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Entry
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- *616031 - COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141
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- OMIM
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<p>
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<span class="h4">*616031</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 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=ENSG00000163492;t=ENST00000443758" 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=285025" 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=616031" 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=ENSG00000163492;t=ENST00000443758" 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_001316745,NM_173648,XM_011510991,XM_011510992,XM_047443983,XM_047443984,XM_047443985,XM_047443986,XM_047443987,XM_047443988,XM_047443989,XM_047443990,XM_047443991,XM_047443992,XM_047443993,XM_047443994,XM_047443995,XM_047443996,XM_047443997,XM_047443998" 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_173648" 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=616031" 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://www.proteinatlas.org/search/CCDC141" 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/21756397,34526470,62630097,83318446,92096780,119631416,119631417,299829223,767917659,767917661,941355821,2217327105,2217327107,2217327109,2217327111,2217327114,2217327116,2217327118,2217327120,2217327122,2217327124,2217327126,2217327128,2217327130,2217327132,2217327134,2217327136,2462572077,2462572079,2462572081,2462572083,2462572085,2462572087,2462572089,2462572091,2462572093,2462572095,2462572097,2462572099,2462572101,2462572103,2462572105,2462572107,2462572109,2619680061" 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/Q6ZP82" 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 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=285025" 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=ENSG00000163492;t=ENST00000443758" 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=CCDC141" 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=CCDC141" 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+285025" 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/CCDC141" 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:285025" 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/285025" 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=chr2&hgg_gene=ENST00000443758.7&hgg_start=178814978&hgg_end=179050137&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616031[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 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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<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=616031[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CCDC141/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000163492" 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=CCDC141" 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=CCDC141" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CCDC141&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/PA162381449" 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 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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</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:26821" 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/FBgn0052311.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:1919735" 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/CCDC141#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:1919735" 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/285025/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=285025" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081104-472" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CCDC141&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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div 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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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616031
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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COILED-COIL PROTEIN ASSOCIATED WITH MYOSIN II AND DISC1; CAMDI
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CCDC141" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CCDC141</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/824?start=-3&limit=10&highlight=824">2q31.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:178814978-179050137&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'})">2:178,814,978-179,050,137</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Based on experiments in mice, CCDC141 is predicted to play a role in centrosome positioning and movement during radial neuronal migration in developing nervous system (<a href="#1" class="mim-tip-reference" title="Fukuda, T., Sugita, S., Inatome, R., Yanagi, S. <strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong> J. Biol. Chem. 285: 40554-40561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.179481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956536">Fukuda et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956536" 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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</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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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Fukuda, T., Sugita, S., Inatome, R., Yanagi, S. <strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong> J. Biol. Chem. 285: 40554-40561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.179481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956536">Fukuda et al. (2010)</a> cloned mouse Ccdc141, which they called Camdi. The deduced 1,451-amino acid protein has N-terminal spectrin (see <a href="/entry/182860">182860</a>)-like repeats, a central coiled-coil domain, and I-set domains near the C terminus. Western blot analysis detected strong Camdi expression in embryonic day-16 mouse brain, but little to no expression in adult brain or 9 other adult mouse tissues examined. In situ hybridization detected Camdi expression in discrete cell layers of adult mouse cerebrum, hippocampus, and cerebellum, and in embryonic mouse eye. Database analysis detected orthologs of Camdi in humans and several vertebrates, but not in lower organisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956536" 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="Hutchins, B. I., Kotan, L. D., Taylor-Burds, C., Ozkan, Y., Cheng, P. J., Gurbuz, F., Tiong, J. D. R., Mengen, E., Yuksel, B., Topaloglu, A. K., Wray, S. <strong>CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration.</strong> Endocrinology 157: 1956-1966, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27014940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27014940</a>] [<a href="https://doi.org/10.1210/en.2015-1846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27014940">Hutchins et al. (2016)</a> analyzed Ccdc141 staining in mouse embryos and observed clear expression in migrating GnRH (<a href="/entry/152760">152760</a>) neurons. Robust Ccdc141 staining was also detected in the developing cortex as well as in cells and sensory axons of the peripheral nervous system such as the trigeminal and dorsal root ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27014940" 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="#1" class="mim-tip-reference" title="Fukuda, T., Sugita, S., Inatome, R., Yanagi, S. <strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong> J. Biol. Chem. 285: 40554-40561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.179481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956536">Fukuda et al. (2010)</a> reported that the CCDC141 gene maps to chromosome 2q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956536" 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>During late embryonic development in mouse, a massive number of cortical neurons undergo radial migration from the ventricular zone/subventricular zone through the intermediate zone toward the cortical plate. This directed migration is regulated by polarized movement of centrosomes toward the leading edge, often far in advance of nuclei, and requires the centrosomal protein Disc1 (<a href="/entry/605210">605210</a>) and phosphorylatable myosin light chain (MLC; see <a href="/entry/613993">613993</a>). By yeast 2-hybrid analysis, <a href="#1" class="mim-tip-reference" title="Fukuda, T., Sugita, S., Inatome, R., Yanagi, S. <strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong> J. Biol. Chem. 285: 40554-40561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.179481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956536">Fukuda et al. (2010)</a> found that mouse Camdi interacted with Disc1 and Mlc. Camdi and Disc1 colocalized to centrosomes, and Disc1 induced Camdi translocation to the centrosome. Disc1 interacted with Mlc in a Camdi-dependent manner, and coexpression of Camdi with Disc1 induced accumulation of phosphorylated Mlc near centrosomes. In utero knockdown of Camdi via RNA interference in embryonic mice resulted in abnormal cortical neuronal migration, leading to postnatal accumulation of neurons in the intermediate zone and reduced numbers of neurons at the cortical plate. Microscopic analysis of Camdi-knockdown neurons revealed disordered centrosomes and leading processes showing random orientation. <a href="#1" class="mim-tip-reference" title="Fukuda, T., Sugita, S., Inatome, R., Yanagi, S. <strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong> J. Biol. Chem. 285: 40554-40561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.179481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956536">Fukuda et al. (2010)</a> concluded that CAMDI controls cortical neuronal migration, in part, through regulation of centrosome positioning in concert with DISC1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956536" 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 live imaging studies in mouse nasal explants, <a href="#2" class="mim-tip-reference" title="Hutchins, B. I., Kotan, L. D., Taylor-Burds, C., Ozkan, Y., Cheng, P. J., Gurbuz, F., Tiong, J. D. R., Mengen, E., Yuksel, B., Topaloglu, A. K., Wray, S. <strong>CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration.</strong> Endocrinology 157: 1956-1966, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27014940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27014940</a>] [<a href="https://doi.org/10.1210/en.2015-1846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27014940">Hutchins et al. (2016)</a> showed that GnRH neurons treated with Ccdc141-targeting siRNA had a 25% reduction in both linear and total migration rates compared to controls. Explants fixed at 5 divisions demonstrated that GnRH neurons in Ccdc141-knockdown explants did not migrate as far from the main tissue mass as in controls; however, olfactory axon growth was robust in control and Ccdc141 knockdown explants. GnRH neurons were closely apposed to olfactory exons in both the knockdown and control group, indicating that adhesion was not impaired by Ccdc141 knockdown and suggesting that defects in motility underlie the migration defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27014940" 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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In 2 affected sibs from a consanguineous Kurdish family with anosmic hypogonadotropic hypogonadism (HH22; <a href="/entry/616030">616030</a>), who were homozygous for a missense mutation in the FEZF1 gene (<a href="/entry/613301#0001">613301.0001</a>), <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> also detected homozygosity for a nonsense mutation (R724X) in CCDC141. They noted that the CCDC141 gene product had been implicated in cortical neuronal migration and stated that this mutation might cause additional detrimental effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" 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="Turan, I., Hutchins, I., Hacihamdioglu, B., Kotan, L. D., Gurbuz, F., Ulubay, A., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>CCDC141 mutations in idiopathic hypogonadotropic hypogonadism.</strong> J. Clin. Endocr. Metab. 102: 1816-1825, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28324054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28324054</a>] [<a href="https://doi.org/10.1210/jc.2016-3391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28324054">Turan et al. (2017)</a> restudied the family originally reported by <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> (family 1) and described 3 new families in which 6 members had hypogonadotropic hypogonadism with a normal sense of smell. In family 2, a mother and son were compound heterozygous for missense mutations in CCDC141, and both also carried a heterozygous missense mutation in the DMXL2 gene (<a href="/entry/612186">612186</a>). In family 3, 2 affected and 2 unaffected family members were heterozygous for a missense mutation in CCDC141, and heterozygous missense mutations in 3 other genes (NR5A2, <a href="/entry/604453">604453</a>; FSHB, <a href="/entry/136530">136530</a>; IGSF10, <a href="/entry/617351">617351</a>) were also detected in various combinations in both affected and unaffected family members. In family 4, an affected daughter inherited a heterozygous missense mutation in CCDC141 from her unaffected father. Clinical reversibility appeared to have occurred in 2 affected individuals from family 2 and 1 from family 3. <a href="#4" class="mim-tip-reference" title="Turan, I., Hutchins, I., Hacihamdioglu, B., Kotan, L. D., Gurbuz, F., Ulubay, A., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>CCDC141 mutations in idiopathic hypogonadotropic hypogonadism.</strong> J. Clin. Endocr. Metab. 102: 1816-1825, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28324054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28324054</a>] [<a href="https://doi.org/10.1210/jc.2016-3391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28324054">Turan et al. (2017)</a> stated that these families demonstrated complex, discordant genotype-phenotype relationships that were challenging to explain in terms of traditional mendelian inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25192046+28324054" 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>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong>
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J. Biol. Chem. 285: 40554-40561, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20956536[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=20956536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hutchins, B. I., Kotan, L. D., Taylor-Burds, C., Ozkan, Y., Cheng, P. J., Gurbuz, F., Tiong, J. D. R., Mengen, E., Yuksel, B., Topaloglu, A. K., Wray, S.
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<strong>CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration.</strong>
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Endocrinology 157: 1956-1966, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27014940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27014940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27014940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
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<strong>Mutations in FEZF1 cause Kallmann syndrome.</strong>
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Am. J. Hum. Genet. 95: 326-331, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank">Full Text</a>]
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Turan, I., Hutchins, I., Hacihamdioglu, B., Kotan, L. D., Gurbuz, F., Ulubay, A., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
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<strong>CCDC141 mutations in idiopathic hypogonadotropic hypogonadism.</strong>
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J. Clin. Endocr. Metab. 102: 1816-1825, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28324054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28324054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28324054" 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/10.1210/jc.2016-3391" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 01/16/2018
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Patricia A. Hartz : 9/24/2014
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carol : 01/16/2018
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mgross : 09/25/2014<br>mcolton : 9/24/2014
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<strong>*</strong> 616031
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COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141
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COILED-COIL PROTEIN ASSOCIATED WITH MYOSIN II AND DISC1; CAMDI
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<strong><em>HGNC Approved Gene Symbol: CCDC141</em></strong>
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Cytogenetic location: 2q31.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:178,814,978-179,050,137 </span>
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<p>Based on experiments in mice, CCDC141 is predicted to play a role in centrosome positioning and movement during radial neuronal migration in developing nervous system (Fukuda et al., 2010). </p>
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<strong>Cloning and Expression</strong>
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<p>Fukuda et al. (2010) cloned mouse Ccdc141, which they called Camdi. The deduced 1,451-amino acid protein has N-terminal spectrin (see 182860)-like repeats, a central coiled-coil domain, and I-set domains near the C terminus. Western blot analysis detected strong Camdi expression in embryonic day-16 mouse brain, but little to no expression in adult brain or 9 other adult mouse tissues examined. In situ hybridization detected Camdi expression in discrete cell layers of adult mouse cerebrum, hippocampus, and cerebellum, and in embryonic mouse eye. Database analysis detected orthologs of Camdi in humans and several vertebrates, but not in lower organisms. </p><p>Hutchins et al. (2016) analyzed Ccdc141 staining in mouse embryos and observed clear expression in migrating GnRH (152760) neurons. Robust Ccdc141 staining was also detected in the developing cortex as well as in cells and sensory axons of the peripheral nervous system such as the trigeminal and dorsal root ganglia. </p>
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<strong>Mapping</strong>
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<p>Fukuda et al. (2010) reported that the CCDC141 gene maps to chromosome 2q31. </p>
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<strong>Gene Function</strong>
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<p>During late embryonic development in mouse, a massive number of cortical neurons undergo radial migration from the ventricular zone/subventricular zone through the intermediate zone toward the cortical plate. This directed migration is regulated by polarized movement of centrosomes toward the leading edge, often far in advance of nuclei, and requires the centrosomal protein Disc1 (605210) and phosphorylatable myosin light chain (MLC; see 613993). By yeast 2-hybrid analysis, Fukuda et al. (2010) found that mouse Camdi interacted with Disc1 and Mlc. Camdi and Disc1 colocalized to centrosomes, and Disc1 induced Camdi translocation to the centrosome. Disc1 interacted with Mlc in a Camdi-dependent manner, and coexpression of Camdi with Disc1 induced accumulation of phosphorylated Mlc near centrosomes. In utero knockdown of Camdi via RNA interference in embryonic mice resulted in abnormal cortical neuronal migration, leading to postnatal accumulation of neurons in the intermediate zone and reduced numbers of neurons at the cortical plate. Microscopic analysis of Camdi-knockdown neurons revealed disordered centrosomes and leading processes showing random orientation. Fukuda et al. (2010) concluded that CAMDI controls cortical neuronal migration, in part, through regulation of centrosome positioning in concert with DISC1. </p><p>By live imaging studies in mouse nasal explants, Hutchins et al. (2016) showed that GnRH neurons treated with Ccdc141-targeting siRNA had a 25% reduction in both linear and total migration rates compared to controls. Explants fixed at 5 divisions demonstrated that GnRH neurons in Ccdc141-knockdown explants did not migrate as far from the main tissue mass as in controls; however, olfactory axon growth was robust in control and Ccdc141 knockdown explants. GnRH neurons were closely apposed to olfactory exons in both the knockdown and control group, indicating that adhesion was not impaired by Ccdc141 knockdown and suggesting that defects in motility underlie the migration defects. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In 2 affected sibs from a consanguineous Kurdish family with anosmic hypogonadotropic hypogonadism (HH22; 616030), who were homozygous for a missense mutation in the FEZF1 gene (613301.0001), Kotan et al. (2014) also detected homozygosity for a nonsense mutation (R724X) in CCDC141. They noted that the CCDC141 gene product had been implicated in cortical neuronal migration and stated that this mutation might cause additional detrimental effects. </p><p>Turan et al. (2017) restudied the family originally reported by Kotan et al. (2014) (family 1) and described 3 new families in which 6 members had hypogonadotropic hypogonadism with a normal sense of smell. In family 2, a mother and son were compound heterozygous for missense mutations in CCDC141, and both also carried a heterozygous missense mutation in the DMXL2 gene (612186). In family 3, 2 affected and 2 unaffected family members were heterozygous for a missense mutation in CCDC141, and heterozygous missense mutations in 3 other genes (NR5A2, 604453; FSHB, 136530; IGSF10, 617351) were also detected in various combinations in both affected and unaffected family members. In family 4, an affected daughter inherited a heterozygous missense mutation in CCDC141 from her unaffected father. Clinical reversibility appeared to have occurred in 2 affected individuals from family 2 and 1 from family 3. Turan et al. (2017) stated that these families demonstrated complex, discordant genotype-phenotype relationships that were challenging to explain in terms of traditional mendelian inheritance. </p>
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<strong>REFERENCES</strong>
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Fukuda, T., Sugita, S., Inatome, R., Yanagi, S.
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<strong>CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.</strong>
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J. Biol. Chem. 285: 40554-40561, 2010.
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[PubMed: 20956536]
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[Full Text: https://doi.org/10.1074/jbc.M110.179481]
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Hutchins, B. I., Kotan, L. D., Taylor-Burds, C., Ozkan, Y., Cheng, P. J., Gurbuz, F., Tiong, J. D. R., Mengen, E., Yuksel, B., Topaloglu, A. K., Wray, S.
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<strong>CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration.</strong>
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Endocrinology 157: 1956-1966, 2016.
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[PubMed: 27014940]
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[Full Text: https://doi.org/10.1210/en.2015-1846]
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Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
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<strong>Mutations in FEZF1 cause Kallmann syndrome.</strong>
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Am. J. Hum. Genet. 95: 326-331, 2014.
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[PubMed: 25192046]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.08.006]
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Turan, I., Hutchins, I., Hacihamdioglu, B., Kotan, L. D., Gurbuz, F., Ulubay, A., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
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<strong>CCDC141 mutations in idiopathic hypogonadotropic hypogonadism.</strong>
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J. Clin. Endocr. Metab. 102: 1816-1825, 2017.
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[PubMed: 28324054]
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[Full Text: https://doi.org/10.1210/jc.2016-3391]
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Marla J. F. O'Neill - updated : 01/16/2018
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Patricia A. Hartz : 9/24/2014
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carol : 01/16/2018<br>mgross : 09/25/2014<br>mcolton : 9/24/2014
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OMIM Donation:
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Dear OMIM User,
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<p>
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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