4444 lines
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Entry
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- *120360 - MATRIX METALLOPROTEINASE 2; MMP2
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- OMIM
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<div class="container hidden-print">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*120360</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120360">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000087245;t=ENST00000219070" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4313" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=120360" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000087245;t=ENST00000219070" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001127891,NM_001302508,NM_001302509,NM_001302510,NM_004530" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004530" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=120360" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00386&isoform_id=00386_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/MMP2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/116856,180601,180616,180671,11342666,12803499,51831776,88043756,119603230,119603231,119603232,119603233,119603234,189053422,189217853,194376948,210029299,213500123,700274111,700274113,700274115" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P08253" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4313" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000087245;t=ENST00000219070" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MMP2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4313" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MMP2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4313" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4313" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000219070.9&hgg_start=55478830&hgg_end=55506691&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/mmp2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120360[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120360[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000087245" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MMP2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MMP2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MMP2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MMP2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA30877" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7166" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97009" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MMP2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:97009" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4313/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4313" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010524;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010524 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012185;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012185 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012364;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012364 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00194737;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00194737 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-9123" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4313" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MMP2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 716868003<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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120360
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MATRIX METALLOPROTEINASE 2; MMP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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COLLAGENASE TYPE IV-A; CLG4A<br />
|
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COLLAGENASE TYPE IV, 72-KD<br />
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GELATINASE, 72-KD<br />
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GELATINASE A<br />
|
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GELATINASE, NEUTROPHIL
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MMP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MMP2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/442?start=-3&limit=10&highlight=442">16q12.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:55478830-55506691&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:55,478,830-55,506,691</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/442?start=-3&limit=10&highlight=442">
|
|
16q12.2
|
|
</a>
|
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</span>
|
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</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Multicentric osteolysis, nodulosis, and arthropathy
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/259600"> 259600 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/120360" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>Type IV collagenase, 72-kD, is officially designated matrix metalloproteinase-2 (MMP2). It is also known as gelatinase, 72-kD (<a href="#33" class="mim-tip-reference" title="Nagase, H., Barrett, A. J., Woessner, J. F., Jr. <strong>Nomenclature and glossary of the matrix metalloproteinases.</strong> Matrix Suppl. 1: 421-424, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1480083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1480083</a>]" pmid="1480083">Nagase et al., 1992</a>). Type IV collagenase is a metalloproteinase that specifically cleaves type IV collagen, the major structural component of basement membranes (<a href="/entry/120090">120090</a>, <a href="/entry/120130">120130</a>). The metastatic potential of tumor cells has been found to correlate with the activity of this enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1480083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Devarajan, P., Johnston, J. J., Ginsberg, S. S., Van Wart, H. E., Berliner, N. <strong>Structure and expression of neutrophil gelatinase cDNA: identity with type IV collagenase from HT1080 cells.</strong> J. Biol. Chem. 267: 25228-25232, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1460022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1460022</a>]" pmid="1460022">Devarajan et al. (1992)</a> reported the structure and expression of 78-kD gelatinase, which they referred to as neutrophil gelatinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1460022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Huhtala, P., Chow, L. T., Tryggvason, K. <strong>Structure of the human type IV collagenase gene.</strong> J. Biol. Chem. 265: 11077-11082, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2162831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2162831</a>]" pmid="2162831">Huhtala et al. (1990)</a> determined that the CLG4A gene is 17 kb long with 13 exons varying in size from 110 to 901 bp and 12 introns ranging from 175 to 4,350 bp. Alignment of introns showed that introns 1 to 4 and 8 to 12 of the type IV collagenase gene coincide with intron locations in the interstitial collagenase (<a href="/entry/226600">226600</a>) and stromelysin (<a href="/entry/185250">185250</a>) genes, indicating a close structural relationship of these metalloproteinase genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2162831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Kohl, S., Llavona, P., Sauer, A., Reuter, P., Weisschuh, N., Kempf, M., Dehmelt, F. A., Arrenberg, A. B., Sliesoraityte, I., Zrenner, E., van Schooneveld, M. J., Rudolph, G., Kuhlewein, L. Wissinger, B. <strong>A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.</strong> Hum. Molec. Genet. 30: 1218-1229, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33891002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33891002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33891002[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33891002">Kohl et al. (2021)</a> evaluated RNA-seq data from human retinal RNA and observed that MMP2 is expressed in human adult retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33891002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#16" class="mim-tip-reference" title="Irwin, J. C., Kirk, D., Gwatkin, R. B. L., Navre, M., Cannon, P., Giudice, L. C. <strong>Human endometrial matrix metalloproteinase-2, a putative menstrual proteinase: hormonal regulation in cultured stromal cells and messenger RNA expression during the menstrual cycle.</strong> J. Clin. Invest. 97: 438-447, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8567965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8567965</a>] [<a href="https://doi.org/10.1172/JCI118433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8567965">Irwin et al. (1996)</a> presented evidence that MMP2 is a likely effector of endometrial menstrual breakdown. They cultured human endometrial stromal cells in the presence of progesterone and found an augmentation of proteinase production after withdrawal of proteinase: the same results were achieved by the addition of the P receptor antagonist RU486. Characterization of the enzyme by Western blotting revealed it to be MMP2. Northern blot analysis showed differential expression of MMP2 mRNA in late secretory phase endometrium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8567965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bigg, H. F., Shi, Y. E., Liu, Y. E., Steffensen, B., Overall, C. M. <strong>Specific, high affinity binding of tissue inhibitor of metalloproteinases-4 (TIMP-4) to the COOH-terminal hemopexin-like domain of human gelatinase A.</strong> J. Biol. Chem. 272: 15496-15500, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182583</a>] [<a href="https://doi.org/10.1074/jbc.272.24.15496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9182583">Bigg et al. (1997)</a> demonstrated specific, high-affinity binding between progelatinase A and TIMP4 (<a href="/entry/601915">601915</a>). Binding appeared to occur mainly via the C-terminal hemopexin-like domain (C domain) of gelatinase A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Angiogenesis depends on both cell adhesion and proteolytic mechanisms. Matrix metalloproteinase-2 and integrin alpha-V (ITGAV; <a href="/entry/193210">193210</a>)-beta-3 (ITGB3; <a href="/entry/173470">173470</a>) are functionally associated on the surface of angiogenic blood vessels. <a href="#3" class="mim-tip-reference" title="Brooks, P. C., Silletti, S., von Schalscha, T. L., Friedlander, M., Cheresh, D. A. <strong>Disruption of angiogenesis by PEX, a noncatalytic metalloproteinase fragment with integrin binding activity.</strong> Cell 92: 391-400, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9476898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9476898</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80931-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9476898">Brooks et al. (1998)</a> found that a fragment of MMP2, which comprises the C-terminal hemopexin-like domain (amino acids 445-635) and is termed PEX, prevents this enzyme from binding to alpha-V-beta-3 and blocks cell surface collagenolytic activity in melanoma and endothelial cells. PEX blocks MMP2 activity on the chick chorioallantoic membrane where it disrupts angiogenesis and tumor growth. <a href="#3" class="mim-tip-reference" title="Brooks, P. C., Silletti, S., von Schalscha, T. L., Friedlander, M., Cheresh, D. A. <strong>Disruption of angiogenesis by PEX, a noncatalytic metalloproteinase fragment with integrin binding activity.</strong> Cell 92: 391-400, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9476898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9476898</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80931-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9476898">Brooks et al. (1998)</a> also found that a naturally occurring form of PEX can be detected in vivo in conjunction with alpha-V-beta-3 expression in tumors and during developmental retinal neovascularization. Levels of PEX in these vascularized tissues suggest that it interacts with endothelial cell alpha-V-beta-3 where it serves as a natural inhibitor of MMP2 activity, thereby regulating the invasive behavior of new blood vessels. The authors concluded that recombinant PEX may provide a potentially novel therapeutic approach for diseases associated with neovascularization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9476898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Tissue degradation by the matrix metalloproteinase gelatinase A is pivotal to inflammation and metastasis. Recognizing the catalytic importance of substrate-binding exosites outside the catalytic domain, <a href="#29" class="mim-tip-reference" title="McQuibban, G. A., Gong, J.-H., Tam, E. M., McCulloch, C. A. G., Clark-Lewis, I., Overall, C. M. <strong>Inflammation dampened by gelatinase A cleavage of monocyte chemoattractant protein-3.</strong> Science 289: 1202-1206, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947989</a>] [<a href="https://doi.org/10.1126/science.289.5482.1202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10947989">McQuibban et al. (2000)</a> screened for extracellular substrates using the gelatinase A hemopexin domain as bait in the yeast 2-hybrid system. Monocyte chemoattractant protein-3 (MCP3; <a href="/entry/158106">158106</a>) was identified as a physiologic substrate of gelatinase A. Cleaved MCP3 binds to CC-chemokine receptors 1 (<a href="/entry/601159">601159</a>), 2 (<a href="/entry/601267">601267</a>), and 3 (<a href="/entry/601268">601268</a>), but no longer induces calcium fluxes or promotes chemotaxis, and instead acts as a general chemokine antagonist that dampens inflammation. <a href="#29" class="mim-tip-reference" title="McQuibban, G. A., Gong, J.-H., Tam, E. M., McCulloch, C. A. G., Clark-Lewis, I., Overall, C. M. <strong>Inflammation dampened by gelatinase A cleavage of monocyte chemoattractant protein-3.</strong> Science 289: 1202-1206, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947989</a>] [<a href="https://doi.org/10.1126/science.289.5482.1202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10947989">McQuibban et al. (2000)</a> suggested that matrix metalloproteinases are both effectors and regulators of the inflammatory response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10947989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Matsuyama, A., Sakai, N., Ishigami, M., Hiraoka, H., Kashine, S., Hirata, A., Nakamura, T., Yamashita, S., Matsuzawa, Y. <strong>Matrix metalloproteinases as novel disease markers in Takayasu arteritis.</strong> Circulation 108: 1469-1473, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952836</a>] [<a href="https://doi.org/10.1161/01.CIR.0000090689.69973.B1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12952836">Matsuyama et al. (2003)</a> measured circulating levels of MMP2, MMP3 (<a href="/entry/185250">185250</a>), and MMP9 (<a href="/entry/120361">120361</a>) in 25 patients with Takayasu arteritis (<a href="/entry/207600">207600</a>) and 20 age- and sex-matched healthy controls. Levels of all 3 metalloproteinases were higher in patients with active disease than in controls (p less than 0.0001 for each), and MMP2 levels remained elevated even in remission. In contrast, an improvement in clinical signs and symptoms was associated with a marked reduction in circulating MMP3 and MMP9 levels in all patients (p less than 0.05). <a href="#27" class="mim-tip-reference" title="Matsuyama, A., Sakai, N., Ishigami, M., Hiraoka, H., Kashine, S., Hirata, A., Nakamura, T., Yamashita, S., Matsuzawa, Y. <strong>Matrix metalloproteinases as novel disease markers in Takayasu arteritis.</strong> Circulation 108: 1469-1473, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952836</a>] [<a href="https://doi.org/10.1161/01.CIR.0000090689.69973.B1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12952836">Matsuyama et al. (2003)</a> concluded that MMP2 could be helpful in diagnosing Takayasu arteritis and that MMP3 and MMP9 could be used as activity markers for the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12952836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Ueda, M., Yamashita, Y., Takehara, M., Terai, Y., Kumagai, K., Ueki, K., Kanda, K., Yamaguchi, H., Akise, D., Hung, Y.-C., Ueki, M. <strong>Survivin gene expression in endometriosis.</strong> J. Clin. Endocr. Metab. 87: 3452-3459, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107265</a>] [<a href="https://doi.org/10.1210/jcem.87.7.8682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12107265">Ueda et al. (2002)</a> investigated the survivin gene (BIRC5; <a href="/entry/603352">603352</a>) and protein expression in a tumor-like benign disease, endometriosis, and correlated them with apoptosis and invasive phenotype of endometriotic tissues. Gene expression levels of survivin, MMP2, MMP9, and MMP14 (<a href="/entry/600754">600754</a>) in 63 pigmented or nonpigmented endometriotic tissues surgically obtained from 35 women with endometriosis were compared with those in normal eutopic endometrium obtained from 12 women without endometriosis. Survivin, MMP2, MMP9, and MMP14 mRNA expression levels in clinically aggressive pigmented lesions were significantly higher than those in normal eutopic endometrium, and survivin gene expression in pigmented lesions was also higher than that in nonpigmented lesions (P less than 0.05). There was a close correlation between survivin and MMP2, MMP9, and MMP14 gene expression levels in 63 endometriotic tissues examined (P less than 0.01). The authors concluded that upregulation of survivin and MMPs may cooperatively contribute to survival and invasion of endometriosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Cousins, S. W., Marin-Castano, M. E., Espinosa-Heidmann, D. G., Alexandridou, A., Striker, L., Elliot, S. <strong>Female gender, estrogen loss, and sub-RPE deposit formation in aged mice.</strong> Invest. Ophthal. Vis. Sci. 44: 1221-1229, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601052</a>] [<a href="https://doi.org/10.1167/iovs.02-0285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12601052">Cousins et al. (2003)</a> found that female gender in aged mice and estrogen deficiency in middle-aged mice appeared to increase the severity of sub-retinal pigment epithelial (sub-RPE) deposit formation. Loss of RPE MMP2 activity correlated with deposit severity, with estrogen-deficient mice expressing less MMP2 than ovary-intact control mice. However, estrogen supplementation at the dosages used in the study did not appear to protect against formation of sub-RPE deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12601052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Noda, K., Ishida, S., Inoue, M., Obata, K., Oguchi, Y., Okada, Y., Ikeda, E. <strong>Production and activation of matrix metalloproteinase-2 in proliferative diabetic retinopathy.</strong> Invest. Ophthal. Vis. Sci. 44: 2163-2170, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12714657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12714657</a>] [<a href="https://doi.org/10.1167/iovs.02-0662" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12714657">Noda et al. (2003)</a> studied MMPs and their activation in association with the pathogenesis of proliferative diabetic retinopathy (PDR; see <a href="/entry/603933">603933</a>). They demonstrated that pro-MMP2 was efficiently activated in the fibrovascular tissues of PDR, probably through interaction with MT1-MMP (MMP14) and TIMP2. The results suggested that MMP2 and MT1-MMP may be involved in the formation of the fibrovascular tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12714657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="McQuibban, G. A., Butler, G. S., Gong, J.-H., Bendall, L., Power, C., Clark-Lewis, I., Overall, C. M. <strong>Matrix metalloproteinase activity inactivates the CXC chemokine stromal cell-derived factor-1.</strong> J. Biol. Chem. 276: 43503-43508, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571304</a>] [<a href="https://doi.org/10.1074/jbc.M107736200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571304">McQuibban et al. (2001)</a> found that MMP2 cleaves an N-terminal tetrapeptide from the stromal cell-derived factor-1 (SDF1) (CXCL12; <a href="/entry/600835">600835</a>), resulting in a protein designated SDF1(5-67). The authors found that HIV-1-infected macrophages secreted MMP2, which resulted in a dose-dependent increase in in vitro and in vivo neurotoxicity mediated by SDF1(5-67), whereas full-length SDF1 was only minimally neurotoxic (10-fold less toxic). <a href="#41" class="mim-tip-reference" title="Zhang, K., McQuibban, G. A., Silva, C., Butler, G. S., Johnston, J. B., Holden, J., Clark-Lewis, I., Overall, C. M., Power, C. <strong>HIV-induced metalloproteinase processing of the chemokine stromal cell derived factor-1 causes neurodegeneration.</strong> Nature Neurosci. 6: 1064-1071, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502291</a>] [<a href="https://doi.org/10.1038/nn1127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14502291">Zhang et al. (2003)</a> concluded that this was a novel in vivo neurotoxic pathway with a role in HIV type 1 dementia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11571304+14502291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Grote, K., Flach, I., Luchtefeld, M., Akin, E., Holland, S. M., Drexler, H., Schieffer, B. <strong>Mechanical stretch enhances mRNA expression and proenzyme release of matrix metalloproteinase-2 (MMP-2) via NAD(P)H oxidase-derived reactive oxygen species.</strong> Circ. Res. 92: e80-e86, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12750313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12750313</a>] [<a href="https://doi.org/10.1161/01.RES.0000077044.60138.7C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12750313">Grote et al. (2003)</a> investigated whether mechanical stretch, a hallmark of arterial hypertension that leads to vessel wall remodeling and induces reactive oxygen species (ROS) formation via the NAD(P)H oxidase, enhances MMP expression and activity in an NAD(P)H oxidase-dependent manner. Exposure of vascular smooth muscle cells (VSMCs) from wildtype and p47-phox -/- mice to cyclic mechanical stretch resulted in rapid ROS formation and p47-phox membrane translocation followed by an increase in Nox1 transcripts. There was an increase in MMP2 mRNA in wildtype VSMCs, but no ROS formation and no change in MMP2 mRNA in the p47-phox -/- VSMCs. <a href="#11" class="mim-tip-reference" title="Grote, K., Flach, I., Luchtefeld, M., Akin, E., Holland, S. M., Drexler, H., Schieffer, B. <strong>Mechanical stretch enhances mRNA expression and proenzyme release of matrix metalloproteinase-2 (MMP-2) via NAD(P)H oxidase-derived reactive oxygen species.</strong> Circ. Res. 92: e80-e86, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12750313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12750313</a>] [<a href="https://doi.org/10.1161/01.RES.0000077044.60138.7C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12750313">Grote et al. (2003)</a> concluded that these findings supported the notion that in arterial hypertension, reactive oxygen species are involved in vascular remodeling via MMP activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12750313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in vivo selection, transcriptomic analysis, functional verification, and clinical validation, <a href="#30" class="mim-tip-reference" title="Minn, A. J., Gupta, G. P., Siegel, P. M., Bos, P. D., Shu, W., Giri, D. D., Viale, A., Olshen, A. B., Gerald, W. L., Massague, J. <strong>Genes that mediate breast cancer metastasis to lung.</strong> Nature 436: 518-524, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16049480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16049480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16049480[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature03799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16049480">Minn et al. (2005)</a> identified a set of genes that marks and mediates breast cancer metastasis to the lungs. Some of these genes serve dual functions, providing growth advantages both in the primary tumor and in the lung microenvironment. Others contribute to aggressive growth selectivity in the lung. Among the lung metastasis signature genes identified, several, including MMP2, were functionally validated. Those subjects expressing the lung metastasis signature had a significantly poorer lung metastasis-free survival, but not bone metastasis-free survival, compared to subjects without the signature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16049480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Metastasis entails numerous biologic functions that collectively enable cancerous cells from a primary site to disseminate and overtake distant organs. Using genetic and pharmacologic approaches, <a href="#12" class="mim-tip-reference" title="Gupta, G. P., Nguyen, D. X., Chiang, A. C., Bos, P. D., Kim, J. Y., Nadal, C., Gomis, R. R., Manova-Todorova, K., Massague, J. <strong>Mediators of vascular remodelling co-opted for sequential steps in lung metastasis.</strong> Nature 446: 765-770, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17429393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17429393</a>] [<a href="https://doi.org/10.1038/nature05760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17429393">Gupta et al. (2007)</a> showed that the epidermal growth factor receptor ligand epiregulin (<a href="/entry/602061">602061</a>), the cyclooxygenase COX2 (<a href="/entry/600262">600262</a>), and the matrix metalloproteinases MMP1 (<a href="/entry/120353">120353</a>) and MMP2, when expressed in human breast cancer cells, collectively facilitate the assembly of new tumor blood vessels, the release of tumor cells into the circulation, and the breaching of lung capillaries by circulating tumor cells to seed pulmonary metastasis. <a href="#12" class="mim-tip-reference" title="Gupta, G. P., Nguyen, D. X., Chiang, A. C., Bos, P. D., Kim, J. Y., Nadal, C., Gomis, R. R., Manova-Todorova, K., Massague, J. <strong>Mediators of vascular remodelling co-opted for sequential steps in lung metastasis.</strong> Nature 446: 765-770, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17429393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17429393</a>] [<a href="https://doi.org/10.1038/nature05760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17429393">Gupta et al. (2007)</a> concluded that their findings revealed how aggressive primary tumorigenic functions can be mechanistically coupled to greater lung metastatic potential, and how such biologic activities can be therapeutically targeted with specific drug combinations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17429393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Mosig, R. A., Dowling, O., DiFeo, A., Ramirez, M. C. M., Parker, I. C., Abe, E., Diouri, J., Al Aqeel, A., Wylie, J. D., Oblander, S. A., Madri, J., Bianco, P., Apte, S. S., Zaidi, M., Doty, S. B., Majeska, R. J., Schaffler, M. B., Martignetti, J. A. <strong>Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.</strong> Hum. Molec. Genet. 16: 1113-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400654</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400654[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400654">Mosig et al. (2007)</a> generated Mmp2 -/- mice and observed attenuated features of human multicentric osteolysis with arthritis. In addition, despite normal cell numbers in vivo at 8 weeks of life, Mmp2 -/- bone marrow cells were unable to effectively support osteoblast and osteoclast growth and differentiation in culture. Targeted inhibition of MMP2 using siRNA in human SaOS2 and murine MC3T3 osteoblast cell lines resulted in decreased cell proliferation rates. Based on these findings, <a href="#32" class="mim-tip-reference" title="Mosig, R. A., Dowling, O., DiFeo, A., Ramirez, M. C. M., Parker, I. C., Abe, E., Diouri, J., Al Aqeel, A., Wylie, J. D., Oblander, S. A., Madri, J., Bianco, P., Apte, S. S., Zaidi, M., Doty, S. B., Majeska, R. J., Schaffler, M. B., Martignetti, J. A. <strong>Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.</strong> Hum. Molec. Genet. 16: 1113-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400654</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400654[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400654">Mosig et al. (2007)</a> suggested that MMP2 plays a direct role in early skeletal development and bone cell growth and proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17400654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Kenny, H. A., Kaur, S., Coussens, L. M., Lengyel, E. <strong>The initial steps of ovarian cancer cell metastasis are mediated by MMP-2 cleavage of vitronectin and fibronectin.</strong> J. Clin. Invest. 118: 1367-1379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18340378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18340378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18340378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33775" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18340378">Kenny et al. (2008)</a> found that expression of MMP2 was induced upon attachment of ovarian cancer (OvCa) cells to mesothelium. MMP2 enhanced peritoneal adhesion of OvCa cells through cleavage of fibronectin (FN1; <a href="/entry/135600">135600</a>) and vitronectin (VTN; <a href="/entry/193190">193190</a>) into small fragments, and MMP2 increased OvCa binding to FN1 and VTN fragments through their receptors alpha-5 (ITGA5; <a href="/entry/135620">135620</a>)-beta-1 (ITGB1; <a href="/entry/135630">135630</a>) integrin and alpha-V-beta-3 integrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18340378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a knockdown screen in MDA-MB-231 human breast cancer cells, <a href="#18" class="mim-tip-reference" title="Jacob, A., Jing, J., Lee, J., Schedin, P., Gilbert, S. M., Peden, A. A., Junutula, J. R., Prekeris, R. <strong>Rab40b regulates trafficking of MMP2 and MMP9 during invadopodia formation and invasion of breast cancer cells.</strong> J. Cell Sci. 126: 4647-4658, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23902685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23902685</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23902685[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1242/jcs.126573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23902685">Jacob et al. (2013)</a> identified RAB40B (<a href="/entry/619550">619550</a>) as a small monomeric GTPase required for secretion of MMP2 and MMP9. Secretion of MMP2 and MMP9 was not dependent on endocytic transport, but instead relied on transport from the trans-Golgi network through VAMP4 (<a href="/entry/606909">606909</a>)- and RAB40B-containing secretory vesicles. RAB40B knockdown not only decreased MMP2 and MMP9 secretion, but also resulted in mistargeting of MMP2 and MMP9 to lysosomes, where they were degraded. Further analysis demonstrated that RAB40B regulated MMP2 and MMP9 trafficking during invadopodia formation and was required for invadopodia-dependent extracellular matrix degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23902685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#31" class="mim-tip-reference" title="Morgunova, E., Tuuttila, A., Bergmann, U., Isupov, M., Lindqvist, Y., Schneider, G., Tryggvason, K. <strong>Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed.</strong> Science 284: 1667-1670, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10356396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10356396</a>] [<a href="https://doi.org/10.1126/science.284.5420.1667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10356396">Morgunova et al. (1999)</a> reported the crystal structure of the full-length proform of human MMP2. The crystal structure revealed how the propeptide shields the catalytic cleft and that the cysteine switch may operate through cleavage of loops essential for propeptide stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10356396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By hybridization to a panel of DNAs from human-mouse cell hybrids and by in situ hybridization using a gene probe, <a href="#10" class="mim-tip-reference" title="Fan, Y.-S., Eddy, R. L., Huhtala, P., Byers, M. G., Haley, L. L., Henry, W. M., Tryggvason, K., Shows, T. B. <strong>Collagenase type IV (CLG4) is mapped to human chromosome 16q21. (Abstract)</strong> Cytogenet. Cell Genet. 51: 996, 1989."None>Fan et al. (1989)</a> assigned the CLG4 gene to 16q21; see <a href="#15" class="mim-tip-reference" title="Huhtala, P., Eddy, R. L., Fan, Y. S., Byers, M. G., Shows, T. B., Tryggvason, K. <strong>Completion of the primary structure of the human type IV collagenase preproenzyme and assignment of the gene (CLG4) to the q21 region of chromosome 16.</strong> Genomics 6: 554-559, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2158484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2158484</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90486-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2158484">Huhtala et al. (1990)</a>. By hybridization to somatic cell hybrid DNAs, <a href="#6" class="mim-tip-reference" title="Collier, I. E., Bruns, G. A. P., Goldberg, G. I., Gerhard, D. S. <strong>On the structure and chromosome location of the 72- and 92-kDa human type IV collagenase genes.</strong> Genomics 9: 429-434, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1851724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1851724</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90408-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1851724">Collier et al. (1991)</a> assigned both CLG4A and CLG4B (<a href="/entry/120361">120361</a>) to chromosome 16. <a href="#4" class="mim-tip-reference" title="Chen, L. Z., Harris, P. C., Apostolou, S., Baker, E., Holman, K., Lane, S. A., Nancarrow, J. K., Whitmore, S. A., Stallings, R. L., Hildebrand, C. E., Richards, R. I., Sutherland, G. R., Callen, D. F. <strong>A refined physical map of the long arm of human chromosome 16.</strong> Genomics 10: 308-312, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071140</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90313-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2071140">Chen et al. (1991)</a> mapped 12 genes on the long arm of chromosome 16 by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. The breakpoints in the hybrids, in conjunction with the fragile site, divided the long arm into 14 regions. They concluded that CLG4 is in band 16q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2071140+2158484+1851724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Becker-Follmann, J., Gaa, A., Bausch, E., Natt, E., Scherer, G., von Deimling, O. <strong>High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.</strong> Mammalian Genome 8: 172-177, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9069116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9069116</a>] [<a href="https://doi.org/10.1007/s003359900384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9069116">Becker-Follmann et al. (1997)</a> created a high-resolution map of the linkage group on mouse chromosome 8 that is conserved on human 16q. The map extended from the homolog of the MMP2 locus on 16q13 (the most centromeric locus) to CTRB (<a href="/entry/118890">118890</a>) on 16q23.2-q23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9069116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 large multigeneration families segregating autosomal dominant cone dystrophy with early tritanopic color vision defect (<a href="/entry/619649">619649</a>), <a href="#22" class="mim-tip-reference" title="Kohl, S., Llavona, P., Sauer, A., Reuter, P., Weisschuh, N., Kempf, M., Dehmelt, F. A., Arrenberg, A. B., Sliesoraityte, I., Zrenner, E., van Schooneveld, M. J., Rudolph, G., Kuhlewein, L. Wissinger, B. <strong>A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.</strong> Hum. Molec. Genet. 30: 1218-1229, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33891002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33891002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33891002[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33891002">Kohl et al. (2021)</a> identified duplications of variable size at chromosome 16q12. The smallest region of overlap (SRO) was approximately 608 kb, involving the IRXB gene cluster and encompassing the IRX5 (<a href="/entry/606195">606195</a>) and IRX6 (<a href="/entry/606196">606196</a>) genes completely, as well as exons 1 through 11 of the MMP2 gene and some long intergenic noncoding RNAs (lincRNAs) and regulatory elements. The duplications segregated fully with disease in the respective families. Although no microhomologies were evident at the breakpoints of the duplications, the authors noted that chromosome 16 and the SRO and flanking sequences are rich in repetitive elements that might have contributed to the duplication events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33891002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 Saudi Arabian families segregating multicentric osteolysis, nodulosis, and arthropathy (MONA; <a href="/entry/259600">259600</a>), <a href="#25" class="mim-tip-reference" title="Martignetti, J. A., Al Aqeel, A., Al Sewairi, W., Boumah, C. E., Kambouris, M., Al Mayouf, S., Sheth, K. V., Al Eid, W., Dowling, O., Harris, J., Glucksman, M. J., Bahabri, S., Meyer, B. F., Desnick, R. J. <strong>Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.</strong> Nature Genet. 28: 261-265, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431697</a>] [<a href="https://doi.org/10.1038/90100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431697">Martignetti et al. (2001)</a> identified family-specific homoallelic MMP2 mutations (<a href="#0001">120360.0001</a> and <a href="#0002">120360.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Vu, T. H. <strong>Don't mess with the matrix.</strong> Nature Genet. 28: 202-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431682</a>] [<a href="https://doi.org/10.1038/90023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431682">Vu (2001)</a> discussed the mechanism by which loss of MMP activity might lead to the diversity of manifestations seen in the Saudi cases of Torg-Winchester syndrome. Tissue fibrosis appeared to be attributable to impaired function of fibroblasts; arthritis and osteolysis to increased osteoclastic activity; and craniofacial dysmorphism and osteopenia to impaired function of osteoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with MONA who had been diagnosed with Winchester syndrome, <a href="#39" class="mim-tip-reference" title="Zankl, A., Bonafe, L., Calcaterra, V., Di Rocco, M., Superti-Furga, A. <strong>Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.</strong> Clin. Genet. 67: 261-266, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15691365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15691365</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00402.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15691365">Zankl et al. (2005)</a> identified a homozygous mutation in the MMP2 gene (<a href="#0003">120360.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15691365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with Torg syndrome, <a href="#40" class="mim-tip-reference" title="Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A. <strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong> J. Bone Miner. Res. 22: 329-333, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17059372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17059372</a>] [<a href="https://doi.org/10.1359/jbmr.061013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17059372">Zankl et al. (2007)</a> identified compound heterozygosity for mutations in the MMP2 gene (<a href="#0001">120360.0001</a> and <a href="#0005">120360.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17059372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Corry, D. B., Rishi, K., Kanellis, J., Kiss, A., Song, L., Xu, J., Feng, L., Werb, Z., Kheradmand, F. <strong>Decreased allergic lung inflammatory cell egression and increased susceptibility to asphyxiation in MMP2-deficiency.</strong> Nature Immun. 3: 347-353, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11887181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11887181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11887181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11887181">Corry et al. (2002)</a> showed upregulated active and inactive (pro-) MMP2 expression in the bronchoalveolar lavage (BAL) and lungs of control, sensitized allergen-challenged or IL13 (<a href="/entry/147683">147683</a>)-challenged mice. Treatment with an MMP inhibitor or challenge of Mmp2-deficient mice determined that the asthma phenotype is maintained but with fewer inflammatory cells in the BAL, and a concomitant accumulation of these cells, particularly eosinophils, in the lung parenchyma. RNase protection and quantitative RT-PCR analysis indicated that increased lung inflammation is accompanied by excessive amounts of Th2 cytokines, particularly IL13. Repeated challenge of Mmp2 -/-, but not of wildtype, mice resulted in significantly higher mortality due to asphyxiation. Chemotactic activity in BAL rather than chemotaxis of the inflammatory cells was significantly lower in the Mmp2-deficient mice. <a href="#7" class="mim-tip-reference" title="Corry, D. B., Rishi, K., Kanellis, J., Kiss, A., Song, L., Xu, J., Feng, L., Werb, Z., Kheradmand, F. <strong>Decreased allergic lung inflammatory cell egression and increased susceptibility to asphyxiation in MMP2-deficiency.</strong> Nature Immun. 3: 347-353, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11887181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11887181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11887181[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11887181">Corry et al. (2002)</a> concluded that a principal function of MMP2 during allergic lung inflammation is to facilitate the egress of allergic inflammatory cells from the lung parenchyma into the airway and that MMP inhibition would not be a useful therapy for asthma and allergic diseases because of the importance of luminal clearance of these cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11887181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Itoh, T., Tanioka, M., Yoshida, H., Yoshioka, T., Nishimoto, H., Itohara, S. <strong>Reduced angiogenesis and tumor progression in gelatinase A-deficient mice.</strong> Cancer Res. 58: 1048-1051, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500469</a>]" pmid="9500469">Itoh et al. (1998)</a> generated Mmp2-deficient mice. They observed that tumor-induced angiogenesis was suppressed in Mmp2-null mice according to dorsal air sac assay. The authors concluded that host-derived gelatinase A plays an important role in angiogenesis and tumor progression, and proposed the usefulness of gelatinase A inhibitors for anticancer chemotherapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To study the role of Mmp2 in angiogenesis, <a href="#19" class="mim-tip-reference" title="Kato, T., Kure, T., Chang, J.-H., Gabison, E. E., Itoh, T., Itohara, S., Azar, D. T. <strong>Diminished corneal angiogenesis in gelatinase A-deficient mice.</strong> FEBS Lett. 508: 187-190, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11718713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11718713</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02897-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11718713">Kato et al. (2001)</a> analyzed the Mmp2-deficient mice generated by <a href="#17" class="mim-tip-reference" title="Itoh, T., Tanioka, M., Yoshida, H., Yoshioka, T., Nishimoto, H., Itohara, S. <strong>Reduced angiogenesis and tumor progression in gelatinase A-deficient mice.</strong> Cancer Res. 58: 1048-1051, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500469</a>]" pmid="9500469">Itoh et al. (1998)</a>. To determine whether corneal vascularization was altered in Mmp2-deficient mice, they implanted basic fibroblast growth factor (FGF)-containing micropellets into the cornea of mice and observed that Mmp2-deficient mice had decreased corneal neovascularization. The angiogenic response normally induced by basic FGF is markedly reduced in mice lacking functional Mmp2. To determine the role of Mmp2 in vascular endothelial cell migration and tube formation in vitro, the authors prepared aortic rings from Mmp2-deficient mice. They observed that Mmp2-deficient mice showed a significant reduction of endothelial outgrowth compared to wildtype mice after stimulation with basic FGF. <a href="#19" class="mim-tip-reference" title="Kato, T., Kure, T., Chang, J.-H., Gabison, E. E., Itoh, T., Itohara, S., Azar, D. T. <strong>Diminished corneal angiogenesis in gelatinase A-deficient mice.</strong> FEBS Lett. 508: 187-190, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11718713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11718713</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02897-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11718713">Kato et al. (2001)</a> concluded that Mmp2 may play an important role in the regulation of corneal angiogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9500469+11718713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Matsumura, S., Iwanaga, S., Mochizuki, S., Okamoto, H., Ogawa, S., Okada, Y. <strong>Targeted deletion or pharmacological inhibition of MMP-2 prevents cardiac rupture after myocardial infarction in mice.</strong> J. Clin. Invest. 115: 599-609, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15711638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15711638">Matsumura et al. (2005)</a> generated myocardial infarction by ligating the left coronary artery in Mmp2 knockout mice, wildtype mice that had received an MMP2-selective inhibitor (TISAM), and control wildtype mice. The survival rate was significantly higher in Mmp2-null and TISAM-treated mice than in wildtype controls, primarily due to cardiac rupture in the controls, which was not seen in the Mmp2-null or TISAM-treated mice. Control wildtype mice showed activation of the zymogen of Mmp2, strong gelatinolytic activity, and degradation of ECM components in the infarcted myocardium. Although infarcted cardiomyocytes in controls were rapidly removed by macrophages, removal was suppressed in Mmp2-null and TISAM-treated mice. <a href="#26" class="mim-tip-reference" title="Matsumura, S., Iwanaga, S., Mochizuki, S., Okamoto, H., Ogawa, S., Okada, Y. <strong>Targeted deletion or pharmacological inhibition of MMP-2 prevents cardiac rupture after myocardial infarction in mice.</strong> J. Clin. Invest. 115: 599-609, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15711638[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI22304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15711638">Matsumura et al. (2005)</a> suggested that inhibition of MMP2 activity improves the survival rate after acute myocardial infarction by preventing cardiac rupture and delays postinfarction remodeling through a reduction in macrophage infiltration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Lee, J. G., Dahi, S., Mahimkar, R., Tulloch, N. L., Alfonso-Jaume, M. A., Lovett, D. H., Sarkar, R. <strong>Intronic regulation of matrix metalloproteinase-2 revealed by in vivo transcriptional analysis in ischemia.</strong> Proc. Nat. Acad. Sci. 102: 16345-16350, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16258061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16258061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16258061[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508085102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16258061">Lee et al. (2005)</a> found that Mmp2 activity and mRNA were increased after hindlimb ischemia in mice. Targeted deletion of Mmp2 impaired restoration of perfusion and resulted in a high incidence of limb gangrene, indicating that MMP2 is critical in ischemia-induced revascularization. Mutation analysis showed that AP1 (<a href="/entry/165160">165160</a>) transcription factors and p53 (TP53; <a href="/entry/191170">191170</a>), which bound to sites in the Mmp2 promoter, and Nfatc2 (<a href="/entry/600490">600490</a>), which bound to intron 1 of Mmp2, acted in concert to drive ischemia-induced Mmp2 transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16258061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In aneurysmal aortic tissue from Fbn1 (<a href="/entry/134797">134797</a>)-deficient mice, a model of Marfan syndrome (<a href="/entry/154700">154700</a>), <a href="#5" class="mim-tip-reference" title="Chung, A. W. Y., Au Yeung, K., Sandor, G. G. S., Judge, D. P., Dietz, H. C., van Breemen, C. <strong>Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome.</strong> Circ. Res. 101: 512-522, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641224</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.107.157776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17641224">Chung et al. (2007)</a> found upregulation of Mmp2 and Mmp9, accompanied by severe elastic fiber fragmentation and degradation. Contractile force in response to depolarization or receptor stimulation was 50 to 80% lower in the aneurysmal thoracic aorta compared to controls, but the expression of alpha-smooth muscle actin (ACTC1; <a href="/entry/102540">102540</a>) in the aorta of Marfan and wildtype mice was not significantly different. <a href="#5" class="mim-tip-reference" title="Chung, A. W. Y., Au Yeung, K., Sandor, G. G. S., Judge, D. P., Dietz, H. C., van Breemen, C. <strong>Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome.</strong> Circ. Res. 101: 512-522, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641224</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.107.157776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17641224">Chung et al. (2007)</a> concluded that MMP2 and MMP9 are upregulated during thoracic aortic aneurysm formation in Marfan syndrome, and that the resulting elastic fiber degeneration with deterioration of aortic contraction and mechanical properties might explain the pathogenesis of thoracic aortic aneurysm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17641224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Mosig, R. A., Dowling, O., DiFeo, A., Ramirez, M. C. M., Parker, I. C., Abe, E., Diouri, J., Al Aqeel, A., Wylie, J. D., Oblander, S. A., Madri, J., Bianco, P., Apte, S. S., Zaidi, M., Doty, S. B., Majeska, R. J., Schaffler, M. B., Martignetti, J. A. <strong>Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.</strong> Hum. Molec. Genet. 16: 1113-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400654</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400654[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddm060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400654">Mosig et al. (2007)</a> generated Mmp2 -/- mice and observed attenuated features of human multicentric osteolysis with arthritis, including progressive loss of bone mineral density, articular cartilage destruction, and abnormal long bone and craniofacial development. These changes were associated with marked and developmentally restricted decreases in osteoblast and osteoclast numbers in vivo. Mmp2 -/- mice had approximately 50% fewer osteoblasts and osteoclasts than control littermates at 4 days of life, but these differences were nearly resolved by 4 weeks of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17400654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mouse model of chronic neuropathic pain induced by spinal cord ligation, <a href="#20" class="mim-tip-reference" title="Kawasaki, Y., Xu, Z.-Z., Wang, X., Park, J. Y., Zhuang, Z.-Y., Tan, P.-H., Gao, Y.-J., Roy, K., Corfas, G., Lo, E. H., Ji, R.-R. <strong>Distinct roles of matrix metalloproteases in the early- and late-phase development of neuropathic pain.</strong> Nature Med. 14: 331-336, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18264108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18264108</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18264108[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm1723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18264108">Kawasaki et al. (2008)</a> found rapid and transient increased expression of Mmp9 (<a href="/entry/120361">120361</a>) in injured dorsal root ganglion primary sensory neurons. Upregulation of Mmp2 showed a delayed response in dorsal root ganglion satellite cells and spinal astrocytes. Local inhibition of Mmp9 inhibited the early phase of neuropathic pain and inhibition of Mmp2 suppressed the later phase of neuropathic pain. Intrathecal administration of either Mmp9 or Mmp2 produced pain symptoms. Mmp9-null mice did not show early-phase mechanical allodynia, but pain developed on day 10. Further studies indicated that pain was associated with Mmp9 and Mmp2 cleavage of IL1B (<a href="/entry/147720">147720</a>), as well as activation of microglia and astrocytes. The findings indicated a temporal mechanism for neuropathic pain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18264108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120360[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a Saudi family with multicentric osteolysis, nodulosis, and arthropathy (MONA; <a href="/entry/259600">259600</a>), <a href="#25" class="mim-tip-reference" title="Martignetti, J. A., Al Aqeel, A., Al Sewairi, W., Boumah, C. E., Kambouris, M., Al Mayouf, S., Sheth, K. V., Al Eid, W., Dowling, O., Harris, J., Glucksman, M. J., Bahabri, S., Meyer, B. F., Desnick, R. J. <strong>Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.</strong> Nature Genet. 28: 261-265, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431697</a>] [<a href="https://doi.org/10.1038/90100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431697">Martignetti et al. (2001)</a> showed that affected members had a G-to-A transition in codon 101 of exon 2 of the MMP2 gene, which predicted replacement of an arginine by histidine (R101H). The mutation occurred within the prodomain, a region highly conserved across species and other members of the MMP gene family that is involved in autoproteolytic activation of MMP2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a girl diagnosed with Torg syndrome, <a href="#40" class="mim-tip-reference" title="Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A. <strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong> J. Bone Miner. Res. 22: 329-333, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17059372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17059372</a>] [<a href="https://doi.org/10.1359/jbmr.061013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17059372">Zankl et al. (2007)</a> identified compound heterozygosity for mutations in the MMP2 gene: the R101H mutation, and a 1357delC mutation (<a href="#0005">120360.0005</a>) resulting in a frameshift and premature termination in exon 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17059372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018644 OR RCV000726039 OR RCV003147301" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018644, RCV000726039, RCV003147301" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018644...</a>
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<p>In affected members of a Saudi family with multicentric osteolysis, nodulosis, and arthropathy (MONA; <a href="/entry/259600">259600</a>), <a href="#25" class="mim-tip-reference" title="Martignetti, J. A., Al Aqeel, A., Al Sewairi, W., Boumah, C. E., Kambouris, M., Al Mayouf, S., Sheth, K. V., Al Eid, W., Dowling, O., Harris, J., Glucksman, M. J., Bahabri, S., Meyer, B. F., Desnick, R. J. <strong>Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.</strong> Nature Genet. 28: 261-265, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431697</a>] [<a href="https://doi.org/10.1038/90100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431697">Martignetti et al. (2001)</a> identified a tyr244-to-ter (Y244X) mutation of the MMP2 gene. The mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912955 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912955;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121912955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121912955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004576904" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004576904" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004576904</a>
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<p>In an Italian patient with multicentric osteolysis, nodulosis, and arthropathy (MONA; <a href="/entry/259600">259600</a>), who had been diagnosed with Winchester syndrome, <a href="#39" class="mim-tip-reference" title="Zankl, A., Bonafe, L., Calcaterra, V., Di Rocco, M., Superti-Furga, A. <strong>Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.</strong> Clin. Genet. 67: 261-266, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15691365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15691365</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00402.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15691365">Zankl et al. (2005)</a> identified a homozygous 1210G-A transition in exon 8 of the MMP2 gene, resulting in a glu404-to-lys (E404K) substitution in the catalytic domain of the protein. The glutamic acid at codon 404 is believed to be essential for the peptidase activity of all metalloproteinases, as its carboxyl group catalyzes 2 proton transfers, helps stabilize the transition state, and triggers the release of the products (<a href="#13" class="mim-tip-reference" title="Hangauer, D. G., Monzingo, A. F., Matthews, B. W. <strong>An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides.</strong> Biochemistry 23: 5730-5741, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6525336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6525336</a>] [<a href="https://doi.org/10.1021/bi00319a011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6525336">Hangauer et al., 1984</a>; <a href="#31" class="mim-tip-reference" title="Morgunova, E., Tuuttila, A., Bergmann, U., Isupov, M., Lindqvist, Y., Schneider, G., Tryggvason, K. <strong>Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed.</strong> Science 284: 1667-1670, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10356396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10356396</a>] [<a href="https://doi.org/10.1126/science.284.5420.1667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10356396">Morgunova et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10356396+15691365+6525336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2142358692 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2142358692;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2142358692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2142358692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004576905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004576905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004576905</a>
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<p>In 2 sisters with multicentric osteolysis, nodulosis, and arthropathy (MONA; <a href="/entry/259600">259600</a>), originally reported with Winchester syndrome by <a href="#23" class="mim-tip-reference" title="Lambert, J. C., Jaffray, J. Y., Michalski, J. C., Ortonne, J. P., Paquis, V., Saunieres, A. M. <strong>Biochemical and ultrastructural study of two familial cases of Winchester syndrome.</strong> J. Genet. Hum. 37: 231-236, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2625626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2625626</a>]" pmid="2625626">Lambert et al. (1989)</a>, <a href="#35" class="mim-tip-reference" title="Rouzier, C., Vanatka, R., Bannwarth, S., Philip, N., Coussement, A., Paquis-Flucklinger, V., Lambert, J.-C. <strong>A novel homozygous MMP2 mutation in a family with Winchester syndrome.</strong> Clin. Genet. 69: 271-276, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16542393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16542393</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00584.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16542393">Rouzier et al. (2006)</a> identified a homozygous 3-bp deletion (1488delTGG) in exon 8 of the MMP2 gene, resulting in a loss of val400 in a highly conserved region in the third alpha-helix of the catalytic domain of the protein. The sisters were born of consanguineous parents of Algerian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16542393+2625626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1567378779 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1567378779;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1567378779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1567378779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004576906" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004576906" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004576906</a>
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<p>For discussion of the 1-bp deletion (1357delC) in the MMP2 gene that was found in compound heterozygous state in a patient with Torg syndrome (MONA; <a href="/entry/259600">259600</a>) by <a href="#40" class="mim-tip-reference" title="Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A. <strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong> J. Bone Miner. Res. 22: 329-333, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17059372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17059372</a>] [<a href="https://doi.org/10.1359/jbmr.061013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17059372">Zankl et al. (2007)</a>, see <a href="#0001">120360.0001</a>. (In the article by <a href="#40" class="mim-tip-reference" title="Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A. <strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong> J. Bone Miner. Res. 22: 329-333, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17059372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17059372</a>] [<a href="https://doi.org/10.1359/jbmr.061013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17059372">Zankl et al. (2007)</a>, the nucleotide change in this mutation was cited as both 1357delC and 1957delC; <a href="#36" class="mim-tip-reference" title="Superti-Furga, A. <strong>Personal Communication.</strong> Freiburg, Germany 1/26/2009."None>Superti-Furga (2009)</a> confirmed that 1357delC is correct.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17059372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Becker-Follmann1997" class="mim-anchor"></a>
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Becker-Follmann, J., Gaa, A., Bausch, E., Natt, E., Scherer, G., von Deimling, O.
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<strong>High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.</strong>
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Mammalian Genome 8: 172-177, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9069116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9069116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9069116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900384" target="_blank">Full Text</a>]
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Bigg, H. F., Shi, Y. E., Liu, Y. E., Steffensen, B., Overall, C. M.
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<strong>Specific, high affinity binding of tissue inhibitor of metalloproteinases-4 (TIMP-4) to the COOH-terminal hemopexin-like domain of human gelatinase A.</strong>
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J. Biol. Chem. 272: 15496-15500, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.272.24.15496" target="_blank">Full Text</a>]
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Brooks, P. C., Silletti, S., von Schalscha, T. L., Friedlander, M., Cheresh, D. A.
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<strong>Disruption of angiogenesis by PEX, a noncatalytic metalloproteinase fragment with integrin binding activity.</strong>
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Cell 92: 391-400, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9476898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9476898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9476898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)80931-9" target="_blank">Full Text</a>]
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Chen, L. Z., Harris, P. C., Apostolou, S., Baker, E., Holman, K., Lane, S. A., Nancarrow, J. K., Whitmore, S. A., Stallings, R. L., Hildebrand, C. E., Richards, R. I., Sutherland, G. R., Callen, D. F.
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<strong>A refined physical map of the long arm of human chromosome 16.</strong>
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Genomics 10: 308-312, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2071140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90313-4" target="_blank">Full Text</a>]
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Chung, A. W. Y., Au Yeung, K., Sandor, G. G. S., Judge, D. P., Dietz, H. C., van Breemen, C.
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<strong>Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome.</strong>
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Circ. Res. 101: 512-522, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17641224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCRESAHA.107.157776" target="_blank">Full Text</a>]
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Collier, I. E., Bruns, G. A. P., Goldberg, G. I., Gerhard, D. S.
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<strong>On the structure and chromosome location of the 72- and 92-kDa human type IV collagenase genes.</strong>
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Genomics 9: 429-434, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1851724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1851724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1851724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A.
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<strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong>
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J. Bone Miner. Res. 22: 329-333, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17059372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17059372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17059372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1359/jbmr.061013" target="_blank">Full Text</a>]
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<a id="41" class="mim-anchor"></a>
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<a id="Zhang2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, K., McQuibban, G. A., Silva, C., Butler, G. S., Johnston, J. B., Holden, J., Clark-Lewis, I., Overall, C. M., Power, C.
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<strong>HIV-induced metalloproteinase processing of the chemokine stromal cell derived factor-1 causes neurodegeneration.</strong>
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Nature Neurosci. 6: 1064-1071, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14502291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nn1127" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/06/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Bao Lige - updated : 09/30/2021<br>Ada Hamosh - updated : 9/25/2013<br>Marla J. F. O'Neill - updated : 1/20/2011<br>Marla J. F. O'Neill - updated : 5/10/2010<br>Kelly A. Przylepa - updated : 1/27/2009<br>Patricia A. Hartz - updated : 7/22/2008<br>Cassandra L. Kniffin - updated : 4/28/2008<br>Ada Hamosh - updated : 6/4/2007<br>Cassandra L. Kniffin - updated : 4/27/2006<br>Patricia A. Hartz - updated : 3/24/2006<br>Ada Hamosh - updated : 8/15/2005<br>Cassandra L. Kniffin - updated : 4/14/2005<br>Marla J. F. O'Neill - updated : 4/11/2005<br>Marla J. F. O'Neill - updated : 9/8/2004<br>Marla J. F. O'Neill - updated : 2/18/2004<br>Cassandra L. Kniffin - updated : 10/3/2003<br>Jane Kelly - updated : 8/25/2003<br>Jane Kelly - updated : 3/26/2003<br>John A. Phillips, III - updated : 12/6/2002<br>Dawn Watkins-Chow - updated : 6/14/2002<br>Paul J. Converse - updated : 3/12/2002<br>Victor A. McKusick - updated : 6/25/2001<br>Ada Hamosh - updated : 8/17/2000<br>Patti M. Sherman - updated : 7/27/2000<br>Ada Hamosh - updated : 6/3/1999<br>Stylianos E. Antonarakis - updated : 4/1/1998<br>Victor A. McKusick - updated : 4/15/1997
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1989
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 01/31/2024
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<span class="mim-text-font">
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alopez : 06/13/2022<br>carol : 12/06/2021<br>carol : 10/01/2021<br>mgross : 09/30/2021<br>carol : 04/24/2020<br>carol : 01/09/2020<br>carol : 02/09/2015<br>mcolton : 2/5/2015<br>carol : 9/25/2013<br>wwang : 2/2/2011<br>terry : 1/20/2011<br>terry : 5/27/2010<br>wwang : 5/13/2010<br>terry : 5/10/2010<br>carol : 2/13/2009<br>carol : 2/12/2009<br>carol : 1/27/2009<br>wwang : 7/23/2008<br>terry : 7/22/2008<br>wwang : 5/16/2008<br>ckniffin : 4/28/2008<br>alopez : 6/19/2007<br>terry : 6/4/2007<br>wwang : 5/3/2006<br>ckniffin : 4/27/2006<br>mgross : 3/28/2006<br>terry : 3/24/2006<br>alopez : 8/18/2005<br>terry : 8/15/2005<br>alopez : 7/5/2005<br>tkritzer : 4/20/2005<br>ckniffin : 4/14/2005<br>tkritzer : 4/11/2005<br>terry : 4/11/2005<br>carol : 9/8/2004<br>carol : 2/18/2004<br>terry : 11/10/2003<br>alopez : 10/16/2003<br>carol : 10/3/2003<br>ckniffin : 10/3/2003<br>mgross : 8/25/2003<br>cwells : 3/26/2003<br>alopez : 12/6/2002<br>cwells : 6/14/2002<br>cwells : 6/14/2002<br>alopez : 4/12/2002<br>alopez : 3/12/2002<br>alopez : 3/12/2002<br>alopez : 6/28/2001<br>terry : 6/26/2001<br>terry : 6/25/2001<br>alopez : 8/17/2000<br>mcapotos : 8/2/2000<br>psherman : 7/27/2000<br>alopez : 6/3/1999<br>terry : 6/3/1999<br>carol : 6/2/1998<br>carol : 4/1/1998<br>jenny : 4/15/1997<br>terry : 4/10/1997<br>mark : 3/22/1996<br>terry : 3/19/1996<br>carol : 1/23/1995<br>supermim : 3/16/1992<br>carol : 5/21/1991<br>carol : 3/6/1991<br>carol : 9/8/1990<br>carol : 9/7/1990
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<strong>*</strong> 120360
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<h3>
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MATRIX METALLOPROTEINASE 2; MMP2
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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COLLAGENASE TYPE IV-A; CLG4A<br />
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COLLAGENASE TYPE IV, 72-KD<br />
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GELATINASE, 72-KD<br />
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GELATINASE A<br />
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GELATINASE, NEUTROPHIL
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<strong><em>HGNC Approved Gene Symbol: MMP2</em></strong>
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<strong>SNOMEDCT:</strong> 716868003;
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<strong>
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Cytogenetic location: 16q12.2
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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16q12.2
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Multicentric osteolysis, nodulosis, and arthropathy
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<span class="mim-font">
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259600
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Type IV collagenase, 72-kD, is officially designated matrix metalloproteinase-2 (MMP2). It is also known as gelatinase, 72-kD (Nagase et al., 1992). Type IV collagenase is a metalloproteinase that specifically cleaves type IV collagen, the major structural component of basement membranes (120090, 120130). The metastatic potential of tumor cells has been found to correlate with the activity of this enzyme. </p>
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<strong>Cloning and Expression</strong>
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<p>Devarajan et al. (1992) reported the structure and expression of 78-kD gelatinase, which they referred to as neutrophil gelatinase. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Huhtala et al. (1990) determined that the CLG4A gene is 17 kb long with 13 exons varying in size from 110 to 901 bp and 12 introns ranging from 175 to 4,350 bp. Alignment of introns showed that introns 1 to 4 and 8 to 12 of the type IV collagenase gene coincide with intron locations in the interstitial collagenase (226600) and stromelysin (185250) genes, indicating a close structural relationship of these metalloproteinase genes. </p><p>Kohl et al. (2021) evaluated RNA-seq data from human retinal RNA and observed that MMP2 is expressed in human adult retina. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Irwin et al. (1996) presented evidence that MMP2 is a likely effector of endometrial menstrual breakdown. They cultured human endometrial stromal cells in the presence of progesterone and found an augmentation of proteinase production after withdrawal of proteinase: the same results were achieved by the addition of the P receptor antagonist RU486. Characterization of the enzyme by Western blotting revealed it to be MMP2. Northern blot analysis showed differential expression of MMP2 mRNA in late secretory phase endometrium. </p><p>Bigg et al. (1997) demonstrated specific, high-affinity binding between progelatinase A and TIMP4 (601915). Binding appeared to occur mainly via the C-terminal hemopexin-like domain (C domain) of gelatinase A. </p><p>Angiogenesis depends on both cell adhesion and proteolytic mechanisms. Matrix metalloproteinase-2 and integrin alpha-V (ITGAV; 193210)-beta-3 (ITGB3; 173470) are functionally associated on the surface of angiogenic blood vessels. Brooks et al. (1998) found that a fragment of MMP2, which comprises the C-terminal hemopexin-like domain (amino acids 445-635) and is termed PEX, prevents this enzyme from binding to alpha-V-beta-3 and blocks cell surface collagenolytic activity in melanoma and endothelial cells. PEX blocks MMP2 activity on the chick chorioallantoic membrane where it disrupts angiogenesis and tumor growth. Brooks et al. (1998) also found that a naturally occurring form of PEX can be detected in vivo in conjunction with alpha-V-beta-3 expression in tumors and during developmental retinal neovascularization. Levels of PEX in these vascularized tissues suggest that it interacts with endothelial cell alpha-V-beta-3 where it serves as a natural inhibitor of MMP2 activity, thereby regulating the invasive behavior of new blood vessels. The authors concluded that recombinant PEX may provide a potentially novel therapeutic approach for diseases associated with neovascularization. </p><p>Tissue degradation by the matrix metalloproteinase gelatinase A is pivotal to inflammation and metastasis. Recognizing the catalytic importance of substrate-binding exosites outside the catalytic domain, McQuibban et al. (2000) screened for extracellular substrates using the gelatinase A hemopexin domain as bait in the yeast 2-hybrid system. Monocyte chemoattractant protein-3 (MCP3; 158106) was identified as a physiologic substrate of gelatinase A. Cleaved MCP3 binds to CC-chemokine receptors 1 (601159), 2 (601267), and 3 (601268), but no longer induces calcium fluxes or promotes chemotaxis, and instead acts as a general chemokine antagonist that dampens inflammation. McQuibban et al. (2000) suggested that matrix metalloproteinases are both effectors and regulators of the inflammatory response. </p><p>Matsuyama et al. (2003) measured circulating levels of MMP2, MMP3 (185250), and MMP9 (120361) in 25 patients with Takayasu arteritis (207600) and 20 age- and sex-matched healthy controls. Levels of all 3 metalloproteinases were higher in patients with active disease than in controls (p less than 0.0001 for each), and MMP2 levels remained elevated even in remission. In contrast, an improvement in clinical signs and symptoms was associated with a marked reduction in circulating MMP3 and MMP9 levels in all patients (p less than 0.05). Matsuyama et al. (2003) concluded that MMP2 could be helpful in diagnosing Takayasu arteritis and that MMP3 and MMP9 could be used as activity markers for the disease. </p><p>Ueda et al. (2002) investigated the survivin gene (BIRC5; 603352) and protein expression in a tumor-like benign disease, endometriosis, and correlated them with apoptosis and invasive phenotype of endometriotic tissues. Gene expression levels of survivin, MMP2, MMP9, and MMP14 (600754) in 63 pigmented or nonpigmented endometriotic tissues surgically obtained from 35 women with endometriosis were compared with those in normal eutopic endometrium obtained from 12 women without endometriosis. Survivin, MMP2, MMP9, and MMP14 mRNA expression levels in clinically aggressive pigmented lesions were significantly higher than those in normal eutopic endometrium, and survivin gene expression in pigmented lesions was also higher than that in nonpigmented lesions (P less than 0.05). There was a close correlation between survivin and MMP2, MMP9, and MMP14 gene expression levels in 63 endometriotic tissues examined (P less than 0.01). The authors concluded that upregulation of survivin and MMPs may cooperatively contribute to survival and invasion of endometriosis. </p><p>Cousins et al. (2003) found that female gender in aged mice and estrogen deficiency in middle-aged mice appeared to increase the severity of sub-retinal pigment epithelial (sub-RPE) deposit formation. Loss of RPE MMP2 activity correlated with deposit severity, with estrogen-deficient mice expressing less MMP2 than ovary-intact control mice. However, estrogen supplementation at the dosages used in the study did not appear to protect against formation of sub-RPE deposits. </p><p>Noda et al. (2003) studied MMPs and their activation in association with the pathogenesis of proliferative diabetic retinopathy (PDR; see 603933). They demonstrated that pro-MMP2 was efficiently activated in the fibrovascular tissues of PDR, probably through interaction with MT1-MMP (MMP14) and TIMP2. The results suggested that MMP2 and MT1-MMP may be involved in the formation of the fibrovascular tissues. </p><p>McQuibban et al. (2001) found that MMP2 cleaves an N-terminal tetrapeptide from the stromal cell-derived factor-1 (SDF1) (CXCL12; 600835), resulting in a protein designated SDF1(5-67). The authors found that HIV-1-infected macrophages secreted MMP2, which resulted in a dose-dependent increase in in vitro and in vivo neurotoxicity mediated by SDF1(5-67), whereas full-length SDF1 was only minimally neurotoxic (10-fold less toxic). Zhang et al. (2003) concluded that this was a novel in vivo neurotoxic pathway with a role in HIV type 1 dementia. </p><p>Grote et al. (2003) investigated whether mechanical stretch, a hallmark of arterial hypertension that leads to vessel wall remodeling and induces reactive oxygen species (ROS) formation via the NAD(P)H oxidase, enhances MMP expression and activity in an NAD(P)H oxidase-dependent manner. Exposure of vascular smooth muscle cells (VSMCs) from wildtype and p47-phox -/- mice to cyclic mechanical stretch resulted in rapid ROS formation and p47-phox membrane translocation followed by an increase in Nox1 transcripts. There was an increase in MMP2 mRNA in wildtype VSMCs, but no ROS formation and no change in MMP2 mRNA in the p47-phox -/- VSMCs. Grote et al. (2003) concluded that these findings supported the notion that in arterial hypertension, reactive oxygen species are involved in vascular remodeling via MMP activation. </p><p>By in vivo selection, transcriptomic analysis, functional verification, and clinical validation, Minn et al. (2005) identified a set of genes that marks and mediates breast cancer metastasis to the lungs. Some of these genes serve dual functions, providing growth advantages both in the primary tumor and in the lung microenvironment. Others contribute to aggressive growth selectivity in the lung. Among the lung metastasis signature genes identified, several, including MMP2, were functionally validated. Those subjects expressing the lung metastasis signature had a significantly poorer lung metastasis-free survival, but not bone metastasis-free survival, compared to subjects without the signature. </p><p>Metastasis entails numerous biologic functions that collectively enable cancerous cells from a primary site to disseminate and overtake distant organs. Using genetic and pharmacologic approaches, Gupta et al. (2007) showed that the epidermal growth factor receptor ligand epiregulin (602061), the cyclooxygenase COX2 (600262), and the matrix metalloproteinases MMP1 (120353) and MMP2, when expressed in human breast cancer cells, collectively facilitate the assembly of new tumor blood vessels, the release of tumor cells into the circulation, and the breaching of lung capillaries by circulating tumor cells to seed pulmonary metastasis. Gupta et al. (2007) concluded that their findings revealed how aggressive primary tumorigenic functions can be mechanistically coupled to greater lung metastatic potential, and how such biologic activities can be therapeutically targeted with specific drug combinations. </p><p>Mosig et al. (2007) generated Mmp2 -/- mice and observed attenuated features of human multicentric osteolysis with arthritis. In addition, despite normal cell numbers in vivo at 8 weeks of life, Mmp2 -/- bone marrow cells were unable to effectively support osteoblast and osteoclast growth and differentiation in culture. Targeted inhibition of MMP2 using siRNA in human SaOS2 and murine MC3T3 osteoblast cell lines resulted in decreased cell proliferation rates. Based on these findings, Mosig et al. (2007) suggested that MMP2 plays a direct role in early skeletal development and bone cell growth and proliferation. </p><p>Kenny et al. (2008) found that expression of MMP2 was induced upon attachment of ovarian cancer (OvCa) cells to mesothelium. MMP2 enhanced peritoneal adhesion of OvCa cells through cleavage of fibronectin (FN1; 135600) and vitronectin (VTN; 193190) into small fragments, and MMP2 increased OvCa binding to FN1 and VTN fragments through their receptors alpha-5 (ITGA5; 135620)-beta-1 (ITGB1; 135630) integrin and alpha-V-beta-3 integrin. </p><p>Using a knockdown screen in MDA-MB-231 human breast cancer cells, Jacob et al. (2013) identified RAB40B (619550) as a small monomeric GTPase required for secretion of MMP2 and MMP9. Secretion of MMP2 and MMP9 was not dependent on endocytic transport, but instead relied on transport from the trans-Golgi network through VAMP4 (606909)- and RAB40B-containing secretory vesicles. RAB40B knockdown not only decreased MMP2 and MMP9 secretion, but also resulted in mistargeting of MMP2 and MMP9 to lysosomes, where they were degraded. Further analysis demonstrated that RAB40B regulated MMP2 and MMP9 trafficking during invadopodia formation and was required for invadopodia-dependent extracellular matrix degradation. </p>
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<strong>Biochemical Features</strong>
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Morgunova et al. (1999) reported the crystal structure of the full-length proform of human MMP2. The crystal structure revealed how the propeptide shields the catalytic cleft and that the cysteine switch may operate through cleavage of loops essential for propeptide stability. </p>
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<strong>Mapping</strong>
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<p>By hybridization to a panel of DNAs from human-mouse cell hybrids and by in situ hybridization using a gene probe, Fan et al. (1989) assigned the CLG4 gene to 16q21; see Huhtala et al. (1990). By hybridization to somatic cell hybrid DNAs, Collier et al. (1991) assigned both CLG4A and CLG4B (120361) to chromosome 16. Chen et al. (1991) mapped 12 genes on the long arm of chromosome 16 by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. The breakpoints in the hybrids, in conjunction with the fragile site, divided the long arm into 14 regions. They concluded that CLG4 is in band 16q13. </p><p>Becker-Follmann et al. (1997) created a high-resolution map of the linkage group on mouse chromosome 8 that is conserved on human 16q. The map extended from the homolog of the MMP2 locus on 16q13 (the most centromeric locus) to CTRB (118890) on 16q23.2-q23.3. </p>
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<strong>Cytogenetics</strong>
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<p>In 4 large multigeneration families segregating autosomal dominant cone dystrophy with early tritanopic color vision defect (619649), Kohl et al. (2021) identified duplications of variable size at chromosome 16q12. The smallest region of overlap (SRO) was approximately 608 kb, involving the IRXB gene cluster and encompassing the IRX5 (606195) and IRX6 (606196) genes completely, as well as exons 1 through 11 of the MMP2 gene and some long intergenic noncoding RNAs (lincRNAs) and regulatory elements. The duplications segregated fully with disease in the respective families. Although no microhomologies were evident at the breakpoints of the duplications, the authors noted that chromosome 16 and the SRO and flanking sequences are rich in repetitive elements that might have contributed to the duplication events. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 2 Saudi Arabian families segregating multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), Martignetti et al. (2001) identified family-specific homoallelic MMP2 mutations (120360.0001 and 120360.0002). </p><p>Vu (2001) discussed the mechanism by which loss of MMP activity might lead to the diversity of manifestations seen in the Saudi cases of Torg-Winchester syndrome. Tissue fibrosis appeared to be attributable to impaired function of fibroblasts; arthritis and osteolysis to increased osteoclastic activity; and craniofacial dysmorphism and osteopenia to impaired function of osteoblasts. </p><p>In a patient with MONA who had been diagnosed with Winchester syndrome, Zankl et al. (2005) identified a homozygous mutation in the MMP2 gene (120360.0003). </p><p>In a patient with Torg syndrome, Zankl et al. (2007) identified compound heterozygosity for mutations in the MMP2 gene (120360.0001 and 120360.0005). </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<p>Corry et al. (2002) showed upregulated active and inactive (pro-) MMP2 expression in the bronchoalveolar lavage (BAL) and lungs of control, sensitized allergen-challenged or IL13 (147683)-challenged mice. Treatment with an MMP inhibitor or challenge of Mmp2-deficient mice determined that the asthma phenotype is maintained but with fewer inflammatory cells in the BAL, and a concomitant accumulation of these cells, particularly eosinophils, in the lung parenchyma. RNase protection and quantitative RT-PCR analysis indicated that increased lung inflammation is accompanied by excessive amounts of Th2 cytokines, particularly IL13. Repeated challenge of Mmp2 -/-, but not of wildtype, mice resulted in significantly higher mortality due to asphyxiation. Chemotactic activity in BAL rather than chemotaxis of the inflammatory cells was significantly lower in the Mmp2-deficient mice. Corry et al. (2002) concluded that a principal function of MMP2 during allergic lung inflammation is to facilitate the egress of allergic inflammatory cells from the lung parenchyma into the airway and that MMP inhibition would not be a useful therapy for asthma and allergic diseases because of the importance of luminal clearance of these cells. </p><p>Itoh et al. (1998) generated Mmp2-deficient mice. They observed that tumor-induced angiogenesis was suppressed in Mmp2-null mice according to dorsal air sac assay. The authors concluded that host-derived gelatinase A plays an important role in angiogenesis and tumor progression, and proposed the usefulness of gelatinase A inhibitors for anticancer chemotherapy. </p><p>To study the role of Mmp2 in angiogenesis, Kato et al. (2001) analyzed the Mmp2-deficient mice generated by Itoh et al. (1998). To determine whether corneal vascularization was altered in Mmp2-deficient mice, they implanted basic fibroblast growth factor (FGF)-containing micropellets into the cornea of mice and observed that Mmp2-deficient mice had decreased corneal neovascularization. The angiogenic response normally induced by basic FGF is markedly reduced in mice lacking functional Mmp2. To determine the role of Mmp2 in vascular endothelial cell migration and tube formation in vitro, the authors prepared aortic rings from Mmp2-deficient mice. They observed that Mmp2-deficient mice showed a significant reduction of endothelial outgrowth compared to wildtype mice after stimulation with basic FGF. Kato et al. (2001) concluded that Mmp2 may play an important role in the regulation of corneal angiogenesis. </p><p>Matsumura et al. (2005) generated myocardial infarction by ligating the left coronary artery in Mmp2 knockout mice, wildtype mice that had received an MMP2-selective inhibitor (TISAM), and control wildtype mice. The survival rate was significantly higher in Mmp2-null and TISAM-treated mice than in wildtype controls, primarily due to cardiac rupture in the controls, which was not seen in the Mmp2-null or TISAM-treated mice. Control wildtype mice showed activation of the zymogen of Mmp2, strong gelatinolytic activity, and degradation of ECM components in the infarcted myocardium. Although infarcted cardiomyocytes in controls were rapidly removed by macrophages, removal was suppressed in Mmp2-null and TISAM-treated mice. Matsumura et al. (2005) suggested that inhibition of MMP2 activity improves the survival rate after acute myocardial infarction by preventing cardiac rupture and delays postinfarction remodeling through a reduction in macrophage infiltration. </p><p>Lee et al. (2005) found that Mmp2 activity and mRNA were increased after hindlimb ischemia in mice. Targeted deletion of Mmp2 impaired restoration of perfusion and resulted in a high incidence of limb gangrene, indicating that MMP2 is critical in ischemia-induced revascularization. Mutation analysis showed that AP1 (165160) transcription factors and p53 (TP53; 191170), which bound to sites in the Mmp2 promoter, and Nfatc2 (600490), which bound to intron 1 of Mmp2, acted in concert to drive ischemia-induced Mmp2 transcription. </p><p>In aneurysmal aortic tissue from Fbn1 (134797)-deficient mice, a model of Marfan syndrome (154700), Chung et al. (2007) found upregulation of Mmp2 and Mmp9, accompanied by severe elastic fiber fragmentation and degradation. Contractile force in response to depolarization or receptor stimulation was 50 to 80% lower in the aneurysmal thoracic aorta compared to controls, but the expression of alpha-smooth muscle actin (ACTC1; 102540) in the aorta of Marfan and wildtype mice was not significantly different. Chung et al. (2007) concluded that MMP2 and MMP9 are upregulated during thoracic aortic aneurysm formation in Marfan syndrome, and that the resulting elastic fiber degeneration with deterioration of aortic contraction and mechanical properties might explain the pathogenesis of thoracic aortic aneurysm. </p><p>Mosig et al. (2007) generated Mmp2 -/- mice and observed attenuated features of human multicentric osteolysis with arthritis, including progressive loss of bone mineral density, articular cartilage destruction, and abnormal long bone and craniofacial development. These changes were associated with marked and developmentally restricted decreases in osteoblast and osteoclast numbers in vivo. Mmp2 -/- mice had approximately 50% fewer osteoblasts and osteoclasts than control littermates at 4 days of life, but these differences were nearly resolved by 4 weeks of age. </p><p>In a mouse model of chronic neuropathic pain induced by spinal cord ligation, Kawasaki et al. (2008) found rapid and transient increased expression of Mmp9 (120361) in injured dorsal root ganglion primary sensory neurons. Upregulation of Mmp2 showed a delayed response in dorsal root ganglion satellite cells and spinal astrocytes. Local inhibition of Mmp9 inhibited the early phase of neuropathic pain and inhibition of Mmp2 suppressed the later phase of neuropathic pain. Intrathecal administration of either Mmp9 or Mmp2 produced pain symptoms. Mmp9-null mice did not show early-phase mechanical allodynia, but pain developed on day 10. Further studies indicated that pain was associated with Mmp9 and Mmp2 cleavage of IL1B (147720), as well as activation of microglia and astrocytes. The findings indicated a temporal mechanism for neuropathic pain. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MMP2, ARG101HIS
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<br />
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SNP: rs121912953,
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gnomAD: rs121912953,
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ClinVar: RCV004576903
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Saudi family with multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), Martignetti et al. (2001) showed that affected members had a G-to-A transition in codon 101 of exon 2 of the MMP2 gene, which predicted replacement of an arginine by histidine (R101H). The mutation occurred within the prodomain, a region highly conserved across species and other members of the MMP gene family that is involved in autoproteolytic activation of MMP2. </p><p>In a girl diagnosed with Torg syndrome, Zankl et al. (2007) identified compound heterozygosity for mutations in the MMP2 gene: the R101H mutation, and a 1357delC mutation (120360.0005) resulting in a frameshift and premature termination in exon 8. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MMP2, TYR244TER
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<br />
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SNP: rs121912954,
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ClinVar: RCV000018644, RCV000726039, RCV003147301
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a Saudi family with multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), Martignetti et al. (2001) identified a tyr244-to-ter (Y244X) mutation of the MMP2 gene. The mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MMP2, GLU404LYS
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<br />
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SNP: rs121912955,
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ClinVar: RCV004576904
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Italian patient with multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), who had been diagnosed with Winchester syndrome, Zankl et al. (2005) identified a homozygous 1210G-A transition in exon 8 of the MMP2 gene, resulting in a glu404-to-lys (E404K) substitution in the catalytic domain of the protein. The glutamic acid at codon 404 is believed to be essential for the peptidase activity of all metalloproteinases, as its carboxyl group catalyzes 2 proton transfers, helps stabilize the transition state, and triggers the release of the products (Hangauer et al., 1984; Morgunova et al., 1999). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MMP2, 3-BP DEL, 1488TGG
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<br />
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SNP: rs2142358692,
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ClinVar: RCV004576905
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters with multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), originally reported with Winchester syndrome by Lambert et al. (1989), Rouzier et al. (2006) identified a homozygous 3-bp deletion (1488delTGG) in exon 8 of the MMP2 gene, resulting in a loss of val400 in a highly conserved region in the third alpha-helix of the catalytic domain of the protein. The sisters were born of consanguineous parents of Algerian origin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MMP2, 1-BP DEL, 1357C
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<br />
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SNP: rs1567378779,
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ClinVar: RCV004576906
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (1357delC) in the MMP2 gene that was found in compound heterozygous state in a patient with Torg syndrome (MONA; 259600) by Zankl et al. (2007), see 120360.0001. (In the article by Zankl et al. (2007), the nucleotide change in this mutation was cited as both 1357delC and 1957delC; Superti-Furga (2009) confirmed that 1357delC is correct.) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Rouzier, C., Vanatka, R., Bannwarth, S., Philip, N., Coussement, A., Paquis-Flucklinger, V., Lambert, J.-C.
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<strong>Personal Communication.</strong>
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Ueda, M., Yamashita, Y., Takehara, M., Terai, Y., Kumagai, K., Ueki, K., Kanda, K., Yamaguchi, H., Akise, D., Hung, Y.-C., Ueki, M.
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<strong>Survivin gene expression in endometriosis.</strong>
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<p class="mim-text-font">
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Vu, T. H.
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<strong>Don't mess with the matrix.</strong>
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Nature Genet. 28: 202-204, 2001.
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[PubMed: 11431682]
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<p class="mim-text-font">
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Zankl, A., Bonafe, L., Calcaterra, V., Di Rocco, M., Superti-Furga, A.
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<strong>Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.</strong>
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Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D. A., Superti-Furga, A.
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<strong>Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.</strong>
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Zhang, K., McQuibban, G. A., Silva, C., Butler, G. S., Johnston, J. B., Holden, J., Clark-Lewis, I., Overall, C. M., Power, C.
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<strong>HIV-induced metalloproteinase processing of the chemokine stromal cell derived factor-1 causes neurodegeneration.</strong>
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Contributors:
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Marla J. F. O'Neill - updated : 12/06/2021<br>Bao Lige - updated : 09/30/2021<br>Ada Hamosh - updated : 9/25/2013<br>Marla J. F. O'Neill - updated : 1/20/2011<br>Marla J. F. O'Neill - updated : 5/10/2010<br>Kelly A. Przylepa - updated : 1/27/2009<br>Patricia A. Hartz - updated : 7/22/2008<br>Cassandra L. Kniffin - updated : 4/28/2008<br>Ada Hamosh - updated : 6/4/2007<br>Cassandra L. Kniffin - updated : 4/27/2006<br>Patricia A. Hartz - updated : 3/24/2006<br>Ada Hamosh - updated : 8/15/2005<br>Cassandra L. Kniffin - updated : 4/14/2005<br>Marla J. F. O'Neill - updated : 4/11/2005<br>Marla J. F. O'Neill - updated : 9/8/2004<br>Marla J. F. O'Neill - updated : 2/18/2004<br>Cassandra L. Kniffin - updated : 10/3/2003<br>Jane Kelly - updated : 8/25/2003<br>Jane Kelly - updated : 3/26/2003<br>John A. Phillips, III - updated : 12/6/2002<br>Dawn Watkins-Chow - updated : 6/14/2002<br>Paul J. Converse - updated : 3/12/2002<br>Victor A. McKusick - updated : 6/25/2001<br>Ada Hamosh - updated : 8/17/2000<br>Patti M. Sherman - updated : 7/27/2000<br>Ada Hamosh - updated : 6/3/1999<br>Stylianos E. Antonarakis - updated : 4/1/1998<br>Victor A. McKusick - updated : 4/15/1997
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Victor A. McKusick : 6/2/1989
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