2623 lines
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Entry
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- *300859 - COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300859</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300859">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div 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=ENSG00000101997;t=ENST00000376227" 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=28952" 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=300859" 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=ENSG00000101997;t=ENST00000376227" 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_014008,XM_005272599,XR_430506" 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_014008" 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=300859" 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/CCDC22" 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/3114816,7661844,12654303,15079717,74735455,119571059,119571060,119571061,158257384,194384612,194390024,221046138,530421441,2462629156,2462629158" 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/O60826" 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=28952" 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=ENSG00000101997;t=ENST00000376227" 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=CCDC22" 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=CCDC22" 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+28952" 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/CCDC22" 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:28952" 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/28952" 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=chrX&hgg_gene=ENST00000376227.4&hgg_start=49235470&hgg_end=49250520&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:28909" 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=300859[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=300859[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/CCDC22/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/ENSG00000101997" 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.gwascentral.org/search?q=CCDC22" 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=CCDC22" 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=CCDC22&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/PA134947763" 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:28909" 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/FBgn0036671.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:1859608" 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/CCDC22#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:1859608" 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/28952/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=28952" 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=WBGene00019959;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-050913-93" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CCDC22&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300859
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CCDC22" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CCDC22</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/X/276?start=-3&limit=10&highlight=276">Xp11.23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:49235470-49250520&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'})">X:49,235,470-49,250,520</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/276?start=-3&limit=10&highlight=276">
|
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Xp11.23
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Ritscher-Schinzel syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300963"> 300963 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300859" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300859" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By searching for genes in a region of chromosome X linked to intellectual disability, <a href="#7" class="mim-tip-reference" title="Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D. <strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong> Molec. Psychiat. 17: 4-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21826058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21826058</a>] [<a href="https://doi.org/10.1038/mp.2011.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21826058">Voineagu et al. (2012)</a> identified CCDC22. They found that CCDC22 was expressed in all adult tissues examined and in fetal liver and brain. Expression was highest in prostate and lowest in skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21826058" 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="#5" class="mim-tip-reference" title="Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G. N., Mao, X., Zaidi, I. W., Hein, M. Y., McDonald, F. J., Lenzner, S., Zecha, A., Ropers, H.-H., Kuss, A. W., McGaughran, J., Gecz, J., Burstein, E. <strong>CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa-B signaling.</strong> J. Clin. Invest. 123: 2244-2256, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23563313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23563313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23563313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI66466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23563313">Starokadomskyy et al. (2013)</a> reported that the deduced 627-amino acid CCDC22 protein has an N-terminal conserved domain and a C-terminal coiled-coil domain that is similar to structural maintenance of chromosomes (SMC) proteins (see SMC1A, <a href="/entry/300040">300040</a>). Database analysis revealed variable CCDC22 expression in human tissues, with highest expression in a number of blood cell lineages, moderate expression in lung, heart, prostate, thyroid, and thymus, and lower expression in other tissues. Quantitative RT-PCR of 8 mouse tissues detected highest expression in lung and lowest expression in muscle. Western blot analysis showed highest expression of mouse Ccdc22 in thymus and pancreas, with little to no expression in kidney, muscle, small bowel, and testis. Fluorescence-tagged CCDC22 was expressed in a punctate perinuclear distribution in transfected HeLa cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23563313" 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 mass spectrometric analysis of proteins that affinity-purified with COMMD1 (<a href="/entry/607238">607238</a>), COMMD9 (<a href="/entry/612299">612299</a>), and COMMD10 (<a href="/entry/616704">616704</a>), <a href="#5" class="mim-tip-reference" title="Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G. N., Mao, X., Zaidi, I. W., Hein, M. Y., McDonald, F. J., Lenzner, S., Zecha, A., Ropers, H.-H., Kuss, A. W., McGaughran, J., Gecz, J., Burstein, E. <strong>CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa-B signaling.</strong> J. Clin. Invest. 123: 2244-2256, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23563313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23563313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23563313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI66466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23563313">Starokadomskyy et al. (2013)</a> identified CCDC22, in addition to other COMM domain proteins. Reciprocal immunoprecipitation and protein pull-down assays revealed that CCDC22 interacted with all 10 COMM domain proteins examined. Silencing of CCDC22 in U2OS cells relocalized COMMD1 from a strong nuclear staining pattern to large perinuclear foci, and relocalized COMMD10 from small perinuclear foci to large perinuclear foci. Domain analysis revealed that the conserved N-terminal domain of CCDC22 bound the COMM domain of COMMD1. CCDC22 and COMM domain proteins were also detected in protein complexes with cullins (see CUL1, <a href="/entry/603134">603134</a>), which function as ligases for ubiquitination of target proteins. Epitope-tagged COMMD8 (<a href="/entry/616656">616656</a>) bound CCDC22, CUL1, and CUL3 (<a href="/entry/603136">603136</a>) in HeLa cells and promoted ubiquitination and degradation of the NF-kappa-B (see <a href="/entry/164011">164011</a>) inhibitor I-kappa-B-alpha (NFKBIA; <a href="/entry/164008">164008</a>). Silencing of COMMD8 (<a href="/entry/616656">616656</a>) or CCDC22 in HEK293 cells reduced TNF (<a href="/entry/191160">191160</a>)-dependent activation of several NF-kappa-B pathway genes. <a href="#5" class="mim-tip-reference" title="Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G. N., Mao, X., Zaidi, I. W., Hein, M. Y., McDonald, F. J., Lenzner, S., Zecha, A., Ropers, H.-H., Kuss, A. W., McGaughran, J., Gecz, J., Burstein, E. <strong>CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa-B signaling.</strong> J. Clin. Invest. 123: 2244-2256, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23563313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23563313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23563313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI66466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23563313">Starokadomskyy et al. (2013)</a> concluded that the CCDC22-COMMD8 complex regulates I-kappa-B turnover and NF-kappa-B activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23563313" 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="Singla, A., Fedoseienko, A., Giridharan, S. S. P., Overlee, B. L., Lopez, A., Jia, D., Song, J., Huff-Hardy, K., Weisman, L., Burstein, E., Billadeau, D. D. <strong>Endosomal PI(3)P regulation by the COMMD/CCDC22/CCC93 (CCC) complex controls membrane protein recycling.</strong> Nature Commun. 10: 4271, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31537807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31537807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31537807[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/s41467-019-12221-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31537807">Singla et al. (2019)</a> demonstrated that the human COMMD/CCDC22/CCDC93 (<a href="/entry/620553">620553</a>) (CCC) and retriever complexes shared VPS35L (<a href="/entry/618981">618981</a>) as a common subunit. The CCC complex, but not retriever, was required to maintain normal endosomal levels of phosphatidylinositol-3-phosphate (PI3P). Depletion of CCC led to elevated PI3P levels, enhanced recruitment and activation of WASH (see <a href="/entry/613632">613632</a>), excess endosomal F-actin, and trapping of internalized receptors. Mechanistically, CCC regulated phosphorylation and endosomal recruitment of the PI3P phosphatase MTMR2 (<a href="/entry/603557">603557</a>). The authors concluded that regulation of PI3P levels by CCC is critical to protein recycling in the endosomal compartment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31537807" 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="Fedoseienko, A., Wijers, M., Wolters, J. C., Dekker, D., Smit, M., Huijkman, N., Kloosterhuis, N., Klug, H., Schepers, A., Willems van Dijk, K., Levels, J. H. M., Billadeau, D. D., Hofker, M. H., van Deursen, J., Westerterp, M., Burstein, E., Kuivenhoven, J. A., van de Sluis, B. <strong>The COMMD family regulates plasma LDL levels and attenuates atherosclerosis through stabilizing the CCC complex in endosomal LDLR trafficking.</strong> Circ. Res. 122: 1648-1660, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29545368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29545368</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.117.312004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29545368">Fedoseienko et al. (2018)</a> showed that liver-specific knockout of COMMD1 (<a href="/entry/607238">607238</a>), COMMD6, or COMMD9 (<a href="/entry/612299">612299</a>) in mice resulted in massive reduction of the protein levels of all 10 COMMDs. This decrease coincided with the destabilization of the CCC complex core (CCDC22, CCDC93, and VPS35L) and resulted in decreased cell surface LDLR (<a href="/entry/606945">606945</a>) and LRP1 (<a href="/entry/107770">107770</a>) and increased plasma LDL cholesterol. <a href="#1" class="mim-tip-reference" title="Fedoseienko, A., Wijers, M., Wolters, J. C., Dekker, D., Smit, M., Huijkman, N., Kloosterhuis, N., Klug, H., Schepers, A., Willems van Dijk, K., Levels, J. H. M., Billadeau, D. D., Hofker, M. H., van Deursen, J., Westerterp, M., Burstein, E., Kuivenhoven, J. A., van de Sluis, B. <strong>The COMMD family regulates plasma LDL levels and attenuates atherosclerosis through stabilizing the CCC complex in endosomal LDLR trafficking.</strong> Circ. Res. 122: 1648-1660, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29545368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29545368</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.117.312004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29545368">Fedoseienko et al. (2018)</a> then knocked out CCDC22 in mouse liver and found that CCDC22 deficiency also destabilized the complete CCC complex and resulted in elevated plasma LDL cholesterol levels. <a href="#1" class="mim-tip-reference" title="Fedoseienko, A., Wijers, M., Wolters, J. C., Dekker, D., Smit, M., Huijkman, N., Kloosterhuis, N., Klug, H., Schepers, A., Willems van Dijk, K., Levels, J. H. M., Billadeau, D. D., Hofker, M. H., van Deursen, J., Westerterp, M., Burstein, E., Kuivenhoven, J. A., van de Sluis, B. <strong>The COMMD family regulates plasma LDL levels and attenuates atherosclerosis through stabilizing the CCC complex in endosomal LDLR trafficking.</strong> Circ. Res. 122: 1648-1660, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29545368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29545368</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.117.312004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29545368">Fedoseienko et al. (2018)</a> concluded that their studies found an essential role for the COMMD proteins in maintaining the CCC complex during endosomal LDLR and LRP1 trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29545368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family (IGOLD #586) with syndromic X-linked intellectual disability consistent with Ritscher-Schinzel syndrome-2 (RTSC2; <a href="/entry/300963">300963</a>), <a href="#7" class="mim-tip-reference" title="Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D. <strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong> Molec. Psychiat. 17: 4-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21826058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21826058</a>] [<a href="https://doi.org/10.1038/mp.2011.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21826058">Voineagu et al. (2012)</a> identified a hemizygous splice site mutation in the CCDC22 gene (<a href="#0001">300859.0001</a>). Patient cells showed a 5-fold decrease in mRNA levels as well as increased levels of abnormally spliced transcripts retaining intron 1. The proband was 1 of 208 patients who underwent X-chromosome resequencing and had previously been part of a large cohort studied by <a href="#6" class="mim-tip-reference" title="Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others. <strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong> Nature Genet. 41: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>] [<a href="https://doi.org/10.1038/ng.367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377476">Tarpey et al. (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21826058+19377476" 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 2 brothers, born of unrelated Austrian parents, with Ritscher-Schinzel syndrome-2, <a href="#3" class="mim-tip-reference" title="Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., Horn, D. <strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.</strong> Europ. J. Hum. Genet. 23: 633-638, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 720 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916641[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/ejhg.2014.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24916641">Kolanczyk et al. (2015)</a> identified a hemizygous missense mutation in the CCDC22 gene (Y557C; <a href="#0002">300859.0002</a>). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24916641" 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">rs863225428 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225428;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=rs863225428" 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=rs863225428" 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=RCV000202354 OR RCV001028073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202354, RCV001028073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202354...</a>
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<p>In affected male members of a family (IGOLD #586) with syndromic X-linked intellectual disability consistent with Ritscher-Schinzel syndrome-2 (RTSC2; <a href="/entry/300963">300963</a>), <a href="#7" class="mim-tip-reference" title="Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D. <strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong> Molec. Psychiat. 17: 4-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21826058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21826058</a>] [<a href="https://doi.org/10.1038/mp.2011.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21826058">Voineagu et al. (2012)</a> identified a hemizygous c.49A-G transition in exon 1 of the CCDC22 gene close to the 5-prime splice site of intron 1. Although the transition was predicted to result in a thr17-to-ala (T17A) substitution, patient cells showed a 5-fold decrease in mRNA levels as well as increased levels of abnormally spliced transcripts retaining intron 1. There was no evidence for nonsense-mediated mRNA decay, and <a href="#7" class="mim-tip-reference" title="Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D. <strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong> Molec. Psychiat. 17: 4-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21826058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21826058</a>] [<a href="https://doi.org/10.1038/mp.2011.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21826058">Voineagu et al. (2012)</a> concluded that the mutation interfered with efficient transcription of CCDC22. The mutation, which was found by examining gene expression profiles of lymphoblast cell lines followed by candidate gene sequencing in patients with X-linked intellectual disability, segregated with the disorder in the family. The patient was 1 of 208 patients who underwent X-chromosome resequencing and had previously been part of a large cohort studied by <a href="#6" class="mim-tip-reference" title="Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others. <strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong> Nature Genet. 41: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>] [<a href="https://doi.org/10.1038/ng.367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377476">Tarpey et al. (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21826058+19377476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 RITSCHER-SCHINZEL SYNDROME 2</strong>
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CCDC22, TYR557CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863225429 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225429;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=rs863225429" 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=rs863225429" 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=RCV000202351 OR RCV001028072" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202351, RCV001028072" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202351...</a>
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<p>In 2 brothers, born of unrelated Austrian parents, with Ritscher-Schinzel syndrome-2 (RTSC2; <a href="/entry/300963">300963</a>), <a href="#3" class="mim-tip-reference" title="Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., Horn, D. <strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.</strong> Europ. J. Hum. Genet. 23: 633-638, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 720 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916641[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/ejhg.2014.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24916641">Kolanczyk et al. (2015)</a> identified a hemizygous c.1670A-G transition (c.1670A-G, NM_014008.4) in exon 15 of the CCDC22 gene, resulting in a tyr557-to-cys (Y557C) substitution at a conserved residue in the C-terminally located coiled-coil domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Variant Server database. The variant was filtered against the dbSNP (build 132) and 1000 Genomes Project databases. Lymphocytes from 1 of the patients showed a 50% decrease in CCDC22 protein levels compared to controls, and there was increased abundance of the WASH1 (<a href="/entry/613632">613632</a>) protein. <a href="#3" class="mim-tip-reference" title="Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., Horn, D. <strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.</strong> Europ. J. Hum. Genet. 23: 633-638, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 720 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916641[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/ejhg.2014.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24916641">Kolanczyk et al. (2015)</a> noted that RTSC1 (<a href="/entry/220210">220210</a>) is caused by mutation in the gene encoding strumpellin (KIAA0196; <a href="/entry/610657">610657</a>), which is part of the WASH complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24916641" 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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Fedoseienko, A., Wijers, M., Wolters, J. C., Dekker, D., Smit, M., Huijkman, N., Kloosterhuis, N., Klug, H., Schepers, A., Willems van Dijk, K., Levels, J. H. M., Billadeau, D. D., Hofker, M. H., van Deursen, J., Westerterp, M., Burstein, E., Kuivenhoven, J. A., van de Sluis, B.
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<strong>The COMMD family regulates plasma LDL levels and attenuates atherosclerosis through stabilizing the CCC complex in endosomal LDLR trafficking.</strong>
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Circ. Res. 122: 1648-1660, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29545368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29545368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29545368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/21/2011.
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Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., Horn, D.
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<strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.</strong>
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Europ. J. Hum. Genet. 23: 633-638, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 720 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916641[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=24916641" 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/ejhg.2014.109" target="_blank">Full Text</a>]
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Singla, A., Fedoseienko, A., Giridharan, S. S. P., Overlee, B. L., Lopez, A., Jia, D., Song, J., Huff-Hardy, K., Weisman, L., Burstein, E., Billadeau, D. D.
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<strong>Endosomal PI(3)P regulation by the COMMD/CCDC22/CCC93 (CCC) complex controls membrane protein recycling.</strong>
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Nature Commun. 10: 4271, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31537807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31537807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31537807[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=31537807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G. N., Mao, X., Zaidi, I. W., Hein, M. Y., McDonald, F. J., Lenzner, S., Zecha, A., Ropers, H.-H., Kuss, A. W., McGaughran, J., Gecz, J., Burstein, E.
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<strong>CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa-B signaling.</strong>
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J. Clin. Invest. 123: 2244-2256, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23563313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23563313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23563313[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=23563313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others.
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<strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong>
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Nature Genet. 41: 535-543, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D.
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<strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong>
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Molec. Psychiat. 17: 4-7, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21826058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21826058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21826058" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/23/2024
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<span class="mim-text-font">
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Bao Lige - updated : 08/11/2020<br>Patricia A. Hartz - updated : 1/8/2016<br>Cassandra L. Kniffin - updated : 11/19/2015
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Patricia A. Hartz : 10/24/2011
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alopez : 06/03/2024
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alopez : 01/23/2024<br>mgross : 10/24/2023<br>ckniffin : 09/18/2023<br>mgross : 08/11/2020<br>carol : 06/23/2016<br>alopez : 1/8/2016<br>carol : 11/24/2015<br>ckniffin : 11/19/2015<br>terry : 7/5/2012<br>mgross : 10/24/2011
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<span class="mim-font">
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<strong>*</strong> 300859
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<h3>
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COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CCDC22</em></strong>
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<strong>
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<em>
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Cytogenetic location: Xp11.23
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Genomic coordinates <span class="small">(GRCh38)</span> : X:49,235,470-49,250,520 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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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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<span class="mim-font">
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Xp11.23
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<span class="mim-font">
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Ritscher-Schinzel syndrome 2
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<span class="mim-font">
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300963
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<span class="mim-font">
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X-linked recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>By searching for genes in a region of chromosome X linked to intellectual disability, Voineagu et al. (2012) identified CCDC22. They found that CCDC22 was expressed in all adult tissues examined and in fetal liver and brain. Expression was highest in prostate and lowest in skeletal muscle. </p><p>Starokadomskyy et al. (2013) reported that the deduced 627-amino acid CCDC22 protein has an N-terminal conserved domain and a C-terminal coiled-coil domain that is similar to structural maintenance of chromosomes (SMC) proteins (see SMC1A, 300040). Database analysis revealed variable CCDC22 expression in human tissues, with highest expression in a number of blood cell lineages, moderate expression in lung, heart, prostate, thyroid, and thymus, and lower expression in other tissues. Quantitative RT-PCR of 8 mouse tissues detected highest expression in lung and lowest expression in muscle. Western blot analysis showed highest expression of mouse Ccdc22 in thymus and pancreas, with little to no expression in kidney, muscle, small bowel, and testis. Fluorescence-tagged CCDC22 was expressed in a punctate perinuclear distribution in transfected HeLa cells. </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>
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<span class="mim-text-font">
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<p>By mass spectrometric analysis of proteins that affinity-purified with COMMD1 (607238), COMMD9 (612299), and COMMD10 (616704), Starokadomskyy et al. (2013) identified CCDC22, in addition to other COMM domain proteins. Reciprocal immunoprecipitation and protein pull-down assays revealed that CCDC22 interacted with all 10 COMM domain proteins examined. Silencing of CCDC22 in U2OS cells relocalized COMMD1 from a strong nuclear staining pattern to large perinuclear foci, and relocalized COMMD10 from small perinuclear foci to large perinuclear foci. Domain analysis revealed that the conserved N-terminal domain of CCDC22 bound the COMM domain of COMMD1. CCDC22 and COMM domain proteins were also detected in protein complexes with cullins (see CUL1, 603134), which function as ligases for ubiquitination of target proteins. Epitope-tagged COMMD8 (616656) bound CCDC22, CUL1, and CUL3 (603136) in HeLa cells and promoted ubiquitination and degradation of the NF-kappa-B (see 164011) inhibitor I-kappa-B-alpha (NFKBIA; 164008). Silencing of COMMD8 (616656) or CCDC22 in HEK293 cells reduced TNF (191160)-dependent activation of several NF-kappa-B pathway genes. Starokadomskyy et al. (2013) concluded that the CCDC22-COMMD8 complex regulates I-kappa-B turnover and NF-kappa-B activation. </p><p>Singla et al. (2019) demonstrated that the human COMMD/CCDC22/CCDC93 (620553) (CCC) and retriever complexes shared VPS35L (618981) as a common subunit. The CCC complex, but not retriever, was required to maintain normal endosomal levels of phosphatidylinositol-3-phosphate (PI3P). Depletion of CCC led to elevated PI3P levels, enhanced recruitment and activation of WASH (see 613632), excess endosomal F-actin, and trapping of internalized receptors. Mechanistically, CCC regulated phosphorylation and endosomal recruitment of the PI3P phosphatase MTMR2 (603557). The authors concluded that regulation of PI3P levels by CCC is critical to protein recycling in the endosomal compartment. </p><p>Fedoseienko et al. (2018) showed that liver-specific knockout of COMMD1 (607238), COMMD6, or COMMD9 (612299) in mice resulted in massive reduction of the protein levels of all 10 COMMDs. This decrease coincided with the destabilization of the CCC complex core (CCDC22, CCDC93, and VPS35L) and resulted in decreased cell surface LDLR (606945) and LRP1 (107770) and increased plasma LDL cholesterol. Fedoseienko et al. (2018) then knocked out CCDC22 in mouse liver and found that CCDC22 deficiency also destabilized the complete CCC complex and resulted in elevated plasma LDL cholesterol levels. Fedoseienko et al. (2018) concluded that their studies found an essential role for the COMMD proteins in maintaining the CCC complex during endosomal LDLR and LRP1 trafficking. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2011) mapped the CCDC22 gene to chromosome Xp11.23 based on an alignment of the CCDC22 sequence (GenBank AJ005890) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a family (IGOLD #586) with syndromic X-linked intellectual disability consistent with Ritscher-Schinzel syndrome-2 (RTSC2; 300963), Voineagu et al. (2012) identified a hemizygous splice site mutation in the CCDC22 gene (300859.0001). Patient cells showed a 5-fold decrease in mRNA levels as well as increased levels of abnormally spliced transcripts retaining intron 1. The proband was 1 of 208 patients who underwent X-chromosome resequencing and had previously been part of a large cohort studied by Tarpey et al. (2009). </p><p>In 2 brothers, born of unrelated Austrian parents, with Ritscher-Schinzel syndrome-2, Kolanczyk et al. (2015) identified a hemizygous missense mutation in the CCDC22 gene (Y557C; 300859.0002). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. </p>
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</span>
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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>2 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 RITSCHER-SCHINZEL SYNDROME 2</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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CCDC22, 49A-G
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<br />
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SNP: rs863225428,
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ClinVar: RCV000202354, RCV001028073
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<span class="mim-text-font">
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<p>In affected male members of a family (IGOLD #586) with syndromic X-linked intellectual disability consistent with Ritscher-Schinzel syndrome-2 (RTSC2; 300963), Voineagu et al. (2012) identified a hemizygous c.49A-G transition in exon 1 of the CCDC22 gene close to the 5-prime splice site of intron 1. Although the transition was predicted to result in a thr17-to-ala (T17A) substitution, patient cells showed a 5-fold decrease in mRNA levels as well as increased levels of abnormally spliced transcripts retaining intron 1. There was no evidence for nonsense-mediated mRNA decay, and Voineagu et al. (2012) concluded that the mutation interfered with efficient transcription of CCDC22. The mutation, which was found by examining gene expression profiles of lymphoblast cell lines followed by candidate gene sequencing in patients with X-linked intellectual disability, segregated with the disorder in the family. The patient was 1 of 208 patients who underwent X-chromosome resequencing and had previously been part of a large cohort studied by Tarpey et al. (2009). </p>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 RITSCHER-SCHINZEL SYNDROME 2</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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CCDC22, TYR557CYS
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<br />
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SNP: rs863225429,
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ClinVar: RCV000202351, RCV001028072
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<div>
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<span class="mim-text-font">
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<p>In 2 brothers, born of unrelated Austrian parents, with Ritscher-Schinzel syndrome-2 (RTSC2; 300963), Kolanczyk et al. (2015) identified a hemizygous c.1670A-G transition (c.1670A-G, NM_014008.4) in exon 15 of the CCDC22 gene, resulting in a tyr557-to-cys (Y557C) substitution at a conserved residue in the C-terminally located coiled-coil domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Variant Server database. The variant was filtered against the dbSNP (build 132) and 1000 Genomes Project databases. Lymphocytes from 1 of the patients showed a 50% decrease in CCDC22 protein levels compared to controls, and there was increased abundance of the WASH1 (613632) protein. Kolanczyk et al. (2015) noted that RTSC1 (220210) is caused by mutation in the gene encoding strumpellin (KIAA0196; 610657), which is part of the WASH complex. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Fedoseienko, A., Wijers, M., Wolters, J. C., Dekker, D., Smit, M., Huijkman, N., Kloosterhuis, N., Klug, H., Schepers, A., Willems van Dijk, K., Levels, J. H. M., Billadeau, D. D., Hofker, M. H., van Deursen, J., Westerterp, M., Burstein, E., Kuivenhoven, J. A., van de Sluis, B.
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<strong>The COMMD family regulates plasma LDL levels and attenuates atherosclerosis through stabilizing the CCC complex in endosomal LDLR trafficking.</strong>
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Circ. Res. 122: 1648-1660, 2018.
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[PubMed: 29545368]
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[Full Text: https://doi.org/10.1161/CIRCRESAHA.117.312004]
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/21/2011.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., Horn, D.
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<strong>Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.</strong>
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Europ. J. Hum. Genet. 23: 633-638, 2015. Note: Erratum: Europ. J. Hum. Genet. 23: 720 only, 2015.
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[PubMed: 24916641]
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[Full Text: https://doi.org/10.1038/ejhg.2014.109]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Singla, A., Fedoseienko, A., Giridharan, S. S. P., Overlee, B. L., Lopez, A., Jia, D., Song, J., Huff-Hardy, K., Weisman, L., Burstein, E., Billadeau, D. D.
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<strong>Endosomal PI(3)P regulation by the COMMD/CCDC22/CCC93 (CCC) complex controls membrane protein recycling.</strong>
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Nature Commun. 10: 4271, 2019. Note: Electronic Article.
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[PubMed: 31537807]
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[Full Text: https://doi.org/10.1038/s41467-019-12221-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Starokadomskyy, P., Gluck, N., Li, H., Chen, B., Wallis, M., Maine, G. N., Mao, X., Zaidi, I. W., Hein, M. Y., McDonald, F. J., Lenzner, S., Zecha, A., Ropers, H.-H., Kuss, A. W., McGaughran, J., Gecz, J., Burstein, E.
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<strong>CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappa-B signaling.</strong>
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J. Clin. Invest. 123: 2244-2256, 2013.
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[PubMed: 23563313]
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[Full Text: https://doi.org/10.1172/JCI66466]
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Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others.
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<strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong>
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Nature Genet. 41: 535-543, 2009.
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[PubMed: 19377476]
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[Full Text: https://doi.org/10.1038/ng.367]
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Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J., Geschwind, D.
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<strong>CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (Letter)</strong>
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Molec. Psychiat. 17: 4-7, 2012.
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[PubMed: 21826058]
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[Full Text: https://doi.org/10.1038/mp.2011.95]
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Ada Hamosh - updated : 01/23/2024<br>Bao Lige - updated : 08/11/2020<br>Patricia A. Hartz - updated : 1/8/2016<br>Cassandra L. Kniffin - updated : 11/19/2015
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