2960 lines
199 KiB
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2960 lines
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- *605564 - CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2
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- OMIM
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<p>
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<span class="h4">*605564</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605564">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div 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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<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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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000136425;t=ENST00000258930" 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=10518" 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=605564" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000136425;t=ENST00000258930" 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_001271888,NM_001271889,NM_001301224,NM_006383,NR_125435,XM_005254126,XM_011521161,XM_047432110" 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_006383" 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=605564" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05713&isoform_id=05713_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CIB2" 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/3721663,5453708,12230235,28704056,54696786,116283777,119619589,119619590,119619591,119619592,194375532,428980593,428980688,530405317,669033270,767983130,2217299976,2462542586,2462542588,2462542590" 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/O75838" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=10518" 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=ENSG00000136425;t=ENST00000258930" 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=CIB2" 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=CIB2" 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+10518" 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/CIB2" 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:10518" 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/10518" 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=chr15&hgg_gene=ENST00000258930.8&hgg_start=78104606&hgg_end=78131535&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:24579" 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=605564[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=605564[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/CIB2/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/ENSG00000136425" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CIB2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CIB2" 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=CIB2" 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=CIB2&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/PA134927274" 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:24579" 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/FBgn0034558.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:1929293" 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/CIB2#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:1929293" 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/10518/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=10518" 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=WBGene00009260;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1663" 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=CIB2&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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605564
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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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CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DNA-DEPENDENT PROTEIN KINASE-INTERACTING PROTEIN 2<br />
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KINASE-INTERACTING PROTEIN 2; KIP2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<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=CIB2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CIB2</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/15/421?start=-3&limit=10&highlight=421">15q25.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:78104606-78131535&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'})">15:78,104,606-78,131,535</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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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=609439,614869" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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</span>
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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="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/15/421?start=-3&limit=10&highlight=421">
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15q25.1
|
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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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Deafness, autosomal recessive 48
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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/609439"> 609439 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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<tr>
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<td>
|
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<span class="mim-font">
|
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Usher syndrome, type IJ
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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/614869"> 614869 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605564" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The CIB2 gene encodes a protein belonging to a family of calcium- and integrin-binding proteins containing 3 or 4 EF-hand domains that change conformation upon binding of calcium and presumably mediate intracellular calcium signaling. CIB2 has conserved roles in calcium homeostasis (summary by <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" 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>DNA-dependent protein kinases (DNA-PK) play a role in the repair of double-strand DNA breaks and in the process of V(D)J recombination during lymphoid development. By EST database searching for sequences homologous to the DNA-PK gene KIP/CIB (<a href="/entry/602293">602293</a>) and 5-prime RACE, <a href="#3" class="mim-tip-reference" title="Seki, N., Hattori, A., Hayashi, A., Kozuma, S., Ohira, M., Hori, T., Saito, T. <strong>Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.</strong> Biochim. Biophys. Acta 1444: 143-147, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931475</a>] [<a href="https://doi.org/10.1016/s0167-4781(98)00253-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931475">Seki et al. (1999)</a> isolated a full-length cDNA, which they designated KIP2, from a human fetal brain cDNA library. KIP2 encodes a deduced 187-amino acid protein with a predicted molecular mass of 22 kD. The KIP2 protein shares 46%, 39%, and 30% sequence identity with the calcium-binding proteins KIP/CIB (<a href="/entry/602293">602293</a>), calcineurin B (<a href="/entry/601302">601302</a>), and calmodulin (<a href="/entry/114180">114180</a>), respectively. Sequence analysis of KIP2 revealed 2 EF-hand motifs and a helix-loop-helix motif involved in coordinating the calcium ion, indicating that KIP2 may also bind calcium. RT-PCR analysis indicated that KIP2 is ubiquitously expressed in various human tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> found that CIB2 was widely expressed in human and adult and embryonic mouse tissues, including in the inner ear and retina. There was a 57-fold enrichment of Cib2 mRNA in mouse cochlear hair cells at postnatal day 7 compared to supporting cells. Cib2 immunoreactivity was first observed at P2 in the organ of Corti and vestibular organs. In adult mouse, Cib2 was observed in the cytoplasm of supporting cells and was concentrated toward the tips of stereocilia of the inner and outer hair cells and vestibular hair cells. Its localization there may reflect involvement in calcium signaling that regulates mechanoelectrical transduction. In the mouse retina, Cib2 was present in inner and outer segments of photoreceptor cells and in the retinal pigmented epithelium. There was also immunoreactivity in the inner and outer plexiform layers and in ganglion cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" 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>The CIB2 gene contains 6 exons encoding 3 different isoforms (summary by <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a radiation hybrid panel and FISH analyses, <a href="#3" class="mim-tip-reference" title="Seki, N., Hattori, A., Hayashi, A., Kozuma, S., Ohira, M., Hori, T., Saito, T. <strong>Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.</strong> Biochim. Biophys. Acta 1444: 143-147, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931475</a>] [<a href="https://doi.org/10.1016/s0167-4781(98)00253-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931475">Seki et al. (1999)</a> localized the KIP2 gene to chromosome 15q24. Since the KIP/CIB gene maps to 15q25.3-q26.1, the authors suggested that KIP2 and CIB are likely 2 isologs derived from an intrachromosomal gene duplication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931475" 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 COS-7 cells, <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> found that expression of wildtype CIB2 caused a 40% decrease in ATP-induced calcium release compared to cells transfected with empty vector, suggesting that CIB2 has an inhibitory effect on calcium responses. CIB2 interacted with and multimerized with whirlin (WHRN; <a href="/entry/607928">607928</a>) and with myosin VIIa (MYO7A; <a href="/entry/276903">276903</a>), 2 proteins implicated in Usher syndrome (see, e.g., <a href="/entry/276900">276900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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In affected members of 54 Pakistani families with autosomal recessive deafness-48 (DFNB48; <a href="/entry/609439">609439</a>), <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous mutation in the CIB2 gene (F91S; <a href="#0001">605564.0001</a>). Two additional homozygous CIB2 mutations were found in other families with DFNB48 (C99W, <a href="#0002">605564.0002</a> and I123T, <a href="#0003">605564.0003</a>). <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> estimated that CIB2 mutations may account for up to 7.25% of Pakistani families with autosomal recessive deafness. Transfection of the F91S and C99W mutations in COS-7 cells decreased or abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype, whereas transfection of the I123T mutation increased the ability of CIB2 to decrease calcium release compared to wildtype. These findings suggested that the mutations had an effect on CIB2 calcium-binding or buffering activity. Studies in zebrafish and Drosophila (see ANIMAL MODEL) indicated that Cib2 is important for the function and proper development of hair cells in the ear and photoreceptor cells in the eye. Overall, the results indicated that loss of Cib2 results in defects in calcium regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" 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><strong><em>Usher Syndrome, Type IJ</em></strong></p><p>
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In affected members of a large consanguineous Turkish family with Usher syndrome type IJ (USH1J; <a href="/entry/614869">614869</a>) originally reported by <a href="#1" class="mim-tip-reference" title="Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B. <strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong> Clin. Genet. 75: 86-91, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505454</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505454[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/10.1111/j.1399-0004.2008.01038.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505454">Ahmed et al. (2009)</a> as family PKDF117, <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous mutation in the CIB2 gene (E64D; <a href="#0004">605564.0004</a>). Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18505454+23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> found that knockdown of Cib2 in zebrafish resulted in a mutant phenotype, including microphthalmia, curled tail, hypopigmentation, and edematous heart. Mutant zebrafish had a marked decrease in the number and function of mechanosensory hair cells, did not respond to acoustic stimuli, and were unable to remain upright while swimming. Knockdown of a Drosophila Cib2-related gene decreased photoresponse amplitude and impaired responses to flicker stimuli at high frequencies. These flies showed photoreceptor degeneration when raised under constant light, suggesting that Cib2 is required for proper phototransduction and prevention of light-dependent retinal degeneration. The phenotypes indicated that loss of Cib2 resulting in defects in calcium regulation can contribute to mechanotransduction defects and defects in photoreceptor maintenance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" 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>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605564[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 48</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515411 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515411;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397515411?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515411" 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=rs397515411" 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=RCV000032887 OR RCV001291223 OR RCV002496493" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032887, RCV001291223, RCV002496493" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032887...</a>
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<p>In affected members of 54 Pakistani families with autosomal recessive deafness-48 (DFNB48; <a href="/entry/609439">609439</a>), <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous 272T-C transition in the CIB2 gene, resulting in a phe91-to-ser (F91S) substitution at a highly conserved residue in the first EF-hand binding domain. Haplotype analysis was consistent with a founder effect. The F91S mutation was found in 1 of 1,068 Pakistani control chromosomes, but not in several large exome databases. Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" 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 DEAFNESS, AUTOSOMAL RECESSIVE 48</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs370965183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs370965183;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs370965183?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs370965183" 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=rs370965183" 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=RCV000032888 OR RCV001291224" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032888, RCV001291224" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032888...</a>
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<p>In affected members of 2 Pakistani families with DFNB48 (<a href="/entry/609439">609439</a>), <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous 297C-G transversion in the CIB2 gene, resulting in a cys99-to-trp (C99W) substitution at a highly conserved residue. Haplotype analysis was consistent with a founder effect. The C99W mutation was found in 5 of 1,068 Pakistani control chromosomes, but not in several large exome databases. Transfection of the mutation into COS-7 cells abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 48</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515412 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515412;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=rs397515412" 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=rs397515412" 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=RCV000032889" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032889" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032889</a>
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<p>In affected members of a Turkish family with DFNB48 (<a href="/entry/609439">609439</a>), <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous 368T-C transition in the CIB2 gene, resulting in an ile123-to-thr (I123T) substitution at a highly conserved residue in the second EF-hand binding domain. The mutation was not found in 724 control chromosomes. Transfection of the mutation into COS-7 cells significantly increased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 USHER SYNDROME, TYPE IJ</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs145415848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145415848;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs145415848?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs145415848" 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=rs145415848" 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=RCV000032890 OR RCV000223233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032890, RCV000223233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032890...</a>
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<p>In affected members of a large consanguineous Turkish family with Usher syndrome type IJ (USH1J; <a href="/entry/614869">614869</a>) originally reported by <a href="#1" class="mim-tip-reference" title="Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B. <strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong> Clin. Genet. 75: 86-91, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505454</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505454[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/10.1111/j.1399-0004.2008.01038.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505454">Ahmed et al. (2009)</a> as family PKDF117, <a href="#2" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. <strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong> Nature Genet. 44: 1265-1271, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous 192G-C transversion in the CIB2 gene, resulting in a glu64-to-asp (E64D) substitution at a highly conserved residue. The mutation was not found in 676 control chromosomes. Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18505454+23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Ahmed2009" class="mim-anchor"></a>
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Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B.
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<strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong>
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Clin. Genet. 75: 86-91, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505454</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505454[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=18505454" 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/10.1111/j.1399-0004.2008.01038.x" target="_blank">Full Text</a>]
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Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others.
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<strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong>
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Nature Genet. 44: 1265-1271, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[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=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2426" target="_blank">Full Text</a>]
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<a id="Seki1999" class="mim-anchor"></a>
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Seki, N., Hattori, A., Hayashi, A., Kozuma, S., Ohira, M., Hori, T., Saito, T.
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<strong>Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.</strong>
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Biochim. Biophys. Acta 1444: 143-147, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0167-4781(98)00253-x" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/15/2012
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Yen-Pei C. Chang : 1/19/2001
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carol : 10/04/2016
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carol : 08/04/2016<br>terry : 11/06/2012<br>carol : 10/15/2012<br>ckniffin : 10/15/2012<br>mgross : 12/12/2006<br>carol : 12/19/2001<br>carol : 1/22/2001<br>cwells : 1/22/2001<br>cwells : 1/22/2001<br>cwells : 1/19/2001
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<strong>*</strong> 605564
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CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2
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DNA-DEPENDENT PROTEIN KINASE-INTERACTING PROTEIN 2<br />
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KINASE-INTERACTING PROTEIN 2; KIP2
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<strong><em>HGNC Approved Gene Symbol: CIB2</em></strong>
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Cytogenetic location: 15q25.1
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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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15q25.1
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Deafness, autosomal recessive 48
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<span class="mim-font">
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609439
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Autosomal recessive
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3
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Usher syndrome, type IJ
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614869
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The CIB2 gene encodes a protein belonging to a family of calcium- and integrin-binding proteins containing 3 or 4 EF-hand domains that change conformation upon binding of calcium and presumably mediate intracellular calcium signaling. CIB2 has conserved roles in calcium homeostasis (summary by Riazuddin et al., 2012). </p>
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<strong>Cloning and Expression</strong>
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<p>DNA-dependent protein kinases (DNA-PK) play a role in the repair of double-strand DNA breaks and in the process of V(D)J recombination during lymphoid development. By EST database searching for sequences homologous to the DNA-PK gene KIP/CIB (602293) and 5-prime RACE, Seki et al. (1999) isolated a full-length cDNA, which they designated KIP2, from a human fetal brain cDNA library. KIP2 encodes a deduced 187-amino acid protein with a predicted molecular mass of 22 kD. The KIP2 protein shares 46%, 39%, and 30% sequence identity with the calcium-binding proteins KIP/CIB (602293), calcineurin B (601302), and calmodulin (114180), respectively. Sequence analysis of KIP2 revealed 2 EF-hand motifs and a helix-loop-helix motif involved in coordinating the calcium ion, indicating that KIP2 may also bind calcium. RT-PCR analysis indicated that KIP2 is ubiquitously expressed in various human tissues. </p><p>Riazuddin et al. (2012) found that CIB2 was widely expressed in human and adult and embryonic mouse tissues, including in the inner ear and retina. There was a 57-fold enrichment of Cib2 mRNA in mouse cochlear hair cells at postnatal day 7 compared to supporting cells. Cib2 immunoreactivity was first observed at P2 in the organ of Corti and vestibular organs. In adult mouse, Cib2 was observed in the cytoplasm of supporting cells and was concentrated toward the tips of stereocilia of the inner and outer hair cells and vestibular hair cells. Its localization there may reflect involvement in calcium signaling that regulates mechanoelectrical transduction. In the mouse retina, Cib2 was present in inner and outer segments of photoreceptor cells and in the retinal pigmented epithelium. There was also immunoreactivity in the inner and outer plexiform layers and in ganglion cells. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>The CIB2 gene contains 6 exons encoding 3 different isoforms (summary by Riazuddin et al., 2012). </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Using a radiation hybrid panel and FISH analyses, Seki et al. (1999) localized the KIP2 gene to chromosome 15q24. Since the KIP/CIB gene maps to 15q25.3-q26.1, the authors suggested that KIP2 and CIB are likely 2 isologs derived from an intrachromosomal gene duplication. </p>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<p>In COS-7 cells, Riazuddin et al. (2012) found that expression of wildtype CIB2 caused a 40% decrease in ATP-induced calcium release compared to cells transfected with empty vector, suggesting that CIB2 has an inhibitory effect on calcium responses. CIB2 interacted with and multimerized with whirlin (WHRN; 607928) and with myosin VIIa (MYO7A; 276903), 2 proteins implicated in Usher syndrome (see, e.g., 276900). </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Autosomal Recessive Deafness 48</em></strong></p><p>
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In affected members of 54 Pakistani families with autosomal recessive deafness-48 (DFNB48; 609439), Riazuddin et al. (2012) identified a homozygous mutation in the CIB2 gene (F91S; 605564.0001). Two additional homozygous CIB2 mutations were found in other families with DFNB48 (C99W, 605564.0002 and I123T, 605564.0003). Riazuddin et al. (2012) estimated that CIB2 mutations may account for up to 7.25% of Pakistani families with autosomal recessive deafness. Transfection of the F91S and C99W mutations in COS-7 cells decreased or abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype, whereas transfection of the I123T mutation increased the ability of CIB2 to decrease calcium release compared to wildtype. These findings suggested that the mutations had an effect on CIB2 calcium-binding or buffering activity. Studies in zebrafish and Drosophila (see ANIMAL MODEL) indicated that Cib2 is important for the function and proper development of hair cells in the ear and photoreceptor cells in the eye. Overall, the results indicated that loss of Cib2 results in defects in calcium regulation. </p><p><strong><em>Usher Syndrome, Type IJ</em></strong></p><p>
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In affected members of a large consanguineous Turkish family with Usher syndrome type IJ (USH1J; 614869) originally reported by Ahmed et al. (2009) as family PKDF117, Riazuddin et al. (2012) identified a homozygous mutation in the CIB2 gene (E64D; 605564.0004). Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. </p>
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<strong>Animal Model</strong>
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<p>Riazuddin et al. (2012) found that knockdown of Cib2 in zebrafish resulted in a mutant phenotype, including microphthalmia, curled tail, hypopigmentation, and edematous heart. Mutant zebrafish had a marked decrease in the number and function of mechanosensory hair cells, did not respond to acoustic stimuli, and were unable to remain upright while swimming. Knockdown of a Drosophila Cib2-related gene decreased photoresponse amplitude and impaired responses to flicker stimuli at high frequencies. These flies showed photoreceptor degeneration when raised under constant light, suggesting that Cib2 is required for proper phototransduction and prevention of light-dependent retinal degeneration. The phenotypes indicated that loss of Cib2 resulting in defects in calcium regulation can contribute to mechanotransduction defects and defects in photoreceptor maintenance. </p>
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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>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 48</strong>
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</span>
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</h4>
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</div>
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CIB2, PHE91SER
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<br />
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SNP: rs397515411,
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gnomAD: rs397515411,
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ClinVar: RCV000032887, RCV001291223, RCV002496493
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</span>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 54 Pakistani families with autosomal recessive deafness-48 (DFNB48; 609439), Riazuddin et al. (2012) identified a homozygous 272T-C transition in the CIB2 gene, resulting in a phe91-to-ser (F91S) substitution at a highly conserved residue in the first EF-hand binding domain. Haplotype analysis was consistent with a founder effect. The F91S mutation was found in 1 of 1,068 Pakistani control chromosomes, but not in several large exome databases. Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 48</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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CIB2, CYS99TRP
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<br />
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SNP: rs370965183,
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gnomAD: rs370965183,
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ClinVar: RCV000032888, RCV001291224
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 2 Pakistani families with DFNB48 (609439), Riazuddin et al. (2012) identified a homozygous 297C-G transversion in the CIB2 gene, resulting in a cys99-to-trp (C99W) substitution at a highly conserved residue. Haplotype analysis was consistent with a founder effect. The C99W mutation was found in 5 of 1,068 Pakistani control chromosomes, but not in several large exome databases. Transfection of the mutation into COS-7 cells abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 48</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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CIB2, ILE123THR
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<br />
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SNP: rs397515412,
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ClinVar: RCV000032889
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a Turkish family with DFNB48 (609439), Riazuddin et al. (2012) identified a homozygous 368T-C transition in the CIB2 gene, resulting in an ile123-to-thr (I123T) substitution at a highly conserved residue in the second EF-hand binding domain. The mutation was not found in 724 control chromosomes. Transfection of the mutation into COS-7 cells significantly increased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 USHER SYNDROME, TYPE IJ</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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CIB2, GLU64ASP
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<br />
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SNP: rs145415848,
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gnomAD: rs145415848,
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ClinVar: RCV000032890, RCV000223233
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large consanguineous Turkish family with Usher syndrome type IJ (USH1J; 614869) originally reported by Ahmed et al. (2009) as family PKDF117, Riazuddin et al. (2012) identified a homozygous 192G-C transversion in the CIB2 gene, resulting in a glu64-to-asp (E64D) substitution at a highly conserved residue. The mutation was not found in 676 control chromosomes. Transfection of the mutation into COS-7 cells significantly decreased the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B.
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<strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong>
|
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Clin. Genet. 75: 86-91, 2009.
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[PubMed: 18505454]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01038.x]
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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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Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others.
|
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<strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong>
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Nature Genet. 44: 1265-1271, 2012.
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[PubMed: 23023331]
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[Full Text: https://doi.org/10.1038/ng.2426]
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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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Seki, N., Hattori, A., Hayashi, A., Kozuma, S., Ohira, M., Hori, T., Saito, T.
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<strong>Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.</strong>
|
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Biochim. Biophys. Acta 1444: 143-147, 1999.
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[PubMed: 9931475]
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[Full Text: https://doi.org/10.1016/s0167-4781(98)00253-x]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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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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Cassandra L. Kniffin - updated : 10/15/2012
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</div>
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</div>
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</div>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Yen-Pei C. Chang : 1/19/2001
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Edit History:
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carol : 10/04/2016<br>carol : 08/04/2016<br>terry : 11/06/2012<br>carol : 10/15/2012<br>ckniffin : 10/15/2012<br>mgross : 12/12/2006<br>carol : 12/19/2001<br>carol : 1/22/2001<br>cwells : 1/22/2001<br>cwells : 1/22/2001<br>cwells : 1/19/2001
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