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Entry
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- *123833 - CYCLIN D2; CCND2
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- OMIM
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<p>
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<span class="h4">*123833</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</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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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/123833">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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 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=ENSG00000118971;t=ENST00000261254" 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=894" 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=123833" 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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<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=ENSG00000118971;t=ENST00000261254" 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_001759" 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_001759" 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=123833" 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=00451&isoform_id=00451_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/CCND2" 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/38416,180000,180010,231741,285991,4502617,15012105,21435963,54696556,58475990,62898886,119609257,158255728" 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/P30279" 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=894" 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=ENSG00000118971;t=ENST00000261254" 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=CCND2" 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=CCND2" 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+894" 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/CCND2" 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:894" 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/894" 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=ENST00000261254.8&hgg_start=4273762&hgg_end=4305353&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/ccnd2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123833[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 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=123833[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://www.deciphergenomics.org/gene/CCND2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000118971" 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=CCND2" 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=CCND2" 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=CCND2" 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=CCND2&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/PA26150" 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:1583" 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://flybase.org/reports/FBgn0010315.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88314" 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/CCND2#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:88314" 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/894/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=894" 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://wormbase.org/db/gene/gene?name=WBGene00000870;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050420-354" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:894" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CCND2&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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123833
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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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CYCLIN D2; CCND2
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CCND2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CCND2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/30?start=-3&limit=10&highlight=30">12p13.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:4273762-4305353&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'})">12:4,273,762-4,305,353</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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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<a href="/geneMap/12/30?start=-3&limit=10&highlight=30">
|
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12p13.32
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</a>
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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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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
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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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<a href="/entry/615938"> 615938 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/123833" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/123833" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Inaba, T., Matsushime, H., Valentine, M., Roussel, M. F., Sherr, C. J., Look, A. T. <strong>Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.</strong> Genomics 13: 565-574, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386335</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90126-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386335">Inaba et al. (1992)</a> used murine cDNA clones for 3 cyclin D genes that are normally expressed during the G1 phase of the cell cycle to clone the cognate human genes. <a href="#7" class="mim-tip-reference" title="Xiong, Y., Menninger, J., Beach, D., Ward, D. C. <strong>Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins.</strong> Genomics 13: 575-584, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386336</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90127-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386336">Xiong et al. (1992)</a> also reported the cloning of the CCND2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1386335+1386336" 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>Using microarray analysis of gene expression signatures, <a href="#5" class="mim-tip-reference" title="Lossos, I. S., Czerwinski, D. K., Alizadeh, A. A., Wechser, M. A., Tibshirani, R., Botstein, D., Levy, R. <strong>Prediction of survival in diffuse large-B-cell lymphoma based on the expression of six genes.</strong> New Eng. J. Med. 350: 1828-1837, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15115829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15115829</a>] [<a href="https://doi.org/10.1056/NEJMoa032520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15115829">Lossos et al. (2004)</a> studied prediction of prognosis in diffuse large B-cell lymphoma. In a univariate analysis, genes were ranked on the basis of their ability to predict survival; the strongest predictors of longer overall survival were LMO2 (<a href="/entry/180385">180385</a>), BCL6 (<a href="/entry/109565">109565</a>), and FN1 (<a href="/entry/135600">135600</a>), and the strongest predictors of shorter overall survival were CCND2, SCYA3 (<a href="/entry/182283">182283</a>), and BCL2 (<a href="/entry/151430">151430</a>). <a href="#5" class="mim-tip-reference" title="Lossos, I. S., Czerwinski, D. K., Alizadeh, A. A., Wechser, M. A., Tibshirani, R., Botstein, D., Levy, R. <strong>Prediction of survival in diffuse large-B-cell lymphoma based on the expression of six genes.</strong> New Eng. J. Med. 350: 1828-1837, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15115829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15115829</a>] [<a href="https://doi.org/10.1056/NEJMoa032520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15115829">Lossos et al. (2004)</a> developed a multivariate model that was based on the expression of these 6 genes, and validated the model in 2 independent microarray data sets. The model was independent of the International Prognostic Index and added to its predictive power. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15115829" 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 knockdown and microarray analysis, <a href="#2" class="mim-tip-reference" title="Jeong, O.-S., Chae, Y.-C., Jung, H., Park, S. C., Cho, S.-J., Kook, H., Seo, S. <strong>Long noncoding RNA linc00598 regulates CCND2 transcription and modulates the G1 checkpoint.</strong> Sci. Rep. 6: 32172, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27572135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27572135</a>] [<a href="https://doi.org/10.1038/srep32172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27572135">Jeong et al. (2016)</a> showed that the dominant variant of long intergenic noncoding RNA-598 (LINC00598; <a href="/entry/619008">619008</a>) functioned as a transcriptional regulator of various target genes, including CCND2, in HEK293T cells. LINC00598 regulated expression of CCND2 by reducing the binding affinity of FOXO1A (<a href="/entry/136533">136533</a>), a negative regulator of CCND2, for the CCND2 promoter. Knockdown of LINC00598 in HEK293T cells induced G0-G1 cell cycle arrest and inhibited cell proliferation. Overexpression of CCND2 rescued G1 arrest in LINC00598-knockdown cells, suggesting that LINC00598 regulates cell proliferation through modulation of the G0-G1 checkpoint via transcriptional regulation of CCND2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27572135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of somatic cell hybrids containing different human chromosomes and by fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="Inaba, T., Matsushime, H., Valentine, M., Roussel, M. F., Sherr, C. J., Look, A. T. <strong>Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.</strong> Genomics 13: 565-574, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386335</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90126-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386335">Inaba et al. (1992)</a> assigned the CCND2 gene to 12p13. (Since the CCND1 gene (<a href="/entry/168461">168461</a>) is on 11q13, this may be another bit of evidence of the homology of chromosomes 11 and 12.) <a href="#7" class="mim-tip-reference" title="Xiong, Y., Menninger, J., Beach, D., Ward, D. C. <strong>Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins.</strong> Genomics 13: 575-584, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386336</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90127-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386336">Xiong et al. (1992)</a> assigned the CCND2 gene to 12p13 by fluorescence in situ hybridization. A pseudogene of CCND2 was mapped to 11q13 by <a href="#1" class="mim-tip-reference" title="Inaba, T., Matsushime, H., Valentine, M., Roussel, M. F., Sherr, C. J., Look, A. T. <strong>Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.</strong> Genomics 13: 565-574, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386335</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90126-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386335">Inaba et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1386335+1386336" 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 12 probands with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-3 (MPPH3; <a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified 7 different heterozygous mutations in the CCND2 gene (<a href="#0001">123833.0001</a>-<a href="#0006">123833.0006</a>). The mutations in the first 3 patients were found by whole-exome sequencing; the mutations in 9 additional patients were found by conventional Sanger sequencing. The mutations occurred de novo in all patients from whom parental DNA was available, except for 1 parent who was mosaic for the mutation. All of the mutations either altered conserved residues surrounding thr280, a GSK3B (<a href="/entry/605004">605004</a>) phosphorylation target necessary for subsequent protein degradation, or truncated the mutation before this phosphorylation site. Transfection of the CCND2 mutations into HEK293 cells resulted in abnormal accumulation of unphosphorylated, degradation-resistant cyclin D2. In utero electroporation of the T280A (<a href="#0001">123833.0001</a>) or P281R (<a href="#0005">123833.0005</a>) mutations into mouse embryos resulted in increased numbers of actively dividing cells in the cortical plate compared to wildtype. These phosphodeficient mutants were more effective in promoting mitosis and were associated with decreased exit from the cell cycle compared to wildtype. These changes were associated with expansion of both radial glial cells and intermediate progenitor cells in the developing cortex. Cells from individuals with megalencephaly due to PIK3CA (<a href="/entry/171834">171834</a>), PIK3R2 (<a href="/entry/603157">603157</a>), or AKT3 (<a href="/entry/611223">611223</a>) mutations showed similar CCND2 accumulation, which indicated that activation of the PI3K-AKT pathway resulting in increased CCND2 is a unifying mechanism in these related disorders. The findings were consistent with a gain-of-function effect of the CCND2 mutations, and <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> suggested that the expansion of neuronal progenitor populations underlies the megalencephaly as well as the polymicrogyria observed in the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" 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="Kim, H. A., Pomeroy, S. L., Whoriskey, W., Pawlitzky, I., Benowitz, L. I., Sicinski, P., Stiles, C. D., Roberts, T. M. <strong>A developmentally regulated switch directs regenerative growth of Schwann cells through cyclin D1.</strong> Neuron 26: 405-416, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839359</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)81173-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839359">Kim et al. (2000)</a> used Ccnd1 (<a href="/entry/168461">168461</a>)- and Ccnd2-deficient mice to investigate the role of cyclins in Schwann cell growth. They concluded that neither Ccnd1 nor Ccnd2 is specifically required for the initial growth and maturation of Schwann cells during mouse development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839359" 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="#4" class="mim-tip-reference" title="Kozar, K., Ciemerych, M. A., Rebel, V. I., Shigematsu, H., Zagozdzon, A., Sicinska, E., Geng, Y., Yu, Q., Bhattacharya, S., Bronson, R. T., Akashi, K., Sicinski, P. <strong>Mouse development and cell proliferation in the absence of D-cyclins.</strong> Cell 118: 477-491, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15315760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15315760</a>] [<a href="https://doi.org/10.1016/j.cell.2004.07.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15315760">Kozar et al. (2004)</a> tested the requirement for D-cyclins in mouse development and in proliferation by generating mice lacking all D-cyclins. Ccnd1 -/- Ccnd2 -/- Ccnd3 -/- mice developed until mid/late gestation and died due to heart abnormalities combined with severe anemia. The authors found that D-cyclins were critically required for expansion of hematopoietic stem cells. In contrast, cyclin D-deficient fibroblasts proliferated nearly normally, but showed increased requirement for mitogenic stimulation in cell cycle reentry. Proliferation of Ccnd1 -/- Ccnd2 -/- Ccnd3 -/- cells was resistant to inhibition by p16(INK4a) (<a href="/entry/600160">600160</a>), but it critically depended on CDK2 (<a href="/entry/116953">116953</a>). Cells lacking D-cyclins displayed reduced susceptibility to oncogenic transformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15315760" 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 children with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-3 (MPPH3; <a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a de novo heterozygous c.838A-G transition in the CCND2 gene, resulting in a thr280-to-ala (T280A) substitution at a highly conserved residue. The mutation, which was found in the first patient by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777619;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777619" 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=rs587777619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated children with MPPH3 (<a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a de novo heterozygous c.808A-T transversion in the CCND2 gene, resulting in a lys270-to-ter (K270X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777620 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777620;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/rs587777620?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=rs587777620" 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=rs587777620" 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=RCV000133497 OR RCV000264513 OR RCV001849314" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133497, RCV000264513, RCV001849314" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133497...</a>
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<p>In 3 unrelated children with MPPH3 (<a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a heterozygous c.839C-A transversion in the CCND2 gene, resulting in a thr280-to-asn (T280N) substitution at a highly conserved residue. The mutation occurred de novo in 2 patients; parental DNA was not available for the third patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777621;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777621" 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=rs587777621" 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=RCV000133498 OR RCV004589635" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133498, RCV004589635" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133498...</a>
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<p>In a fetus with MPPH3 (<a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a de novo heterozygous c.841C-T transition in the CCND2 gene, resulting in a pro281-to-ser (P281S) substitution at a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777622;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777622" 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=rs587777622" 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=RCV000133499 OR RCV001384753 OR RCV003390829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133499, RCV001384753, RCV003390829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133499...</a>
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<p>In 2 unrelated patients with MPPH3 (<a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a heterozygous c.842C-G transversion in the CCND2 gene, resulting in a pro281-to-arg (P281R) substitution at a highly conserved residue. The mutation occurred de novo in 1 patient and was not found in the mother of the second patient; paternal DNA from the second patient was not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777622;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777622" 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=rs587777622" 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=RCV000133500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133500</a>
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<p>In a 9-year-old boy with MPPH3 (<a href="/entry/615938">615938</a>), <a href="#6" class="mim-tip-reference" title="Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others. <strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong> Nature Genet. 46: 510-515, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24705253">Mirzaa et al. (2014)</a> identified a heterozygous c.842C-T transition in the CCND2 gene, resulting in a pro281-to-leu (P281L) substitution at a highly conserved residue. The patient's mother, who had a large head, hypertelorism, and borderline intelligence, appeared to be mosaic for the mutation based on blood and saliva studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Inaba1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Inaba, T., Matsushime, H., Valentine, M., Roussel, M. F., Sherr, C. J., Look, A. T.
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<strong>Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.</strong>
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Genomics 13: 565-574, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1386335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90126-d" target="_blank">Full Text</a>]
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<a id="Jeong2016" class="mim-anchor"></a>
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Jeong, O.-S., Chae, Y.-C., Jung, H., Park, S. C., Cho, S.-J., Kook, H., Seo, S.
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<strong>Long noncoding RNA linc00598 regulates CCND2 transcription and modulates the G1 checkpoint.</strong>
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Sci. Rep. 6: 32172, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27572135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27572135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27572135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/srep32172" target="_blank">Full Text</a>]
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<a id="Kim2000" class="mim-anchor"></a>
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Kim, H. A., Pomeroy, S. L., Whoriskey, W., Pawlitzky, I., Benowitz, L. I., Sicinski, P., Stiles, C. D., Roberts, T. M.
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<strong>A developmentally regulated switch directs regenerative growth of Schwann cells through cyclin D1.</strong>
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Neuron 26: 405-416, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839359" 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/s0896-6273(00)81173-3" target="_blank">Full Text</a>]
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<a id="Kozar2004" class="mim-anchor"></a>
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Kozar, K., Ciemerych, M. A., Rebel, V. I., Shigematsu, H., Zagozdzon, A., Sicinska, E., Geng, Y., Yu, Q., Bhattacharya, S., Bronson, R. T., Akashi, K., Sicinski, P.
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<strong>Mouse development and cell proliferation in the absence of D-cyclins.</strong>
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Cell 118: 477-491, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15315760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15315760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15315760" 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.cell.2004.07.025" target="_blank">Full Text</a>]
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<a id="Lossos2004" class="mim-anchor"></a>
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Lossos, I. S., Czerwinski, D. K., Alizadeh, A. A., Wechser, M. A., Tibshirani, R., Botstein, D., Levy, R.
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<strong>Prediction of survival in diffuse large-B-cell lymphoma based on the expression of six genes.</strong>
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New Eng. J. Med. 350: 1828-1837, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15115829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15115829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15115829" 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/10.1056/NEJMoa032520" target="_blank">Full Text</a>]
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<a id="Mirzaa2014" class="mim-anchor"></a>
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Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others.
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<strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong>
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Nature Genet. 46: 510-515, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24705253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24705253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24705253[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=24705253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2948" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Xiong1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xiong, Y., Menninger, J., Beach, D., Ward, D. C.
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<strong>Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins.</strong>
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Genomics 13: 575-584, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1386336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90127-e" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 09/03/2020
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/12/2014<br>Stylianos E. Antonarakis - updated : 9/2/2004<br>Victor A. McKusick - updated : 5/20/2004<br>Dawn Watkins-Chow - updated : 12/7/2001
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/1992
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mgross : 09/03/2020
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<span class="mim-text-font">
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alopez : 08/19/2014<br>ckniffin : 8/12/2014<br>mcolton : 6/16/2014<br>ckniffin : 6/12/2014<br>mgross : 9/2/2004<br>tkritzer : 5/20/2004<br>terry : 12/7/2001<br>terry : 8/5/1997<br>carol : 2/9/1993<br>carol : 6/29/1992
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<strong>*</strong> 123833
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<h3>
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CYCLIN D2; CCND2
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<strong><em>HGNC Approved Gene Symbol: CCND2</em></strong>
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Cytogenetic location: 12p13.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:4,273,762-4,305,353 </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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<strong>Gene-Phenotype Relationships</strong>
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<thead>
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Location
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Phenotype
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<th>
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Phenotype <br /> MIM number
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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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<td rowspan="1">
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<span class="mim-font">
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12p13.32
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<td>
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<span class="mim-font">
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
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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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615938
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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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</td>
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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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<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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<span class="mim-text-font">
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<p>Inaba et al. (1992) used murine cDNA clones for 3 cyclin D genes that are normally expressed during the G1 phase of the cell cycle to clone the cognate human genes. Xiong et al. (1992) also reported the cloning of the CCND2 gene. </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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<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">
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<p>Using microarray analysis of gene expression signatures, Lossos et al. (2004) studied prediction of prognosis in diffuse large B-cell lymphoma. In a univariate analysis, genes were ranked on the basis of their ability to predict survival; the strongest predictors of longer overall survival were LMO2 (180385), BCL6 (109565), and FN1 (135600), and the strongest predictors of shorter overall survival were CCND2, SCYA3 (182283), and BCL2 (151430). Lossos et al. (2004) developed a multivariate model that was based on the expression of these 6 genes, and validated the model in 2 independent microarray data sets. The model was independent of the International Prognostic Index and added to its predictive power. </p><p>Using knockdown and microarray analysis, Jeong et al. (2016) showed that the dominant variant of long intergenic noncoding RNA-598 (LINC00598; 619008) functioned as a transcriptional regulator of various target genes, including CCND2, in HEK293T cells. LINC00598 regulated expression of CCND2 by reducing the binding affinity of FOXO1A (136533), a negative regulator of CCND2, for the CCND2 promoter. Knockdown of LINC00598 in HEK293T cells induced G0-G1 cell cycle arrest and inhibited cell proliferation. Overexpression of CCND2 rescued G1 arrest in LINC00598-knockdown cells, suggesting that LINC00598 regulates cell proliferation through modulation of the G0-G1 checkpoint via transcriptional regulation of CCND2. </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>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>By analysis of somatic cell hybrids containing different human chromosomes and by fluorescence in situ hybridization, Inaba et al. (1992) assigned the CCND2 gene to 12p13. (Since the CCND1 gene (168461) is on 11q13, this may be another bit of evidence of the homology of chromosomes 11 and 12.) Xiong et al. (1992) assigned the CCND2 gene to 12p13 by fluorescence in situ hybridization. A pseudogene of CCND2 was mapped to 11q13 by Inaba et al. (1992). </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>Molecular Genetics</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>In 12 probands with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-3 (MPPH3; 615938), Mirzaa et al. (2014) identified 7 different heterozygous mutations in the CCND2 gene (123833.0001-123833.0006). The mutations in the first 3 patients were found by whole-exome sequencing; the mutations in 9 additional patients were found by conventional Sanger sequencing. The mutations occurred de novo in all patients from whom parental DNA was available, except for 1 parent who was mosaic for the mutation. All of the mutations either altered conserved residues surrounding thr280, a GSK3B (605004) phosphorylation target necessary for subsequent protein degradation, or truncated the mutation before this phosphorylation site. Transfection of the CCND2 mutations into HEK293 cells resulted in abnormal accumulation of unphosphorylated, degradation-resistant cyclin D2. In utero electroporation of the T280A (123833.0001) or P281R (123833.0005) mutations into mouse embryos resulted in increased numbers of actively dividing cells in the cortical plate compared to wildtype. These phosphodeficient mutants were more effective in promoting mitosis and were associated with decreased exit from the cell cycle compared to wildtype. These changes were associated with expansion of both radial glial cells and intermediate progenitor cells in the developing cortex. Cells from individuals with megalencephaly due to PIK3CA (171834), PIK3R2 (603157), or AKT3 (611223) mutations showed similar CCND2 accumulation, which indicated that activation of the PI3K-AKT pathway resulting in increased CCND2 is a unifying mechanism in these related disorders. The findings were consistent with a gain-of-function effect of the CCND2 mutations, and Mirzaa et al. (2014) suggested that the expansion of neuronal progenitor populations underlies the megalencephaly as well as the polymicrogyria observed in the disorder. </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>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">
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<p>Kim et al. (2000) used Ccnd1 (168461)- and Ccnd2-deficient mice to investigate the role of cyclins in Schwann cell growth. They concluded that neither Ccnd1 nor Ccnd2 is specifically required for the initial growth and maturation of Schwann cells during mouse development. </p><p>Kozar et al. (2004) tested the requirement for D-cyclins in mouse development and in proliferation by generating mice lacking all D-cyclins. Ccnd1 -/- Ccnd2 -/- Ccnd3 -/- mice developed until mid/late gestation and died due to heart abnormalities combined with severe anemia. The authors found that D-cyclins were critically required for expansion of hematopoietic stem cells. In contrast, cyclin D-deficient fibroblasts proliferated nearly normally, but showed increased requirement for mitogenic stimulation in cell cycle reentry. Proliferation of Ccnd1 -/- Ccnd2 -/- Ccnd3 -/- cells was resistant to inhibition by p16(INK4a) (600160), but it critically depended on CDK2 (116953). Cells lacking D-cyclins displayed reduced susceptibility to oncogenic transformation. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</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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CCND2, THR280ALA
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<br />
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SNP: rs587777618,
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ClinVar: RCV000133495, RCV000623001, RCV003328556
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated children with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-3 (MPPH3; 615938), Mirzaa et al. (2014) identified a de novo heterozygous c.838A-G transition in the CCND2 gene, resulting in a thr280-to-ala (T280A) substitution at a highly conserved residue. The mutation, which was found in the first patient by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases. </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">
|
|
<strong>.0002 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</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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CCND2, LYS270TER
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<br />
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SNP: rs587777619,
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ClinVar: RCV000133496
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 unrelated children with MPPH3 (615938), Mirzaa et al. (2014) identified a de novo heterozygous c.808A-T transversion in the CCND2 gene, resulting in a lys270-to-ter (K270X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 132), 1000 Genomes Project, or Exome Variant Server databases. </p>
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>.0003 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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CCND2, THR280ASN
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<br />
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|
|
SNP: rs587777620,
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|
|
|
|
|
gnomAD: rs587777620,
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|
|
|
ClinVar: RCV000133497, RCV000264513, RCV001849314
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated children with MPPH3 (615938), Mirzaa et al. (2014) identified a heterozygous c.839C-A transversion in the CCND2 gene, resulting in a thr280-to-asn (T280N) substitution at a highly conserved residue. The mutation occurred de novo in 2 patients; parental DNA was not available for the third patient. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCND2, PRO281SER
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs587777621,
|
|
|
|
|
|
|
|
ClinVar: RCV000133498, RCV004589635
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a fetus with MPPH3 (615938), Mirzaa et al. (2014) identified a de novo heterozygous c.841C-T transition in the CCND2 gene, resulting in a pro281-to-ser (P281S) substitution at a highly conserved residue. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCND2, PRO281ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777622,
|
|
|
|
|
|
|
|
ClinVar: RCV000133499, RCV001384753, RCV003390829
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with MPPH3 (615938), Mirzaa et al. (2014) identified a heterozygous c.842C-G transversion in the CCND2 gene, resulting in a pro281-to-arg (P281R) substitution at a highly conserved residue. The mutation occurred de novo in 1 patient and was not found in the mother of the second patient; paternal DNA from the second patient was not available. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCND2, PRO281LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777622,
|
|
|
|
|
|
|
|
ClinVar: RCV000133500
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old boy with MPPH3 (615938), Mirzaa et al. (2014) identified a heterozygous c.842C-T transition in the CCND2 gene, resulting in a pro281-to-leu (P281L) substitution at a highly conserved residue. The patient's mother, who had a large head, hypertelorism, and borderline intelligence, appeared to be mosaic for the mutation based on blood and saliva studies. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inaba, T., Matsushime, H., Valentine, M., Roussel, M. F., Sherr, C. J., Look, A. T.
|
|
<strong>Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.</strong>
|
|
Genomics 13: 565-574, 1992.
|
|
|
|
|
|
[PubMed: 1386335]
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|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90126-d]
|
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|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jeong, O.-S., Chae, Y.-C., Jung, H., Park, S. C., Cho, S.-J., Kook, H., Seo, S.
|
|
<strong>Long noncoding RNA linc00598 regulates CCND2 transcription and modulates the G1 checkpoint.</strong>
|
|
Sci. Rep. 6: 32172, 2016. Note: Electronic Article.
|
|
|
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|
|
[PubMed: 27572135]
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|
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[Full Text: https://doi.org/10.1038/srep32172]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kim, H. A., Pomeroy, S. L., Whoriskey, W., Pawlitzky, I., Benowitz, L. I., Sicinski, P., Stiles, C. D., Roberts, T. M.
|
|
<strong>A developmentally regulated switch directs regenerative growth of Schwann cells through cyclin D1.</strong>
|
|
Neuron 26: 405-416, 2000.
|
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|
|
[PubMed: 10839359]
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[Full Text: https://doi.org/10.1016/s0896-6273(00)81173-3]
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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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Kozar, K., Ciemerych, M. A., Rebel, V. I., Shigematsu, H., Zagozdzon, A., Sicinska, E., Geng, Y., Yu, Q., Bhattacharya, S., Bronson, R. T., Akashi, K., Sicinski, P.
|
|
<strong>Mouse development and cell proliferation in the absence of D-cyclins.</strong>
|
|
Cell 118: 477-491, 2004.
|
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|
|
[PubMed: 15315760]
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|
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[Full Text: https://doi.org/10.1016/j.cell.2004.07.025]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lossos, I. S., Czerwinski, D. K., Alizadeh, A. A., Wechser, M. A., Tibshirani, R., Botstein, D., Levy, R.
|
|
<strong>Prediction of survival in diffuse large-B-cell lymphoma based on the expression of six genes.</strong>
|
|
New Eng. J. Med. 350: 1828-1837, 2004.
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[PubMed: 15115829]
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[Full Text: https://doi.org/10.1056/NEJMoa032520]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., Logan, C. V., Roberts, N., Johnson, C. A., Singh, S., Kholmanskikh, S. S., Adams, C., and 22 others.
|
|
<strong>De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.</strong>
|
|
Nature Genet. 46: 510-515, 2014.
|
|
|
|
|
|
[PubMed: 24705253]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/ng.2948]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Xiong, Y., Menninger, J., Beach, D., Ward, D. C.
|
|
<strong>Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins.</strong>
|
|
Genomics 13: 575-584, 1992.
|
|
|
|
|
|
[PubMed: 1386336]
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90127-e]
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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">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 09/03/2020<br>Cassandra L. Kniffin - updated : 6/12/2014<br>Stylianos E. Antonarakis - updated : 9/2/2004<br>Victor A. McKusick - updated : 5/20/2004<br>Dawn Watkins-Chow - updated : 12/7/2001
|
|
</span>
|
|
</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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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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