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Entry
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- *603504 - CELL DIVISION CYCLE 14A; CDC14A
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<div class="row">
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<p />
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</div>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603504</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603504">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
|
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</h4>
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</div>
|
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000079335;t=ENST00000336454" 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=8556" 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=603504" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000079335;t=ENST00000336454" 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_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313" 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_003672" 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=603504" 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=04614&isoform_id=04614_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/CDC14A" 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/2662417,3136328,3136330,5732662,15451929,15451931,15451933,24659438,47777659,55976620,62089300,62739607,62740039,104737931,119593362,119593363,119593364,119593365,119593366,194379364,984655777,984655779,984655781" 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/Q9UNH5" 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=8556" 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=ENSG00000079335;t=ENST00000336454" 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=CDC14A" 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=CDC14A" 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+8556" 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/CDC14A" 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:8556" 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/8556" 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=chr1&hgg_gene=ENST00000336454.5&hgg_start=100345001&hgg_end=100520277&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1718" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603504[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603504[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000079335" 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=CDC14A" 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=CDC14A" 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=CDC14A" 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=CDC14A&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/PA26254" 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:1718" 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/FBgn0031952.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:2442676" 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/CDC14A#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:2442676" 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/8556/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=8556" 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=WBGene00000383;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-040426-1214" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:8556" 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=CDC14A&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>
|
|
<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>
|
|
603504
|
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
CELL DIVISION CYCLE 14A; CDC14A
|
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|
|
</span>
|
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</h3>
|
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</div>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
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</div>
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|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CDC14A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CDC14A</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/838?start=-3&limit=10&highlight=838">1p21.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:100345001-100520277&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'})">1:100,345,001-100,520,277</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/838?start=-3&limit=10&highlight=838">
|
|
1p21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 32, with or without immotile sperm
|
|
|
|
</span>
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<p>In S. cerevisiae, the cdc14 gene is essential for cell cycle progression. Analysis of the cdc14 point of action suggests that the protein acts in late nuclear division, and may play a role in preparation for DNA replication during the subsequent cell cycle. By searching an EST database for cdc14 homologs, <a href="#5" class="mim-tip-reference" title="Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E. <strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong> J. Biol. Chem. 272: 29403-29406, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367992</a>] [<a href="https://doi.org/10.1074/jbc.272.47.29403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9367992">Li et al. (1997)</a> identified partial CDC14A and PTEN (<a href="/entry/601728">601728</a>) cDNAs. They used the CDC14A cDNA to screen heart and fetal libraries and recovered additional CDC14A cDNAs and a CDC14B (<a href="/entry/603505">603505</a>) cDNA. Like the yeast cdc14 protein, CDC14A, CDC14B, and PTEN contain a putative protein-tyrosine phosphatase (PTPase) domain. The predicted 580-amino acid CDC14A protein shares 64% identity with yeast cdc14, while PTEN is more closely related to a different yeast gene. Using a chimeric GFP-CDC14A protein, <a href="#5" class="mim-tip-reference" title="Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E. <strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong> J. Biol. Chem. 272: 29403-29406, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367992</a>] [<a href="https://doi.org/10.1074/jbc.272.47.29403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9367992">Li et al. (1997)</a> localized CDC14A specifically to the nucleus of mammalian cells. Northern blot analysis revealed that the CDC14A gene is expressed as 1.8- and 4.4-kb mRNAs in all tissues, with the strongest expression in kidney, heart, and skeletal muscle. The authors observed additional transcripts in some tissues, which they considered to be either alternatively spliced CDC14A mRNAs or transcripts from related genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9367992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> stated that 6 different CDC14A transcripts resulting from alternative splicing had been reported. The largest deduced protein contains 623 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunofluorescence experiments on mouse inner ear between embryonic day 18.5 and postnatal day 21, <a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> demonstrated the presence of Cdc14a from early stages of hair-bundle differentiation onward, along both the transient kinocilia of developing cochlear hair cells and the persistent kinocilia of vestibular hair cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" 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="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> analyzed expression and localization of Cdc14a in the mouse inner ear and observed association with the upper one-third of stereocilia as well as tubulin-rich structures in hair cells, including kinocilia, basal bodies, and the pericuticular ring. In zebrafish neuromast cells, endogenous cdc14a was also present in kinocilia of hair cells. In transfected COS-7 cells and supporting cells of the organ of Corti, CDC14A was associated with filamentous tubulin in the cytoplasm. Using a LacZ reporter as a proxy for cell type-specific expression of Cdc14a in mice, the authors observed prominent activity in the organ of Corti and vestibular sensory epithelia, consistent with endogenous Cdc14a localization that persisted at least until postnatal day 60. Signal was also detected in cells of the lamina spiralis ossea and in spiral ganglions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" 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 genomic sequence analysis, <a href="#9" class="mim-tip-reference" title="Wong, A. K. C., Chen, Y., Lian, L., Ha, P. C., Peterson, K., Laity, K., Carillo, A., Emerson, M., Heichman, K., Gupte, J., Tavtigian, S. V., Teng, D. H.-F. <strong>Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.</strong> Genomics 59: 248-251, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409437</a>] [<a href="https://doi.org/10.1006/geno.1999.5863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10409437">Wong et al. (1999)</a> determined that the CDC14A gene contains 16 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> stated that the CDC14A gene contains 18 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" 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 radiation hybrid analysis, <a href="#9" class="mim-tip-reference" title="Wong, A. K. C., Chen, Y., Lian, L., Ha, P. C., Peterson, K., Laity, K., Carillo, A., Emerson, M., Heichman, K., Gupte, J., Tavtigian, S. V., Teng, D. H.-F. <strong>Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.</strong> Genomics 59: 248-251, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409437</a>] [<a href="https://doi.org/10.1006/geno.1999.5863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10409437">Wong et al. (1999)</a> mapped the CDC14A gene to chromosome 1p21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409437" 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="#5" class="mim-tip-reference" title="Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E. <strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong> J. Biol. Chem. 272: 29403-29406, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367992</a>] [<a href="https://doi.org/10.1074/jbc.272.47.29403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9367992">Li et al. (1997)</a> found that recombinant CDC14A exhibited the kinetic properties of dual-specific phosphatases (see <a href="/entry/602038">602038</a>) in vitro. Plasmids expressing CDC14A specifically rescued the cell cycle-arrest phenotype of a cdc14 mutant yeast strain. <a href="#5" class="mim-tip-reference" title="Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E. <strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong> J. Biol. Chem. 272: 29403-29406, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9367992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9367992</a>] [<a href="https://doi.org/10.1074/jbc.272.47.29403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9367992">Li et al. (1997)</a> stated that the structural and functional equivalence of the yeast and human CDC14 PTPases suggests that the human protein may play an essential role in controlling mammalian cell cycle events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9367992" 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 derivatives of an osteosarcoma cell line conditionally expressing CDC14A, <a href="#6" class="mim-tip-reference" title="Mailand, N., Lukas, C., Kaiser, B. K., Jackson, P. K., Bartek, J., Lukas, J. <strong>Deregulated human Cdc14A phosphatase disrupts centrosome separation and chromosome segregation.</strong> Nature Cell Biol. 4: 317-322, 2002. Note: Erratum: Nature Cell Biol. 8: 897 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11901424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11901424</a>] [<a href="https://doi.org/10.1038/ncb777" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11901424">Mailand et al. (2002)</a> determined that both overexpression and downregulation of CDC14A caused aberrant chromosome partitioning into daughter cells. CDC14A interacted with interphase centrosomes, and this interaction was independent of microtubules and CDC14A phosphatase activity. The interaction required nuclear export, however, and disruption of the nuclear export signal (NES) led to CDC14A accumulation in nucleoli. Conditional overexpression of CDC14A resulted in premature centrosome splitting and formation of supernumerary mitotic spindles, and these effects were independent of CDC14A phosphatase activity. Downregulation of endogenous CDC14A by short inhibitory RNA duplexes induced mitotic defects, including impaired centrosome separation and failure to undergo cytokinesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11901424" 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>The inner centromere-like protein (INCENP; <a href="/entry/604411">604411</a>) forms a complex with the evolutionarily conserved family of Aurora B kinases (see <a href="/entry/604970">604970</a>). The INCENP-Aurora complex helps coordinate chromosome segregation, spindle behavior, and cytokinesis during mitosis. INCENP-Aurora associates with kinetochores in metaphase and with spindle microtubules in anaphase. <a href="#8" class="mim-tip-reference" title="Pereira, G., Schiebel, E. <strong>Separase regulates INCENP-Aurora B anaphase spindle function through Cdc14.</strong> Science 302: 2120-2124, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605209</a>] [<a href="https://doi.org/10.1126/science.1091936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14605209">Pereira and Schiebel (2003)</a> demonstrated that the conserved phosphatase CDC14 regulates the yeast INCENP-Aurora complex, Sli15-lpl1. CDC14 dephosphorylated Sli15 and thereby directed the complex to spindles. Activation of CDC14 by separase (<a href="/entry/604143">604143</a>) was sufficient for Sli15 dephosphorylation and relocalization. CDC14 not only regulates mitotic exit but also modulates spindle midzone assembly through Sli15-lpl1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605209" 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>Anaphase is initiated when a ubiquitin ligase, the anaphase-promoting complex (APC; see <a href="/entry/608473">608473</a>), triggers the destruction of securin (<a href="/entry/604147">604147</a>), thereby allowing separase, a protease, to disrupt sister chromatid cohesion. <a href="#3" class="mim-tip-reference" title="Holt, L. J., Krutchinsky, A. N., Morgan, D. O. <strong>Positive feedback sharpens the anaphase switch.</strong> Nature 454: 353-357, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552837[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/nature07050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18552837">Holt et al. (2008)</a> demonstrated that the cyclin-dependent kinase-1 (CDK1; <a href="/entry/116940">116940</a>)-dependent phosphorylation of securin near its destruction-box motif inhibits securin ubiquitination by the APC. The phosphatase Cdc14 reverses securin phosphorylation, thereby increasing the rate of securin ubiquitination. Because separase is known to activate Cdc14, <a href="#3" class="mim-tip-reference" title="Holt, L. J., Krutchinsky, A. N., Morgan, D. O. <strong>Positive feedback sharpens the anaphase switch.</strong> Nature 454: 353-357, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552837[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/nature07050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18552837">Holt et al. (2008)</a> concluded that their results supported the existence of a positive feedback loop that increases the abruptness of anaphase. Consistent with this model, they showed that mutations that disrupt securin phosphoregulation decreased the synchrony of chromosome segregation. <a href="#3" class="mim-tip-reference" title="Holt, L. J., Krutchinsky, A. N., Morgan, D. O. <strong>Positive feedback sharpens the anaphase switch.</strong> Nature 454: 353-357, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552837[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/nature07050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18552837">Holt et al. (2008)</a> also concluded that coupling securin degradation with changes in Cdk1 and Cdc14 activities helps coordinate the initiation of sister chromatid separation with changes in spindle dynamics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18552837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Clemente-Blanco, A., Mayan-Santos, M., Schneider, D. A., Machin, F., Jarmuz, A., Tschochner, H., Aragon, L. <strong>Cdc14 inhibits transcription by RNA polymerase I during anaphase.</strong> Nature 458: 219-222, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19158678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19158678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19158678[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/nature07652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19158678">Clemente-Blanco et al. (2009)</a> demonstrated that Cdc14, a protein phosphatase required for nucleolar segregation and mitotic exit, inhibits transcription of yeast ribosomal genes (rDNA) during anaphase. The phosphatase activity of Cdc14 is required for RNA polymerase I (Pol I) inhibition in vitro and in vivo. Moreover, Cdc14-dependent inhibition involves nucleolar exclusion of Pol I subunits. The authors demonstrated that transcription inhibition is necessary for complete chromosome disjunction, because ribosomal RNA transcripts block condensin binding to rDNA, and show that bypassing the role of Cdc14 in nucleolar segregation requires in vivo degradation of nascent transcripts. <a href="#1" class="mim-tip-reference" title="Clemente-Blanco, A., Mayan-Santos, M., Schneider, D. A., Machin, F., Jarmuz, A., Tschochner, H., Aragon, L. <strong>Cdc14 inhibits transcription by RNA polymerase I during anaphase.</strong> Nature 458: 219-222, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19158678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19158678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19158678[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/nature07652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19158678">Clemente-Blanco et al. (2009)</a> concluded that transcription interferes with chromosome condensation, not the reverse, and that budding yeast, like most eukaryotes, inhibit Pol I transcription before segregation as a prerequisite for chromosome condensation and faithful genome separation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19158678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from a consanguineous Iranian family with autosomal recessive deafness mapping to chromosome 1p21 (DFNB32; <a href="/entry/608653">608653</a>), <a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> identified homozygosity for a nonsense mutation in the CDC14A gene (R376X; <a href="#0001">603504.0001</a>) that segregated fully with disease in the family and was not found in controls or in public databases. (The form of deafness mapped by <a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> was previously designated DFNB105.) Whole-exome sequencing of 115 unrelated individuals from Maghreb with severe or profound congenital deafness identified a Mauritanian patient with profound deafness who was homozygous for another nonsense mutation in CDC14A (R339X; <a href="#0002">603504.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals from 8 consanguineous families segregating autosomal recessive deafness, <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for mutations in the CDC14A gene (see, e.g., <a href="#0001">603504.0001</a> and <a href="#0003">603504.0003</a>-<a href="#0007">603504.0007</a>). Deaf men from 5 of the families reported infertility, and semen analyses showed high percentages of immotile sperm with abnormal morphology; deaf women exhibited normal fertility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> performed knockdown of cdc14a in zebrafish and found no gross morphologic defects of the inner ear at 3 days postfertilization; however, they observed significant shortening of hair cell kinocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" 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="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> generated 3 different mutant alleles of mouse Cdc14a and observed high rates of perinatal lethality for homozygotes and compound heterozygotes. The rare survivors showed only residual hearing at low frequencies on postnatal day (P) 16, and hearing loss progressed to profound deafness at all frequencies by P90. Distortion-product otoacoustic emissions were absent at all ages tested, indicating a loss of outer hair cell (OHC) function in the mutant mice as early as P16; however, endocochlear potentials were normal, consistent with intact stria vascularis function. Deaf male mice were infertile, whereas homozygous mutant deaf females had many litters of healthy pups. Histologic examination of mutant testis showed subcapsular degeneration of the seminiferous tubules, with loss of spermatogenic cells, vacuolization of sustentacular cells, and partial collapse of the lumina. There were retained spermatid heads at the basement membrane and/or aggregates of spermatids around residual bodies, and a significant decrease in epididymal sperm count with an increased number of abnormal sperm and excessive fragmentation, in mutant males compared to control littermates. Staining to visualize the inner-ear cytoskeleton of homozygous and compound heterozygous mutants showed degeneration of inner and OHCs of the apical turn starting at P17, with fusion of some stereocilia together. By P90, 50% of mutant inner and OHCs were missing, compared to 0.5% for wildtype littermates; however, the mutant mice were profoundly deaf at P90, suggesting that an additional malfunction in the auditory system might contribute to the hearing loss. Scanning electron microscopy of inner ears of mice homozygous for a CRISPR/Cas9-generated C278S mutation in Cdc14a that ablates phosphatase catalytic activity showed changes similar to those due to other mutant alleles of Cdc14a, with fusion of stereocilia and degeneration of hair cells by P60. The homozygous mice were profoundly deaf, and male mice were infertile with degeneration of seminiferous tubules and low sperm counts. The authors noted that reduced numbers of homozygous C278S survivors suggested that phosphatase catalytic activity also promotes perinatal viability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000223951 OR RCV001836758 OR RCV004757174" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000223951, RCV001836758, RCV004757174" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000223951...</a>
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<p>In affected members of a consanguineous Iranian family with severe prelingual deafness (DFNB32; <a href="/entry/608653">608653</a>), <a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> identified homozygosity for a c.1126C-T transition (c.1126C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg376-to-ter (R376X) substitution. The mutation segregated fully with disease in the family and was not found in 150 Iranian controls or in the 1000 Genomes Project or Exome Variant Server databases. The reported pedigree included a deaf man with an obligate carrier daughter, who entered into a consanguineous marriage and had 2 deaf children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" 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="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> reported a consanguineous Iranian family (MORL2) in which 2 sisters and a brother had autosomal recessive prelingual sensorineural moderate to profound hearing loss due to homozygosity for the R376X mutation. The deaf brother had a biologic son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs777112652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs777112652;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/rs777112652?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=rs777112652" 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=rs777112652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male patient from Mauritia with profound deafness (DFNB32; <a href="/entry/608653">608653</a>), <a href="#2" class="mim-tip-reference" title="Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C. <strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong> Am. J. Hum. Genet. 98: 1266-1270, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27259055">Delmaghani et al. (2016)</a> identified homozygosity for a c.1015C-T transition (c.1015C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg339-to-ter (R339X) substitution. The mutation was not found in 105 controls, including 50 Mauritanian individuals. The fertility of the proband was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27259055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs369245990 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs369245990;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/rs369245990?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=rs369245990" 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=rs369245990" 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=RCV000677135 OR RCV003480758" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677135, RCV003480758" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677135...</a>
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<p>In a large consanguineous Tunisian pedigree (FT1) segregating autosomal recessive prelingual sensorineural moderate to profound hearing loss (DFNB32; <a href="/entry/608653">608653</a>), originally studied by <a href="#7" class="mim-tip-reference" title="Masmoudi, S., Tlili, A., Majava, M., Ghorbel, A. M., Chardenoux, S., Lemainque, A., Zina, Z. B., Moala, J., Mannikko, M., Weil, D., Lathrop, M., Ala-Kokko, L., Drira, M., Petit, C., Ayadi, H. <strong>Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.</strong> Europ. J. Hum. Genet. 11: 185-188, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634867</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12634867">Masmoudi et al. (2003)</a>, <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for a c.935G-A transition (c.935G-A, NM_033312.2) in exon 10 of the CDC14A gene, resulting in an arg312-to-gln (R312Q) substitution at a highly conserved residue within the core dual-specificity phosphatase domain. The mutation segregated fully with disease in the pedigree. The fertility status of the 3 affected men in the family was reported as unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12634867+29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs148737918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs148737918;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/rs148737918?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=rs148737918" 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=rs148737918" 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 sisters and a brother from an Iranian family (MORL1) with prelingual sensorineural moderate to profound hearing loss (DFNB32; <a href="/entry/608653">608653</a>), <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for a c.934C-G transversion (c.934C-G, NM_033312.2) in exon 10 of the CDC14A gene, resulting in an arg312-to-gly (R312G) substitution at a highly conserved residue within the core dual-specificity phosphatase domain. The mutation segregated fully with disease in the family. Semen analysis in the 29-year-old deaf brother showed 68 million sperm/mL, of which 67% were immotile and 20% exhibited abnormal morphology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs759201338 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs759201338;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/rs759201338?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=rs759201338" 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=rs759201338" 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=RCV000677137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677137</a>
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<p>In 5 affected members of a large consanguineous Pakistani family (HLRB11) with prelingual sensorineural moderate to profound progressive hearing loss (DFNB32; <a href="/entry/608653">608653</a>), <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for a 1-bp deletion (c.376delT, NM_033312.2) in exon 5 of the CDC14A gene, causing a frameshift predicted to result in a premature termination codon (Tyr126Ilefs64Ter). The fertility status of 1 of the 2 deaf men in the family was reported as unknown. The other, a 25-year-old man, had been married 3 years but had no offspring; semen analysis yielded no sperm, but white and red blood cells were observed in the sample at levels indicative of infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553191001 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553191001;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=rs1553191001" 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=rs1553191001" 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=RCV000677138" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677138" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677138</a>
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<p>In 2 affected men from a consanguineous Pakistani family (HPK1) with prelingual sensorineural moderate hearing loss (DFNB32; <a href="/entry/608653">608653</a>), who used hearing aids in oral conversation, <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for a splice site mutation (c.839-3C-G, NM_033312.2) in intron 9 of the CDC14A gene. Analysis of leukocyte mRNA from affected and unaffected family members revealed 2 aberrant mRNA transcripts, one that skips exon 10 and another that uses a cryptic exon 10 acceptor splice site, both causing frameshifts predicted to result in premature termination codons (Lys279fs16Ter and Lys279fs10Ter, respectively). The fertility status of 1 of the deaf men was reported as unknown; the second deaf man had been married 11 years with no offspring, and semen analysis showed 16 to 50 million sperm/mL, of which 65 to 75% were immotile and 60% exhibited abnormal morphology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs549556142 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs549556142;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/rs549556142?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=rs549556142" 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=rs549556142" 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=RCV000677139 OR RCV001836860 OR RCV003727805" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677139, RCV001836860, RCV003727805" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677139...</a>
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<p>In 2 affected brothers and a sister from a consanguineous Pakistani family (PKSN10) with prelingual sensorineural moderate hearing loss (DFNB32; <a href="/entry/608653">608653</a>), who used hearing aids in oral conversation, <a href="#4" class="mim-tip-reference" title="Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others. <strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong> Hum. Molec. Genet. 27: 780-798, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29293958">Imtiaz et al. (2018)</a> identified homozygosity for a c.1033C-T transition (c.1033C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg345-to-ter (R345X) substitution. Both brothers had biologic offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29293958" 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="Clemente-Blanco2009" class="mim-anchor"></a>
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Clemente-Blanco, A., Mayan-Santos, M., Schneider, D. A., Machin, F., Jarmuz, A., Tschochner, H., Aragon, L.
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<strong>Cdc14 inhibits transcription by RNA polymerase I during anaphase.</strong>
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Nature 458: 219-222, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19158678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19158678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19158678[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=19158678" 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/nature07652" target="_blank">Full Text</a>]
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Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C.
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<strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong>
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Am. J. Hum. Genet. 98: 1266-1270, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27259055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27259055</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27259055[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=27259055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.04.015" target="_blank">Full Text</a>]
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Holt, L. J., Krutchinsky, A. N., Morgan, D. O.
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<strong>Positive feedback sharpens the anaphase switch.</strong>
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Nature 454: 353-357, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18552837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18552837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18552837[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=18552837" 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/nature07050" target="_blank">Full Text</a>]
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Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others.
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<strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong>
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Hum. Molec. Genet. 27: 780-798, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29293958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29293958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29293958[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=29293958" 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/10.1093/hmg/ddx440" target="_blank">Full Text</a>]
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Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E.
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<strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong>
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[<a href="https://doi.org/10.1074/jbc.272.47.29403" target="_blank">Full Text</a>]
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Mailand, N., Lukas, C., Kaiser, B. K., Jackson, P. K., Bartek, J., Lukas, J.
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<strong>Deregulated human Cdc14A phosphatase disrupts centrosome separation and chromosome segregation.</strong>
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Nature Cell Biol. 4: 317-322, 2002. Note: Erratum: Nature Cell Biol. 8: 897 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11901424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11901424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11901424" 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/ncb777" target="_blank">Full Text</a>]
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Masmoudi, S., Tlili, A., Majava, M., Ghorbel, A. M., Chardenoux, S., Lemainque, A., Zina, Z. B., Moala, J., Mannikko, M., Weil, D., Lathrop, M., Ala-Kokko, L., Drira, M., Petit, C., Ayadi, H.
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<strong>Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.</strong>
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Europ. J. Hum. Genet. 11: 185-188, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12634867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12634867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12634867" 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/sj.ejhg.5200934" target="_blank">Full Text</a>]
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Pereira, G., Schiebel, E.
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<strong>Separase regulates INCENP-Aurora B anaphase spindle function through Cdc14.</strong>
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Science 302: 2120-2124, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605209" 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/10.1126/science.1091936" target="_blank">Full Text</a>]
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Wong, A. K. C., Chen, Y., Lian, L., Ha, P. C., Peterson, K., Laity, K., Carillo, A., Emerson, M., Heichman, K., Gupte, J., Tavtigian, S. V., Teng, D. H.-F.
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<strong>Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.</strong>
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Genomics 59: 248-251, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409437" 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/10.1006/geno.1999.5863" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/03/2018
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/02/2016<br>Matthew B. Gross - updated : 10/12/2012<br>Ada Hamosh - updated : 5/12/2009<br>Ada Hamosh - updated : 8/12/2008<br>Ada Hamosh - updated : 12/30/2003<br>Patricia A. Hartz - updated : 2/5/2003<br>Victor A. McKusick - updated : 11/13/2002
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Creation Date:
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<span class="mim-text-font">
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Rebekah S. Rasooly : 2/9/1999
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alopez : 11/14/2023
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joanna : 01/28/2022<br>carol : 08/23/2019<br>carol : 08/06/2018<br>carol : 08/03/2018<br>carol : 06/02/2016<br>mgross : 10/12/2012<br>alopez : 5/15/2009<br>terry : 5/12/2009<br>alopez : 8/25/2008<br>alopez : 8/25/2008<br>terry : 8/12/2008<br>alopez : 12/30/2003<br>terry : 12/30/2003<br>mgross : 2/5/2003<br>mgross : 1/28/2003<br>tkritzer : 11/18/2002<br>terry : 11/13/2002<br>alopez : 2/9/1999
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<strong>*</strong> 603504
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CELL DIVISION CYCLE 14A; CDC14A
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<em>Alternative titles; symbols</em>
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CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A
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<strong><em>HGNC Approved Gene Symbol: CDC14A</em></strong>
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Cytogenetic location: 1p21.2
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1p21.2
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Deafness, autosomal recessive 32, with or without immotile sperm
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<span class="mim-font">
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608653
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>In S. cerevisiae, the cdc14 gene is essential for cell cycle progression. Analysis of the cdc14 point of action suggests that the protein acts in late nuclear division, and may play a role in preparation for DNA replication during the subsequent cell cycle. By searching an EST database for cdc14 homologs, Li et al. (1997) identified partial CDC14A and PTEN (601728) cDNAs. They used the CDC14A cDNA to screen heart and fetal libraries and recovered additional CDC14A cDNAs and a CDC14B (603505) cDNA. Like the yeast cdc14 protein, CDC14A, CDC14B, and PTEN contain a putative protein-tyrosine phosphatase (PTPase) domain. The predicted 580-amino acid CDC14A protein shares 64% identity with yeast cdc14, while PTEN is more closely related to a different yeast gene. Using a chimeric GFP-CDC14A protein, Li et al. (1997) localized CDC14A specifically to the nucleus of mammalian cells. Northern blot analysis revealed that the CDC14A gene is expressed as 1.8- and 4.4-kb mRNAs in all tissues, with the strongest expression in kidney, heart, and skeletal muscle. The authors observed additional transcripts in some tissues, which they considered to be either alternatively spliced CDC14A mRNAs or transcripts from related genes. </p><p>Delmaghani et al. (2016) stated that 6 different CDC14A transcripts resulting from alternative splicing had been reported. The largest deduced protein contains 623 amino acids. </p><p>By immunofluorescence experiments on mouse inner ear between embryonic day 18.5 and postnatal day 21, Delmaghani et al. (2016) demonstrated the presence of Cdc14a from early stages of hair-bundle differentiation onward, along both the transient kinocilia of developing cochlear hair cells and the persistent kinocilia of vestibular hair cells. </p><p>Imtiaz et al. (2018) analyzed expression and localization of Cdc14a in the mouse inner ear and observed association with the upper one-third of stereocilia as well as tubulin-rich structures in hair cells, including kinocilia, basal bodies, and the pericuticular ring. In zebrafish neuromast cells, endogenous cdc14a was also present in kinocilia of hair cells. In transfected COS-7 cells and supporting cells of the organ of Corti, CDC14A was associated with filamentous tubulin in the cytoplasm. Using a LacZ reporter as a proxy for cell type-specific expression of Cdc14a in mice, the authors observed prominent activity in the organ of Corti and vestibular sensory epithelia, consistent with endogenous Cdc14a localization that persisted at least until postnatal day 60. Signal was also detected in cells of the lamina spiralis ossea and in spiral ganglions. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Wong et al. (1999) determined that the CDC14A gene contains 16 exons. </p><p>Delmaghani et al. (2016) stated that the CDC14A gene contains 18 exons. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Wong et al. (1999) mapped the CDC14A gene to chromosome 1p21. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Li et al. (1997) found that recombinant CDC14A exhibited the kinetic properties of dual-specific phosphatases (see 602038) in vitro. Plasmids expressing CDC14A specifically rescued the cell cycle-arrest phenotype of a cdc14 mutant yeast strain. Li et al. (1997) stated that the structural and functional equivalence of the yeast and human CDC14 PTPases suggests that the human protein may play an essential role in controlling mammalian cell cycle events. </p><p>Using derivatives of an osteosarcoma cell line conditionally expressing CDC14A, Mailand et al. (2002) determined that both overexpression and downregulation of CDC14A caused aberrant chromosome partitioning into daughter cells. CDC14A interacted with interphase centrosomes, and this interaction was independent of microtubules and CDC14A phosphatase activity. The interaction required nuclear export, however, and disruption of the nuclear export signal (NES) led to CDC14A accumulation in nucleoli. Conditional overexpression of CDC14A resulted in premature centrosome splitting and formation of supernumerary mitotic spindles, and these effects were independent of CDC14A phosphatase activity. Downregulation of endogenous CDC14A by short inhibitory RNA duplexes induced mitotic defects, including impaired centrosome separation and failure to undergo cytokinesis. </p><p>The inner centromere-like protein (INCENP; 604411) forms a complex with the evolutionarily conserved family of Aurora B kinases (see 604970). The INCENP-Aurora complex helps coordinate chromosome segregation, spindle behavior, and cytokinesis during mitosis. INCENP-Aurora associates with kinetochores in metaphase and with spindle microtubules in anaphase. Pereira and Schiebel (2003) demonstrated that the conserved phosphatase CDC14 regulates the yeast INCENP-Aurora complex, Sli15-lpl1. CDC14 dephosphorylated Sli15 and thereby directed the complex to spindles. Activation of CDC14 by separase (604143) was sufficient for Sli15 dephosphorylation and relocalization. CDC14 not only regulates mitotic exit but also modulates spindle midzone assembly through Sli15-lpl1. </p><p>Anaphase is initiated when a ubiquitin ligase, the anaphase-promoting complex (APC; see 608473), triggers the destruction of securin (604147), thereby allowing separase, a protease, to disrupt sister chromatid cohesion. Holt et al. (2008) demonstrated that the cyclin-dependent kinase-1 (CDK1; 116940)-dependent phosphorylation of securin near its destruction-box motif inhibits securin ubiquitination by the APC. The phosphatase Cdc14 reverses securin phosphorylation, thereby increasing the rate of securin ubiquitination. Because separase is known to activate Cdc14, Holt et al. (2008) concluded that their results supported the existence of a positive feedback loop that increases the abruptness of anaphase. Consistent with this model, they showed that mutations that disrupt securin phosphoregulation decreased the synchrony of chromosome segregation. Holt et al. (2008) also concluded that coupling securin degradation with changes in Cdk1 and Cdc14 activities helps coordinate the initiation of sister chromatid separation with changes in spindle dynamics. </p><p>Clemente-Blanco et al. (2009) demonstrated that Cdc14, a protein phosphatase required for nucleolar segregation and mitotic exit, inhibits transcription of yeast ribosomal genes (rDNA) during anaphase. The phosphatase activity of Cdc14 is required for RNA polymerase I (Pol I) inhibition in vitro and in vivo. Moreover, Cdc14-dependent inhibition involves nucleolar exclusion of Pol I subunits. The authors demonstrated that transcription inhibition is necessary for complete chromosome disjunction, because ribosomal RNA transcripts block condensin binding to rDNA, and show that bypassing the role of Cdc14 in nucleolar segregation requires in vivo degradation of nascent transcripts. Clemente-Blanco et al. (2009) concluded that transcription interferes with chromosome condensation, not the reverse, and that budding yeast, like most eukaryotes, inhibit Pol I transcription before segregation as a prerequisite for chromosome condensation and faithful genome separation. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected individuals from a consanguineous Iranian family with autosomal recessive deafness mapping to chromosome 1p21 (DFNB32; 608653), Delmaghani et al. (2016) identified homozygosity for a nonsense mutation in the CDC14A gene (R376X; 603504.0001) that segregated fully with disease in the family and was not found in controls or in public databases. (The form of deafness mapped by Delmaghani et al. (2016) was previously designated DFNB105.) Whole-exome sequencing of 115 unrelated individuals from Maghreb with severe or profound congenital deafness identified a Mauritanian patient with profound deafness who was homozygous for another nonsense mutation in CDC14A (R339X; 603504.0002). </p><p>In affected individuals from 8 consanguineous families segregating autosomal recessive deafness, Imtiaz et al. (2018) identified homozygosity for mutations in the CDC14A gene (see, e.g., 603504.0001 and 603504.0003-603504.0007). Deaf men from 5 of the families reported infertility, and semen analyses showed high percentages of immotile sperm with abnormal morphology; deaf women exhibited normal fertility. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Delmaghani et al. (2016) performed knockdown of cdc14a in zebrafish and found no gross morphologic defects of the inner ear at 3 days postfertilization; however, they observed significant shortening of hair cell kinocilia. </p><p>Imtiaz et al. (2018) generated 3 different mutant alleles of mouse Cdc14a and observed high rates of perinatal lethality for homozygotes and compound heterozygotes. The rare survivors showed only residual hearing at low frequencies on postnatal day (P) 16, and hearing loss progressed to profound deafness at all frequencies by P90. Distortion-product otoacoustic emissions were absent at all ages tested, indicating a loss of outer hair cell (OHC) function in the mutant mice as early as P16; however, endocochlear potentials were normal, consistent with intact stria vascularis function. Deaf male mice were infertile, whereas homozygous mutant deaf females had many litters of healthy pups. Histologic examination of mutant testis showed subcapsular degeneration of the seminiferous tubules, with loss of spermatogenic cells, vacuolization of sustentacular cells, and partial collapse of the lumina. There were retained spermatid heads at the basement membrane and/or aggregates of spermatids around residual bodies, and a significant decrease in epididymal sperm count with an increased number of abnormal sperm and excessive fragmentation, in mutant males compared to control littermates. Staining to visualize the inner-ear cytoskeleton of homozygous and compound heterozygous mutants showed degeneration of inner and OHCs of the apical turn starting at P17, with fusion of some stereocilia together. By P90, 50% of mutant inner and OHCs were missing, compared to 0.5% for wildtype littermates; however, the mutant mice were profoundly deaf at P90, suggesting that an additional malfunction in the auditory system might contribute to the hearing loss. Scanning electron microscopy of inner ears of mice homozygous for a CRISPR/Cas9-generated C278S mutation in Cdc14a that ablates phosphatase catalytic activity showed changes similar to those due to other mutant alleles of Cdc14a, with fusion of stereocilia and degeneration of hair cells by P60. The homozygous mice were profoundly deaf, and male mice were infertile with degeneration of seminiferous tubules and low sperm counts. The authors noted that reduced numbers of homozygous C278S survivors suggested that phosphatase catalytic activity also promotes perinatal viability. </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>7 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 DEAFNESS, AUTOSOMAL RECESSIVE 32</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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CDC14A, ARG376TER
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<br />
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SNP: rs876661408,
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gnomAD: rs876661408,
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ClinVar: RCV000223951, RCV001836758, RCV004757174
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Iranian family with severe prelingual deafness (DFNB32; 608653), Delmaghani et al. (2016) identified homozygosity for a c.1126C-T transition (c.1126C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg376-to-ter (R376X) substitution. The mutation segregated fully with disease in the family and was not found in 150 Iranian controls or in the 1000 Genomes Project or Exome Variant Server databases. The reported pedigree included a deaf man with an obligate carrier daughter, who entered into a consanguineous marriage and had 2 deaf children. </p><p>Imtiaz et al. (2018) reported a consanguineous Iranian family (MORL2) in which 2 sisters and a brother had autosomal recessive prelingual sensorineural moderate to profound hearing loss due to homozygosity for the R376X mutation. The deaf brother had a biologic son. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 32</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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CDC14A, ARG339TER
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<br />
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SNP: rs777112652,
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gnomAD: rs777112652,
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ClinVar: RCV000223953, RCV002259325
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a male patient from Mauritia with profound deafness (DFNB32; 608653), Delmaghani et al. (2016) identified homozygosity for a c.1015C-T transition (c.1015C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg339-to-ter (R339X) substitution. The mutation was not found in 105 controls, including 50 Mauritanian individuals. The fertility of the proband was not reported. </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>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 32</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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CDC14A, ARG312GLN
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<br />
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SNP: rs369245990,
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gnomAD: rs369245990,
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ClinVar: RCV000677135, RCV003480758
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large consanguineous Tunisian pedigree (FT1) segregating autosomal recessive prelingual sensorineural moderate to profound hearing loss (DFNB32; 608653), originally studied by Masmoudi et al. (2003), Imtiaz et al. (2018) identified homozygosity for a c.935G-A transition (c.935G-A, NM_033312.2) in exon 10 of the CDC14A gene, resulting in an arg312-to-gln (R312Q) substitution at a highly conserved residue within the core dual-specificity phosphatase domain. The mutation segregated fully with disease in the pedigree. The fertility status of the 3 affected men in the family was reported as unknown. </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>.0004 DEAFNESS, AUTOSOMAL RECESSIVE 32 WITH IMMOTILE SPERM</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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CDC14A, ARG312GLY
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<br />
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SNP: rs148737918,
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gnomAD: rs148737918,
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ClinVar: RCV000677136, RCV001855621
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters and a brother from an Iranian family (MORL1) with prelingual sensorineural moderate to profound hearing loss (DFNB32; 608653), Imtiaz et al. (2018) identified homozygosity for a c.934C-G transversion (c.934C-G, NM_033312.2) in exon 10 of the CDC14A gene, resulting in an arg312-to-gly (R312G) substitution at a highly conserved residue within the core dual-specificity phosphatase domain. The mutation segregated fully with disease in the family. Semen analysis in the 29-year-old deaf brother showed 68 million sperm/mL, of which 67% were immotile and 20% exhibited abnormal morphology. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DEAFNESS, AUTOSOMAL RECESSIVE 32 WITH IMMOTILE SPERM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDC14A, 1-BP DEL, 376T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs759201338,
|
|
|
|
|
|
gnomAD: rs759201338,
|
|
|
|
|
|
ClinVar: RCV000677137
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members of a large consanguineous Pakistani family (HLRB11) with prelingual sensorineural moderate to profound progressive hearing loss (DFNB32; 608653), Imtiaz et al. (2018) identified homozygosity for a 1-bp deletion (c.376delT, NM_033312.2) in exon 5 of the CDC14A gene, causing a frameshift predicted to result in a premature termination codon (Tyr126Ilefs64Ter). The fertility status of 1 of the 2 deaf men in the family was reported as unknown. The other, a 25-year-old man, had been married 3 years but had no offspring; semen analysis yielded no sperm, but white and red blood cells were observed in the sample at levels indicative of infection. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 32 WITH IMMOTILE SPERM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDC14A, IVS9AS, C-G, -3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553191001,
|
|
|
|
|
|
|
|
ClinVar: RCV000677138
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected men from a consanguineous Pakistani family (HPK1) with prelingual sensorineural moderate hearing loss (DFNB32; 608653), who used hearing aids in oral conversation, Imtiaz et al. (2018) identified homozygosity for a splice site mutation (c.839-3C-G, NM_033312.2) in intron 9 of the CDC14A gene. Analysis of leukocyte mRNA from affected and unaffected family members revealed 2 aberrant mRNA transcripts, one that skips exon 10 and another that uses a cryptic exon 10 acceptor splice site, both causing frameshifts predicted to result in premature termination codons (Lys279fs16Ter and Lys279fs10Ter, respectively). The fertility status of 1 of the deaf men was reported as unknown; the second deaf man had been married 11 years with no offspring, and semen analysis showed 16 to 50 million sperm/mL, of which 65 to 75% were immotile and 60% exhibited abnormal morphology. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 32</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDC14A, ARG345TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs549556142,
|
|
|
|
|
|
gnomAD: rs549556142,
|
|
|
|
|
|
ClinVar: RCV000677139, RCV001836860, RCV003727805
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected brothers and a sister from a consanguineous Pakistani family (PKSN10) with prelingual sensorineural moderate hearing loss (DFNB32; 608653), who used hearing aids in oral conversation, Imtiaz et al. (2018) identified homozygosity for a c.1033C-T transition (c.1033C-T, NM_033312.2) in exon 11 of the CDC14A gene, resulting in an arg345-to-ter (R345X) substitution. Both brothers had biologic offspring. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
|
|
</div>
|
|
|
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|
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|
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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">
|
|
Clemente-Blanco, A., Mayan-Santos, M., Schneider, D. A., Machin, F., Jarmuz, A., Tschochner, H., Aragon, L.
|
|
<strong>Cdc14 inhibits transcription by RNA polymerase I during anaphase.</strong>
|
|
Nature 458: 219-222, 2009.
|
|
|
|
|
|
[PubMed: 19158678]
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[Full Text: https://doi.org/10.1038/nature07652]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Delmaghani, S., Aghaie, A., Bouyacoub, Y., El Hachmi, H., Bonnet, C., Riahi, Z., Chardenoux, S., Perfettini, I., Hardelin, J.-P., Houmeida, A., Herbomel, P., Petit, C.
|
|
<strong>Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness.</strong>
|
|
Am. J. Hum. Genet. 98: 1266-1270, 2016.
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|
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|
|
[PubMed: 27259055]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2016.04.015]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Holt, L. J., Krutchinsky, A. N., Morgan, D. O.
|
|
<strong>Positive feedback sharpens the anaphase switch.</strong>
|
|
Nature 454: 353-357, 2008.
|
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|
|
[PubMed: 18552837]
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[Full Text: https://doi.org/10.1038/nature07050]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar-Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T., Kahrizi, K., Najmabadi, H., and 19 others.
|
|
<strong>CDC14A phosphatase is essential for hearing and male fertility in mouse and human.</strong>
|
|
Hum. Molec. Genet. 27: 780-798, 2018.
|
|
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|
|
[PubMed: 29293958]
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[Full Text: https://doi.org/10.1093/hmg/ddx440]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Li, L., Ernsting, B. R., Wishart, M. J., Lohse, D. L., Dixon, J. E.
|
|
<strong>A family of putative tumor suppressors is structurally and functionally conserved in humans and yeast.</strong>
|
|
J. Biol. Chem. 272: 29403-29406, 1997.
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|
|
[PubMed: 9367992]
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|
|
[Full Text: https://doi.org/10.1074/jbc.272.47.29403]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Mailand, N., Lukas, C., Kaiser, B. K., Jackson, P. K., Bartek, J., Lukas, J.
|
|
<strong>Deregulated human Cdc14A phosphatase disrupts centrosome separation and chromosome segregation.</strong>
|
|
Nature Cell Biol. 4: 317-322, 2002. Note: Erratum: Nature Cell Biol. 8: 897 only, 2006.
|
|
|
|
|
|
[PubMed: 11901424]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/ncb777]
|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Masmoudi, S., Tlili, A., Majava, M., Ghorbel, A. M., Chardenoux, S., Lemainque, A., Zina, Z. B., Moala, J., Mannikko, M., Weil, D., Lathrop, M., Ala-Kokko, L., Drira, M., Petit, C., Ayadi, H.
|
|
<strong>Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.</strong>
|
|
Europ. J. Hum. Genet. 11: 185-188, 2003.
|
|
|
|
|
|
[PubMed: 12634867]
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|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200934]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Pereira, G., Schiebel, E.
|
|
<strong>Separase regulates INCENP-Aurora B anaphase spindle function through Cdc14.</strong>
|
|
Science 302: 2120-2124, 2003.
|
|
|
|
|
|
[PubMed: 14605209]
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|
|
|
|
[Full Text: https://doi.org/10.1126/science.1091936]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Wong, A. K. C., Chen, Y., Lian, L., Ha, P. C., Peterson, K., Laity, K., Carillo, A., Emerson, M., Heichman, K., Gupte, J., Tavtigian, S. V., Teng, D. H.-F.
|
|
<strong>Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.</strong>
|
|
Genomics 59: 248-251, 1999.
|
|
|
|
|
|
[PubMed: 10409437]
|
|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1999.5863]
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</p>
|
|
</li>
|
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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|
<div>
|
|
<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>
|
|
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Marla J. F. O'Neill - updated : 08/03/2018<br>Marla J. F. O'Neill - updated : 06/02/2016<br>Matthew B. Gross - updated : 10/12/2012<br>Ada Hamosh - updated : 5/12/2009<br>Ada Hamosh - updated : 8/12/2008<br>Ada Hamosh - updated : 12/30/2003<br>Patricia A. Hartz - updated : 2/5/2003<br>Victor A. McKusick - updated : 11/13/2002
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Rebekah S. Rasooly : 2/9/1999
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alopez : 11/14/2023<br>joanna : 01/28/2022<br>carol : 08/23/2019<br>carol : 08/06/2018<br>carol : 08/03/2018<br>carol : 06/02/2016<br>mgross : 10/12/2012<br>alopez : 5/15/2009<br>terry : 5/12/2009<br>alopez : 8/25/2008<br>alopez : 8/25/2008<br>terry : 8/12/2008<br>alopez : 12/30/2003<br>terry : 12/30/2003<br>mgross : 2/5/2003<br>mgross : 1/28/2003<br>tkritzer : 11/18/2002<br>terry : 11/13/2002<br>alopez : 2/9/1999
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