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<title>
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Entry
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- *601103 - MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601103</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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<li role="presentation">
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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="#mapping">Mapping</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="#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>
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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/601103">Table View</a>
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</li>
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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 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=ENSG00000197614;t=ENST00000359478" 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=8076" 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=601103" 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=ENSG00000197614;t=ENST00000359478" 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_001297709,NM_001297710,NM_001297711,NM_001297712,NM_003480,NR_123733,NR_123734" 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_003480" 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=601103" 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=03063&isoform_id=03063_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/MFAP5" 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/1165212,2498553,4505089,13543486,33415011,119609019,119609020,158254602,164691031,193784879,194388844,663071064,663071066,663071068,663071070,675359561,2462534524,2462534526" 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/Q13361" 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=8076" 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=ENSG00000197614;t=ENST00000359478" 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=MFAP5" 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=MFAP5" 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+8076" 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/MFAP5" 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:8076" 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/8076" 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=chr12&hgg_gene=ENST00000359478.7&hgg_start=8645943&hgg_end=8662826&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://search.clinicalgenome.org/kb/genes/HGNC:29673" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601103[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=601103[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/ENSG00000197614" 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=MFAP5" 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=MFAP5" 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=MFAP5" 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=MFAP5&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/PA134915148" 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:29673" 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:1354387" 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/MFAP5#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:1354387" 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/8076/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=8076" 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="https://zfin.org/ZDB-GENE-100922-279" 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">
|
|
<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://reactome.org/content/query?q=MFAP5&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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</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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601103
|
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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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MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MFAP5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MFAP5</a></em></strong>
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/12/115?start=-3&limit=10&highlight=115">12p13.31</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:8645943-8662826&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'})">12:8,645,943-8,662,826</a> </span>
|
|
</em>
|
|
</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>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/115?start=-3&limit=10&highlight=115">
|
|
12p13.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Aortic aneurysm, familial thoracic 9
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616166"> 616166 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>MFAP5 is a component of fibrillin-containing microfibrils where it partners with MFAP2 (MAGP; <a href="/entry/156790">156790</a>) and other microfibril-associated proteins to define microfibril function (summary by <a href="#2" class="mim-tip-reference" title="Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P. <strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong> J. Biol. Chem. 288: 28869-28880, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23963447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23963447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23963447[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/10.1074/jbc.M113.497727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23963447">Combs et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23963447" 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="#3" class="mim-tip-reference" title="Gibson, M. A., Hatzinikolas, G., Kumaratilake, J. S., Sandberg, L. B., Nicholl, J. K., Sutherland, G. R., Cleary, E. G. <strong>Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25).</strong> J. Biol. Chem. 271: 1096-1103, 1996. Note: Erratum: J. Biol. Chem. 271: 5288 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557636</a>] [<a href="https://doi.org/10.1074/jbc.271.2.1096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557636">Gibson et al. (1996)</a> found that MAGP2 (MFAP5), also referred to as MP25, is approximately 80% homologous in bovine and human and contains 170 and 173 amino acids, respectively. MAGP (MFAP2; <a href="/entry/156790">156790</a>) was referred to as MAGP1 by <a href="#3" class="mim-tip-reference" title="Gibson, M. A., Hatzinikolas, G., Kumaratilake, J. S., Sandberg, L. B., Nicholl, J. K., Sutherland, G. R., Cleary, E. G. <strong>Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25).</strong> J. Biol. Chem. 271: 1096-1103, 1996. Note: Erratum: J. Biol. Chem. 271: 5288 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557636</a>] [<a href="https://doi.org/10.1074/jbc.271.2.1096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557636">Gibson et al. (1996)</a>. The close similarity between MAGP1 and MAGP2 was confined to a central region of 60 amino acids where there is precise alignment of 7 cysteine residues. Elsewhere, the MAGP2 molecule is rich in serine and threonine residues and contains an RGD motif. MAGP2 lacks the proline-, glutamine-, and tyrosine-rich sequences and a hydrophobic carboxyl terminus, characteristic of MAGP1. These structural differences suggest that MAGP2 has some functions that are distinct from those of MAGP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557636" 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="#6" class="mim-tip-reference" title="Hatzinikolas, G., Gibson, M. A. <strong>The exon structure of the human MAGP-2 gene: similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region.</strong> J. Biol. Chem. 273: 29309-29314, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792630</a>] [<a href="https://doi.org/10.1074/jbc.273.45.29309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792630">Hatzinikolas and Gibson (1998)</a> determined that the MFAP5 gene contains 10 exons and spans about 11 kb. The translation initiation codon is in exon 2, and a single major transcription initiation site is located 213 bp upstream. The promoter region is AT rich, but it lacks a TATA box and other common regulatory elements. However, the sequence surrounding the transcription start site is similar to an initiator element found in highly regulated, TATA-less genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792630" 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="#3" class="mim-tip-reference" title="Gibson, M. A., Hatzinikolas, G., Kumaratilake, J. S., Sandberg, L. B., Nicholl, J. K., Sutherland, G. R., Cleary, E. G. <strong>Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25).</strong> J. Biol. Chem. 271: 1096-1103, 1996. Note: Erratum: J. Biol. Chem. 271: 5288 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557636</a>] [<a href="https://doi.org/10.1074/jbc.271.2.1096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557636">Gibson et al. (1996)</a> mapped the MFAP5 gene to chromosome 12p13.1-p12.3 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557636" 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="#4" class="mim-tip-reference" title="Gibson, M. A., Leavesley, D. I., Ashman, L. K. <strong>Microfibril-associated glycoprotein-2 specifically interacts with a range of bovine and human cell types via alpha-V-beta-3 integrin.</strong> J. Biol. Chem. 274: 13060-13065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10224057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10224057</a>] [<a href="https://doi.org/10.1074/jbc.274.19.13060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10224057">Gibson et al. (1999)</a> found that purified bovine Magp2 functioned as a substrate for adherence of fetal bovine aortic smooth muscle cells, ear cartilage chondrocytes, and arterial endothelial cells and human skin fibroblasts and osteoblasts. Human peripheral blood monocytes and several human cancer cell lines did not adhere to Magp2. Except for endothelial cells, each adherent cell type was able to spread on the Magp2 substrate. Binding was inhibited by calcium chelation, exposure to antiintegrin alpha-V (ITGAV; <a href="/entry/193210">193210</a>)-beta-3 (ITGB3; <a href="/entry/173470">173470</a>) antibody, or exposure to a peptide containing the integrin-binding RGD sequence of Magp2. Magp1, which lacks the RGD motif, required 10-fold greater molar quantities to promote equivalent cellular adherence. <a href="#4" class="mim-tip-reference" title="Gibson, M. A., Leavesley, D. I., Ashman, L. K. <strong>Microfibril-associated glycoprotein-2 specifically interacts with a range of bovine and human cell types via alpha-V-beta-3 integrin.</strong> J. Biol. Chem. 274: 13060-13065, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10224057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10224057</a>] [<a href="https://doi.org/10.1074/jbc.274.19.13060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10224057">Gibson et al. (1999)</a> concluded that MAGP2 promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10224057" 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="#7" class="mim-tip-reference" title="Segade, F., Trask, B. C., Broekelmann, T. J., Pierce, R. A., Mecham, R. P. <strong>Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms.</strong> J. Biol. Chem. 277: 11050-11057, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11796718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11796718</a>] [<a href="https://doi.org/10.1074/jbc.M110347200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11796718">Segade et al. (2002)</a> found that fluorescence-tagged human MAGP2 was secreted from transfected RFL-6 rat lung fibroblasts, but that, unlike MAGP1, it did not associate with the extracellular matrix (ECM). Both MAGP1 and MAGP2 contain a putative C-terminal ECM-binding domain, but MAGP1A contains 7 cysteines within this domain, whereas MAGP2 contains only 6. <a href="#7" class="mim-tip-reference" title="Segade, F., Trask, B. C., Broekelmann, T. J., Pierce, R. A., Mecham, R. P. <strong>Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms.</strong> J. Biol. Chem. 277: 11050-11057, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11796718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11796718</a>] [<a href="https://doi.org/10.1074/jbc.M110347200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11796718">Segade et al. (2002)</a> found that substitution of val101 with cys in MAGP2 permitted association of MAGP2 with ECM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11796718" 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 solid-phase binding assays, <a href="#5" class="mim-tip-reference" title="Hanssen, E., Hew, F. H., Moore, E., Gibson, M. A. <strong>MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.</strong> J. Biol. Chem. 279: 29185-29194, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15131124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15131124</a>] [<a href="https://doi.org/10.1074/jbc.M313672200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15131124">Hanssen et al. (2004)</a> found that purified fetal bovine Magp1 and Magp2 showed distinct patterns of binding to recombinant human fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>) and FBN2 (<a href="/entry/612570">612570</a>). Both bound the same central region of FBN1, but they also bound distinct N-terminal sites of FBN1. Immunogold labeling of developing bovine nuchal ligament revealed regular covalent and periodic association of Magp2 with fibrillin-containing microfibrils and that Magp2 was attached at 2 distinct points. In contrast, Magp1 had only a single attachment site. <a href="#5" class="mim-tip-reference" title="Hanssen, E., Hew, F. H., Moore, E., Gibson, M. A. <strong>MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.</strong> J. Biol. Chem. 279: 29185-29194, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15131124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15131124</a>] [<a href="https://doi.org/10.1074/jbc.M313672200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15131124">Hanssen et al. (2004)</a> hypothesized that MAGP2 may be involved in the stabilization of fibrillin monomers within microfibrils by forming interdomain and/or intermonomer connections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15131124" 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="Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P. <strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong> J. Biol. Chem. 288: 28869-28880, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23963447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23963447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23963447[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/10.1074/jbc.M113.497727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23963447">Combs et al. (2013)</a> found that mouse Magp2 protein bound active human TGFB1 (<a href="/entry/190180">190180</a>), mouse Tgfb2 (<a href="/entry/190220">190220</a>), and mouse Bmp2 (<a href="/entry/112261">112261</a>) in solid-phase binding assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23963447" 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 2 unrelated families with thoracic aortic aneurysm-9 (AAT9; <a href="/entry/616166">616166</a>), <a href="#1" class="mim-tip-reference" title="Barbier, M., Gross, M.-S., Aubart, M., Hanna, N., Kessler, K., Guo, D.-C., Tosolini, L., Ho-Tin-Noe, B., Regalado, E., Varret, M., Abifadel, M., Milleron, O., and 10 others. <strong>MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 95: 736-743, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434006[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/10.1016/j.ajhg.2014.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434006">Barbier et al. (2014)</a> identified heterozygosity for a nonsense (R158X; <a href="#0001">601103.0001</a>) and a missense (W21L; <a href="#0002">601103.0002</a>) mutation in the MFAP5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434006" 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="#2" class="mim-tip-reference" title="Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P. <strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong> J. Biol. Chem. 288: 28869-28880, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23963447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23963447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23963447[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/10.1074/jbc.M113.497727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23963447">Combs et al. (2013)</a> found that mice with targeted inactivation of the Mfap5 gene appeared normal by several measures, were fertile, and had a normal life span, but were neutropenic. The authors noted that, in contrast, Mfap2 -/- mice were monocytopenic. <a href="#2" class="mim-tip-reference" title="Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P. <strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong> J. Biol. Chem. 288: 28869-28880, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23963447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23963447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23963447[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/10.1074/jbc.M113.497727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23963447">Combs et al. (2013)</a> demonstrated that double knockout of both genes resulted in age-related aortic dilation, indicating that the MAGP genes are important in maintaining large vessel integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23963447" 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=601103[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727502791 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502791;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs727502791?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs727502791" 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=rs727502791" 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=RCV000149579 OR RCV001374805 OR RCV002516008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149579, RCV001374805, RCV002516008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149579...</a>
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<p>In affected individuals from a 3-generation family segregating autosomal dominant thoracic aortic aneurysm-9 (AAT9; <a href="/entry/616166">616166</a>), <a href="#1" class="mim-tip-reference" title="Barbier, M., Gross, M.-S., Aubart, M., Hanna, N., Kessler, K., Guo, D.-C., Tosolini, L., Ho-Tin-Noe, B., Regalado, E., Varret, M., Abifadel, M., Milleron, O., and 10 others. <strong>MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 95: 736-743, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434006[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/10.1016/j.ajhg.2014.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434006">Barbier et al. (2014)</a> identified heterozygosity for a c.472C-T transition in exon 10 of the MFAP5 gene, resulting in an arg158-to-ter (R158X) substitution. The mutation was not found in unaffected family members. Analysis of patient fibroblasts demonstrated pure haploinsufficiency, and transfection studies confirmed that the R158X mutation abrogates protein production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434006" 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"><span class="text-primary">●</span> rs724159961 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159961;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs724159961?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs724159961" 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=rs724159961" 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=RCV000149580 OR RCV001850028 OR RCV004767094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149580, RCV001850028, RCV004767094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149580...</a>
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<p>In a 58-year-old woman with thoracic aortic aneurysm and type A aortic dissection (AAT9; <a href="/entry/616166">616166</a>), <a href="#1" class="mim-tip-reference" title="Barbier, M., Gross, M.-S., Aubart, M., Hanna, N., Kessler, K., Guo, D.-C., Tosolini, L., Ho-Tin-Noe, B., Regalado, E., Varret, M., Abifadel, M., Milleron, O., and 10 others. <strong>MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 95: 736-743, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434006[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/10.1016/j.ajhg.2014.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434006">Barbier et al. (2014)</a> identified heterozygosity for a c.62G-T transversion in exon 3 of the MFAP5 gene, resulting in a trp21-to-leu (W21L) substitution at a highly conserved residue in the N-terminal domain, near a putative peptide-signal cleavage site. The mutation was also found in her affected sister and daughter. Transfection studies showed that the signal from the W21L mutant was significantly lower than that of wildtype in cellular lysates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434006" 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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Barbier, M., Gross, M.-S., Aubart, M., Hanna, N., Kessler, K., Guo, D.-C., Tosolini, L., Ho-Tin-Noe, B., Regalado, E., Varret, M., Abifadel, M., Milleron, O., and 10 others.
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<strong>MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.</strong>
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Am. J. Hum. Genet. 95: 736-743, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434006" 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/j.ajhg.2014.10.018" target="_blank">Full Text</a>]
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Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P.
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<strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong>
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J. Biol. Chem. 288: 28869-28880, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23963447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23963447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23963447[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23963447" 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.M113.497727" target="_blank">Full Text</a>]
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Gibson, M. A., Hatzinikolas, G., Kumaratilake, J. S., Sandberg, L. B., Nicholl, J. K., Sutherland, G. R., Cleary, E. G.
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<strong>Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25).</strong>
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J. Biol. Chem. 271: 1096-1103, 1996. Note: Erratum: J. Biol. Chem. 271: 5288 only, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557636" 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.271.2.1096" target="_blank">Full Text</a>]
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Gibson, M. A., Leavesley, D. I., Ashman, L. K.
|
|
<strong>Microfibril-associated glycoprotein-2 specifically interacts with a range of bovine and human cell types via alpha-V-beta-3 integrin.</strong>
|
|
J. Biol. Chem. 274: 13060-13065, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10224057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10224057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10224057" 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.274.19.13060" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Hanssen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanssen, E., Hew, F. H., Moore, E., Gibson, M. A.
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<strong>MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.</strong>
|
|
J. Biol. Chem. 279: 29185-29194, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15131124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15131124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15131124" 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.M313672200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hatzinikolas1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hatzinikolas, G., Gibson, M. A.
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<strong>The exon structure of the human MAGP-2 gene: similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region.</strong>
|
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J. Biol. Chem. 273: 29309-29314, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792630" 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.273.45.29309" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Segade2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Segade, F., Trask, B. C., Broekelmann, T. J., Pierce, R. A., Mecham, R. P.
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<strong>Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms.</strong>
|
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J. Biol. Chem. 277: 11050-11057, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11796718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11796718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11796718" 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.M110347200" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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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 : 1/5/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Patricia A. Hartz - updated : 4/2/2014<br>Patricia A. Hartz - updated : 1/13/2014<br>Alan F. Scott - updated : 10/21/2013<br>Harry C. Dietz - updated : 3/8/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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 : 3/6/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" 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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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 05/22/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 1/6/2015<br>mcolton : 1/5/2015<br>mgross : 4/2/2014<br>mcolton : 4/2/2014<br>carol : 1/28/2014<br>mgross : 1/13/2014<br>mcolton : 12/12/2013<br>carol : 10/21/2013<br>carol : 4/18/2013<br>carol : 2/4/2009<br>mark : 10/1/1997<br>alopez : 9/5/1997<br>mark : 4/11/1996<br>mark : 3/21/1996<br>mark : 3/8/1996<br>mark : 3/6/1996
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</span>
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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 class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601103
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5
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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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<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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MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MFAP5</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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<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: 12p13.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:8,645,943-8,662,826 </span>
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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>
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Phenotype
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</th>
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<th>
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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>
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<td rowspan="1">
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<span class="mim-font">
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12p13.31
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</span>
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</td>
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<td>
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<span class="mim-font">
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Aortic aneurysm, familial thoracic 9
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</span>
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</td>
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<td>
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<span class="mim-font">
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616166
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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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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<br />
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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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>MFAP5 is a component of fibrillin-containing microfibrils where it partners with MFAP2 (MAGP; 156790) and other microfibril-associated proteins to define microfibril function (summary by Combs et al., 2013). </p>
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</span>
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<div>
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<br />
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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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gibson et al. (1996) found that MAGP2 (MFAP5), also referred to as MP25, is approximately 80% homologous in bovine and human and contains 170 and 173 amino acids, respectively. MAGP (MFAP2; 156790) was referred to as MAGP1 by Gibson et al. (1996). The close similarity between MAGP1 and MAGP2 was confined to a central region of 60 amino acids where there is precise alignment of 7 cysteine residues. Elsewhere, the MAGP2 molecule is rich in serine and threonine residues and contains an RGD motif. MAGP2 lacks the proline-, glutamine-, and tyrosine-rich sequences and a hydrophobic carboxyl terminus, characteristic of MAGP1. These structural differences suggest that MAGP2 has some functions that are distinct from those of MAGP1. </p>
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</span>
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<div>
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<br />
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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>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Hatzinikolas and Gibson (1998) determined that the MFAP5 gene contains 10 exons and spans about 11 kb. The translation initiation codon is in exon 2, and a single major transcription initiation site is located 213 bp upstream. The promoter region is AT rich, but it lacks a TATA box and other common regulatory elements. However, the sequence surrounding the transcription start site is similar to an initiator element found in highly regulated, TATA-less genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Gibson et al. (1996) mapped the MFAP5 gene to chromosome 12p13.1-p12.3 by fluorescence in situ hybridization. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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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>Gene Function</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Gibson et al. (1999) found that purified bovine Magp2 functioned as a substrate for adherence of fetal bovine aortic smooth muscle cells, ear cartilage chondrocytes, and arterial endothelial cells and human skin fibroblasts and osteoblasts. Human peripheral blood monocytes and several human cancer cell lines did not adhere to Magp2. Except for endothelial cells, each adherent cell type was able to spread on the Magp2 substrate. Binding was inhibited by calcium chelation, exposure to antiintegrin alpha-V (ITGAV; 193210)-beta-3 (ITGB3; 173470) antibody, or exposure to a peptide containing the integrin-binding RGD sequence of Magp2. Magp1, which lacks the RGD motif, required 10-fold greater molar quantities to promote equivalent cellular adherence. Gibson et al. (1999) concluded that MAGP2 promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. </p><p>Segade et al. (2002) found that fluorescence-tagged human MAGP2 was secreted from transfected RFL-6 rat lung fibroblasts, but that, unlike MAGP1, it did not associate with the extracellular matrix (ECM). Both MAGP1 and MAGP2 contain a putative C-terminal ECM-binding domain, but MAGP1A contains 7 cysteines within this domain, whereas MAGP2 contains only 6. Segade et al. (2002) found that substitution of val101 with cys in MAGP2 permitted association of MAGP2 with ECM. </p><p>Using solid-phase binding assays, Hanssen et al. (2004) found that purified fetal bovine Magp1 and Magp2 showed distinct patterns of binding to recombinant human fibrillin-1 (FBN1; 134797) and FBN2 (612570). Both bound the same central region of FBN1, but they also bound distinct N-terminal sites of FBN1. Immunogold labeling of developing bovine nuchal ligament revealed regular covalent and periodic association of Magp2 with fibrillin-containing microfibrils and that Magp2 was attached at 2 distinct points. In contrast, Magp1 had only a single attachment site. Hanssen et al. (2004) hypothesized that MAGP2 may be involved in the stabilization of fibrillin monomers within microfibrils by forming interdomain and/or intermonomer connections. </p><p>Combs et al. (2013) found that mouse Magp2 protein bound active human TGFB1 (190180), mouse Tgfb2 (190220), and mouse Bmp2 (112261) in solid-phase binding assays. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>In 2 unrelated families with thoracic aortic aneurysm-9 (AAT9; 616166), Barbier et al. (2014) identified heterozygosity for a nonsense (R158X; 601103.0001) and a missense (W21L; 601103.0002) mutation in the MFAP5 gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Combs et al. (2013) found that mice with targeted inactivation of the Mfap5 gene appeared normal by several measures, were fertile, and had a normal life span, but were neutropenic. The authors noted that, in contrast, Mfap2 -/- mice were monocytopenic. Combs et al. (2013) demonstrated that double knockout of both genes resulted in age-related aortic dilation, indicating that the MAGP genes are important in maintaining large vessel integrity. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<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 AORTIC ANEURYSM, FAMILIAL THORACIC 9</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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MFAP5, ARG158TER
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<br />
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SNP: rs727502791,
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gnomAD: rs727502791,
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ClinVar: RCV000149579, RCV001374805, RCV002516008
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</span>
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</div>
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<span class="mim-text-font">
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<p>In affected individuals from a 3-generation family segregating autosomal dominant thoracic aortic aneurysm-9 (AAT9; 616166), Barbier et al. (2014) identified heterozygosity for a c.472C-T transition in exon 10 of the MFAP5 gene, resulting in an arg158-to-ter (R158X) substitution. The mutation was not found in unaffected family members. Analysis of patient fibroblasts demonstrated pure haploinsufficiency, and transfection studies confirmed that the R158X mutation abrogates protein production. </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 AORTIC ANEURYSM, FAMILIAL THORACIC 9</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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MFAP5, TRP21LEU
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<br />
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SNP: rs724159961,
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gnomAD: rs724159961,
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ClinVar: RCV000149580, RCV001850028, RCV004767094
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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 58-year-old woman with thoracic aortic aneurysm and type A aortic dissection (AAT9; 616166), Barbier et al. (2014) identified heterozygosity for a c.62G-T transversion in exon 3 of the MFAP5 gene, resulting in a trp21-to-leu (W21L) substitution at a highly conserved residue in the N-terminal domain, near a putative peptide-signal cleavage site. The mutation was also found in her affected sister and daughter. Transfection studies showed that the signal from the W21L mutant was significantly lower than that of wildtype in cellular lysates. </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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Barbier, M., Gross, M.-S., Aubart, M., Hanna, N., Kessler, K., Guo, D.-C., Tosolini, L., Ho-Tin-Noe, B., Regalado, E., Varret, M., Abifadel, M., Milleron, O., and 10 others.
|
|
<strong>MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.</strong>
|
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Am. J. Hum. Genet. 95: 736-743, 2014.
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[PubMed: 25434006]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.10.018]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Combs, M. D., Knutsen, R. H., Broekelmann, T. J., Toennies, H. M., Brett, T. J., Miller, C. A., Kober, D. L., Craft, C. S., Atkinson, J. J., Shipley, J. M., Trask, B. C., Mecham, R. P.
|
|
<strong>Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo.</strong>
|
|
J. Biol. Chem. 288: 28869-28880, 2013.
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[PubMed: 23963447]
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[Full Text: https://doi.org/10.1074/jbc.M113.497727]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gibson, M. A., Hatzinikolas, G., Kumaratilake, J. S., Sandberg, L. B., Nicholl, J. K., Sutherland, G. R., Cleary, E. G.
|
|
<strong>Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25).</strong>
|
|
J. Biol. Chem. 271: 1096-1103, 1996. Note: Erratum: J. Biol. Chem. 271: 5288 only, 1996.
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[PubMed: 8557636]
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[Full Text: https://doi.org/10.1074/jbc.271.2.1096]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gibson, M. A., Leavesley, D. I., Ashman, L. K.
|
|
<strong>Microfibril-associated glycoprotein-2 specifically interacts with a range of bovine and human cell types via alpha-V-beta-3 integrin.</strong>
|
|
J. Biol. Chem. 274: 13060-13065, 1999.
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[PubMed: 10224057]
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[Full Text: https://doi.org/10.1074/jbc.274.19.13060]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hanssen, E., Hew, F. H., Moore, E., Gibson, M. A.
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|
<strong>MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils.</strong>
|
|
J. Biol. Chem. 279: 29185-29194, 2004.
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[PubMed: 15131124]
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[Full Text: https://doi.org/10.1074/jbc.M313672200]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hatzinikolas, G., Gibson, M. A.
|
|
<strong>The exon structure of the human MAGP-2 gene: similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region.</strong>
|
|
J. Biol. Chem. 273: 29309-29314, 1998.
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|
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|
|
[PubMed: 9792630]
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[Full Text: https://doi.org/10.1074/jbc.273.45.29309]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Segade, F., Trask, B. C., Broekelmann, T. J., Pierce, R. A., Mecham, R. P.
|
|
<strong>Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms.</strong>
|
|
J. Biol. Chem. 277: 11050-11057, 2002.
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[PubMed: 11796718]
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[Full Text: https://doi.org/10.1074/jbc.M110347200]
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</p>
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</li>
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</ol>
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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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<div class="row">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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 : 1/5/2015<br>Patricia A. Hartz - updated : 4/2/2014<br>Patricia A. Hartz - updated : 1/13/2014<br>Alan F. Scott - updated : 10/21/2013<br>Harry C. Dietz - updated : 3/8/1996
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</span>
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</div>
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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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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 : 3/6/1996
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</span>
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</div>
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<br />
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carol : 05/22/2015<br>carol : 1/6/2015<br>mcolton : 1/5/2015<br>mgross : 4/2/2014<br>mcolton : 4/2/2014<br>carol : 1/28/2014<br>mgross : 1/13/2014<br>mcolton : 12/12/2013<br>carol : 10/21/2013<br>carol : 4/18/2013<br>carol : 2/4/2009<br>mark : 10/1/1997<br>alopez : 9/5/1997<br>mark : 4/11/1996<br>mark : 3/21/1996<br>mark : 3/8/1996<br>mark : 3/6/1996
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