2964 lines
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- *600003 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2
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- OMIM
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<div id="mimAlertBanner">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600003</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600003">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165995;t=ENST00000324631" 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=783" 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=600003" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165995;t=ENST00000324631" 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_000724,NM_001167945,NM_001330060,NM_001410882,NM_201570,NM_201571,NM_201572,NM_201590,NM_201593,NM_201596,NM_201597,XM_005252591,XM_006717502,XM_011519659,XM_047425725" 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_201596" 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=600003" 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=02473&isoform_id=02473_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/CACNB2" 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/300417,2058725,4928801,4928803,13376991,15743566,16304166,16304168,16304170,16304172,18481641,37678116,37678118,37678120,37678122,37678124,37678126,45359834,45359842,55275365,55275367,62087414,119606599,119606600,119606601,119606602,119606603,145559447,147898681,147901383,147904948,148223541,148226485,148232726,187953241,221039690,221039736,221040604,221041378,221042962,269308235,530392443,578818569,767960503,1052292376,2217278558,2287478737,2462520916,2462520918,2462520920,2462520922" 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/Q08289" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=783" 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=ENSG00000165995;t=ENST00000324631" 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=CACNB2" 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=CACNB2" 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+783" 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/CACNB2" 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:783" 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/783" 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=chr10&hgg_gene=ENST00000324631.13&hgg_start=18140424&hgg_end=18543557&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1402" 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=600003[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=600003[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/CACNB2/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/ENSG00000165995" 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=CACNB2" 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=CACNB2" 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=CACNB2" 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=CACNB2&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/PA88" 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:1402" 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://www.mousephenotype.org/data/genes/MGI:894644" 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/CACNB2#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:894644" 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/783/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=783" 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=WBGene00000368;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-050208-129" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:783" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CACNB2&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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600003
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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 CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2
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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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Ca(V) BETA-2; CAVB2<br />
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MYASTHENIC SYNDROME ANTIGEN B; MYSB<br />
|
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LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN
|
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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=CACNB2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CACNB2</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/10/88?start=-3&limit=10&highlight=88">10p12.33-p12.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:18140424-18543557&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'})">10:18,140,424-18,543,557</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/10/88?start=-3&limit=10&highlight=88">
|
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10p12.33-p12.31
|
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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">
|
|
Brugada syndrome 4
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/611876"> 611876 </a>
|
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|
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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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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/600003" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600003" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#11" class="mim-tip-reference" title="Williams, M. E., Feldman, D. H., McCue, A. F., Brenner, R., Velicelebi, G., Ellis, S. B., Harpold, M. M. <strong>Structure and functional expression of alpha-1, alpha-2, and beta subunits of a novel human neuronal calcium channel subtype.</strong> Neuron 8: 71-84, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1309651</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90109-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1309651">Williams et al. (1992)</a> isolated a cDNA corresponding to the beta-2 subunit of a voltage-dependent calcium channel from a human hippocampus cDNA library. The deduced 478-amino acid protein has a calculated molecular mass of 53 kD. There was evidence for various tissue-specific transcripts in brain, skeletal muscle, and aorta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1309651" 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>Lambert-Eaton myasthenic syndrome is a paraneoplastic neuromuscular disorder in which an autoimmune response directed against a small-cell lung tumor crossreacts with antigens in the neuromuscular junction. To isolate and characterize the antigens, <a href="#7" class="mim-tip-reference" title="Rosenfeld, M. R., Wong, E., Dalmau, J., Manley, G., Posner, J. B., Sher, E., Furneaux, H. M. <strong>Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen.</strong> Ann. Neurol. 33: 113-120, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494331</a>] [<a href="https://doi.org/10.1002/ana.410330126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494331">Rosenfeld et al. (1993)</a> screened a human fetal brain expression library with a high-titer serum from a patient with Lambert-Eaton myasthenic syndrome. The screening resulted in the isolation of a cDNA clone encoding an antigen that they called myasthenic antigen B (MYSB). Of 7 Lambert-Eaton myasthenic syndrome sera, 3 recognized the MYSB fusion protein, whereas none of 34 control sera did. The predicted amino acid sequence of this clone shows a high degree of homology to the beta-subunit of calcium channel complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By PCR using primers based on the sequence of rat brain Cacnb2 and the sequence of the Lambert-Eaton myasthenic syndrome antigen, <a href="#1" class="mim-tip-reference" title="Allen, T. J. A., Mikala, G. <strong>Effects of temperature on human L-type cardiac Ca(2+) channels expressed in Xenopus oocytes.</strong> Pflugers Arch. 436: 238-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9594024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9594024</a>] [<a href="https://doi.org/10.1007/s004240050628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9594024">Allen and Mikala (1998)</a> cloned a splice variant of CACNB2 from human cardiac mRNA that they called beta-2c. The deduced protein contains 660 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9594024" 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="#12" class="mim-tip-reference" title="Yamaguchi, H., Okuda, M., Mikala, G., Fukasawa, K., Varadi, G. <strong>Cloning of the beta-2a subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha-2/delta and beta-2a on the membrane expression of the alpha-1c subunit.</strong> Biochem. Biophys. Res. Commun. 267: 156-163, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10623591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10623591</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10623591">Yamaguchi et al. (2000)</a> cloned an alternatively spliced CACNB2 variant from human heart RNA that they called beta-2a. The deduced protein contains the N-terminal palmitoylation site found in other mammalian beta-2 isoforms, but it has a shorter N-terminal domain than rabbit beta-2b and human beta-2c. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10623591" 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="#8" class="mim-tip-reference" title="Taviaux, S., Williams, M. E., Harpold, M. M., Nargeot, J., Lory, P. <strong>Assignment of human genes for beta-2 and beta-4 subunits of voltage-dependent Ca(2+) channels to chromosomes 10p12 and 2q22-q23.</strong> Hum. Genet. 100: 151-154, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254841</a>] [<a href="https://doi.org/10.1007/pl00008704" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9254841">Taviaux et al. (1997)</a> used a human beta-2 cDNA probe to map the gene encoding the beta-2 isoform of the regulatory beta subunit of voltage-activated Ca(2+) channels, CACNB2, to chromosome 10p12 by fluorescence in situ hybridization. The gene encoding the beta-2 protein, first described as a Lambert-Eaton myasthenic syndrome antigen B in humans, is found close to a region that undergoes chromosome rearrangements in small cell lung cancer with which Lambert-Eaton syndrome has been observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9254841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By studies in Xenopus oocytes, <a href="#11" class="mim-tip-reference" title="Williams, M. E., Feldman, D. H., McCue, A. F., Brenner, R., Velicelebi, G., Ellis, S. B., Harpold, M. M. <strong>Structure and functional expression of alpha-1, alpha-2, and beta subunits of a novel human neuronal calcium channel subtype.</strong> Neuron 8: 71-84, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1309651</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90109-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1309651">Williams et al. (1992)</a> found that the beta-2 subunit formed a dihydropyrimidine (DHP)-sensitive, high voltage-activated, long-lasting calcium channel when coexpressed with an alpha-1D (CACNA1D; <a href="/entry/114206">114206</a>) subunit. Channel activity was enhanced by coexpression of an alpha-2 (CACNA2D1; <a href="/entry/114204">114204</a>) subunit. The beta-2 subunit served an obligatory function in channel activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1309651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Allen, T. J. A., Mikala, G. <strong>Effects of temperature on human L-type cardiac Ca(2+) channels expressed in Xenopus oocytes.</strong> Pflugers Arch. 436: 238-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9594024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9594024</a>] [<a href="https://doi.org/10.1007/s004240050628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9594024">Allen and Mikala (1998)</a> found that expression of the beta-2c isoform of CACNB2 in Xenopus oocytes gave rise to channels that functioned similarly to those containing the beta-1b subunit (CACNB1; <a href="/entry/114207">114207</a>) when coexpressed with the alpha-1c (CACNA1C; <a href="/entry/114205">114205</a>) and alpha-2/delta-a (CACNA2D1) subunits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9594024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By expression studies in Xenopus oocytes, <a href="#12" class="mim-tip-reference" title="Yamaguchi, H., Okuda, M., Mikala, G., Fukasawa, K., Varadi, G. <strong>Cloning of the beta-2a subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha-2/delta and beta-2a on the membrane expression of the alpha-1c subunit.</strong> Biochem. Biophys. Res. Commun. 267: 156-163, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10623591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10623591</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10623591">Yamaguchi et al. (2000)</a> showed that beta-2a and alpha-2/delta cooperatively increased membrane expression of the alpha-1c subunit, whereas their effects on voltage-dependence of the channel complex were additive. Furthermore, the beta-2a subunit, but not the alpha-2/delta subunit, enhanced channel opening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10623591" 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="#10" class="mim-tip-reference" title="Viard, P., Butcher, A. J., Halet, G., Davies, A., Nurnberg, B., Heblich, F., Dolphin, A. C. <strong>PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane.</strong> Nature Neurosci. 7: 939-946, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15311280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15311280</a>] [<a href="https://doi.org/10.1038/nn1300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15311280">Viard et al. (2004)</a> found that both mammalian phosphatidylinositol 3-kinase (PI3K)-alpha (see PIK3CA; <a href="/entry/171834">171834</a>) and PI3K-gamma (see PIK3CG; <a href="/entry/601232">601232</a>) increased the expression of functional Ca(V) channels at the plasma membrane of transfected COS-7 cells. This regulation occurred for channels associated specifically with CACNB2. PI3K-induced regulation was mediated by PI(3,4,5)P3-activated AKT (see <a href="/entry/164730">164730</a>) and required the phosphorylation of CACNB2 on a unique serine residue (ser574 in human). In primary cultures of rat dorsal root ganglion cells, acute stimulation of PI3K by tyrosine kinase-associated receptors also induced the translocation of Ca(V) channels to the plasma membrane. <a href="#10" class="mim-tip-reference" title="Viard, P., Butcher, A. J., Halet, G., Davies, A., Nurnberg, B., Heblich, F., Dolphin, A. C. <strong>PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane.</strong> Nature Neurosci. 7: 939-946, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15311280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15311280</a>] [<a href="https://doi.org/10.1038/nn1300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15311280">Viard et al. (2004)</a> concluded that PI3K-induced regulation of Ca(V) channel trafficking may be a general mechanism for the regulation of calcium entry in excitable cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15311280" 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="#6" class="mim-tip-reference" title="McGee, A. W., Nunziato, D. A., Maltez, J. M., Prehoda, K. E., Pitt, G. S., Bredt, D. S. <strong>Calcium channel function regulated by the SH3-GK module in beta subunits.</strong> Neuron 42: 89-99, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15066267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15066267</a>] [<a href="https://doi.org/10.1016/s0896-6273(04)00149-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15066267">McGee et al. (2004)</a> noted that the C1 and C2 regions of beta subunits share limited sequence homology with the Src (<a href="/entry/190090">190090</a>) homology-3 (SH3)-guanylate kinase (GK) module that mediates protein-protein interactions in membrane-associated guanylate kinases (MAGUKs; see <a href="/entry/305360">305360</a>). They found that mutations that disrupted the assembly of the SH3 fold in rat beta-2a interfered with modulation of the voltage-gated calcium channel by this beta subunit. <a href="#6" class="mim-tip-reference" title="McGee, A. W., Nunziato, D. A., Maltez, J. M., Prehoda, K. E., Pitt, G. S., Bredt, D. S. <strong>Calcium channel function regulated by the SH3-GK module in beta subunits.</strong> Neuron 42: 89-99, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15066267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15066267</a>] [<a href="https://doi.org/10.1016/s0896-6273(04)00149-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15066267">McGee et al. (2004)</a> showed that a functional beta subunit required intramolecular or intermolecular SH3-GK assembly. They concluded that the SH3-GK module transduces regulation of channel activity by beta subunits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15066267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#9" class="mim-tip-reference" title="Van Petegem, F., Clark, K. A., Chatelain, F. C., Minor, D. L., Jr. <strong>Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.</strong> Nature 429: 671-675, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15141227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15141227</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15141227[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/nature02588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15141227">Van Petegem et al. (2004)</a> reported the high resolution crystal structure of the CAVB2A conserved core, alone and in complex with the alpha-interaction domain. The structure shows that CAVB2A engages the alpha-interaction domain through an extensive, conserved hydrophobic cleft, which <a href="#9" class="mim-tip-reference" title="Van Petegem, F., Clark, K. A., Chatelain, F. C., Minor, D. L., Jr. <strong>Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.</strong> Nature 429: 671-675, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15141227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15141227</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15141227[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/nature02588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15141227">Van Petegem et al. (2004)</a> named the alpha-binding pocket (ABP). The ABP-alpha-interaction domain interaction positions one end of the CAVB near the intracellular end of a pore-lining segment that has a critical role in voltage-gated calcium channel interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15141227" 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="Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., Gelber, P., Bonaros, E. P., Jr., and 11 others. <strong>Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.</strong> Circulation 115: 442-449, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17224476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17224476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17224476[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/10.1161/CIRCULATIONAHA.106.668392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17224476">Antzelevitch et al. (2007)</a> screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome (see Brugada syndrome-1; <a href="/entry/601144">601144</a>) for mutations in 16 ion channel genes. In 1 Brugada proband who exhibited a shortened QTc interval of 330 ms (see Brugada syndrome-4; BRGDA4, <a href="/entry/611876">611876</a>), they identified a heterozygous missense mutation in the CACNB2 gene (S481L; <a href="#0001">600003.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17224476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 34-year-old man with Brugada syndrome, <a href="#3" class="mim-tip-reference" title="Cordeiro, J. M., Marieb, M., Pfeiffer, R., Calloe, K., Burashnikov, E., Antzelevitch, C. <strong>Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.</strong> J. Molec. Cell. Cardiol. 46: 695-703, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19358333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19358333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19358333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.yjmcc.2009.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19358333">Cordeiro et al. (2009)</a> screened for mutations in 15 ion channel genes and identified only 1 heterozygous missense mutation in the CACNB2 gene (T11I; <a href="#0002">600003.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19358333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J. <strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong> J. Am. Coll. Cardiol. 60: 1410-1418, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22840528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22840528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22840528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.04.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22840528">Crotti et al. (2012)</a> analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A (<a href="/entry/600163">600163</a>) mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes, including 2 asymptomatic patients with a type 1 Brugada syndrome ECG pattern who were each heterozygous for a putative pathogenic missense mutation in the CACNB2 gene (V340I and E499D, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22840528" 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>CACNB2 is a member of the voltage-gated calcium channel gene superfamily. <a href="#5" class="mim-tip-reference" title="Lory, P., Ophoff, R. A., Nahmias, J. <strong>Towards a unified nomenclature describing voltage-gated calcium channel genes.</strong> Hum. Genet. 100: 149-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254840</a>] [<a href="https://doi.org/10.1007/s004390050481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9254840">Lory et al. (1997)</a> provided a unified nomenclature for voltage-gated calcium channel genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9254840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600003[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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<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> rs121917812 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917812;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/rs121917812?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=rs121917812" 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=rs121917812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 6 affected members of a family with Brugada syndrome and a shortened QTc interval (Brugada syndrome-4; <a href="/entry/611876">611876</a>), <a href="#2" class="mim-tip-reference" title="Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., Gelber, P., Bonaros, E. P., Jr., and 11 others. <strong>Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.</strong> Circulation 115: 442-449, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17224476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17224476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17224476[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/10.1161/CIRCULATIONAHA.106.668392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17224476">Antzelevitch et al. (2007)</a> identified heterozygosity for a 1442C-T transition in exon 13 of the CACNB2 gene, predicted to result in a ser481-to-leu (S481L) substitution downstream of the beta-subunit interaction domain segment. The mutation was not found in 4 unaffected family members or in 400 ethnically matched control alleles. Patch-clamp experiments in Chinese hamster ovary (CHO) cells demonstrated a marked reduction in current amplitude of mutant channels compared to wildtype, although voltage at peak current was unchanged; confocal microscopy revealed normal trafficking of channels containing S481L subunits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17224476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777742 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777742;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=rs587777742" 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=rs587777742" 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=RCV000144246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144246</a>
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<p>In a 34-year-old man with Brugada syndrome-4 (BRGDA4; <a href="/entry/611876">611876</a>), <a href="#3" class="mim-tip-reference" title="Cordeiro, J. M., Marieb, M., Pfeiffer, R., Calloe, K., Burashnikov, E., Antzelevitch, C. <strong>Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.</strong> J. Molec. Cell. Cardiol. 46: 695-703, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19358333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19358333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19358333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.yjmcc.2009.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19358333">Cordeiro et al. (2009)</a> identified a heterozygous C-to-T transition in exon 1 of the CACNB2b gene, resulting in a thr11-to-ile (T11I) substitution. The mutation was not present in 214 ethnically matched control alleles. The mutation occurred upstream of the beta-subunit interaction domain segment in variable domain 1 near the N terminus. Patch-clamp experiments in TSA201 cells showed no significant difference between wildtype and T11I in peak calcium current density, steady- state inactivation, or recovery from inactivation; however, both fast and slow decays of peak calcium channel were significantly faster in mutant channels between 0 and 20 mV. Action potential voltage clamp experiments showed that total charge was reduced by almost half compared to wildtype. The findings suggested that accelerated inactivation of the channel results in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19358333" 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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Allen, T. J. A., Mikala, G.
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<strong>Effects of temperature on human L-type cardiac Ca(2+) channels expressed in Xenopus oocytes.</strong>
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Pflugers Arch. 436: 238-247, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9594024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9594024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9594024" 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/10.1007/s004240050628" target="_blank">Full Text</a>]
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Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., Gelber, P., Bonaros, E. P., Jr., and 11 others.
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<strong>Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.</strong>
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Circulation 115: 442-449, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17224476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17224476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17224476[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=17224476" 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/10.1161/CIRCULATIONAHA.106.668392" target="_blank">Full Text</a>]
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Cordeiro, J. M., Marieb, M., Pfeiffer, R., Calloe, K., Burashnikov, E., Antzelevitch, C.
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<strong>Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.</strong>
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J. Molec. Cell. Cardiol. 46: 695-703, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19358333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19358333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19358333[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=19358333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.yjmcc.2009.01.014" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Crotti2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J.
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<strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong>
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J. Am. Coll. Cardiol. 60: 1410-1418, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22840528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22840528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22840528[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=22840528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jacc.2012.04.037" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Lory1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lory, P., Ophoff, R. A., Nahmias, J.
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|
<strong>Towards a unified nomenclature describing voltage-gated calcium channel genes.</strong>
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Hum. Genet. 100: 149-150, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9254840" 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/10.1007/s004390050481" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="McGee2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGee, A. W., Nunziato, D. A., Maltez, J. M., Prehoda, K. E., Pitt, G. S., Bredt, D. S.
|
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<strong>Calcium channel function regulated by the SH3-GK module in beta subunits.</strong>
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Neuron 42: 89-99, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15066267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15066267</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15066267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0896-6273(04)00149-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Rosenfeld1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenfeld, M. R., Wong, E., Dalmau, J., Manley, G., Posner, J. B., Sher, E., Furneaux, H. M.
|
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<strong>Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen.</strong>
|
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Ann. Neurol. 33: 113-120, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494331" 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/10.1002/ana.410330126" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Taviaux1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taviaux, S., Williams, M. E., Harpold, M. M., Nargeot, J., Lory, P.
|
|
<strong>Assignment of human genes for beta-2 and beta-4 subunits of voltage-dependent Ca(2+) channels to chromosomes 10p12 and 2q22-q23.</strong>
|
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Hum. Genet. 100: 151-154, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9254841" 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/10.1007/pl00008704" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Van Petegem2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Petegem, F., Clark, K. A., Chatelain, F. C., Minor, D. L., Jr.
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<strong>Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.</strong>
|
|
Nature 429: 671-675, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15141227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15141227</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15141227[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=15141227" 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/nature02588" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Viard2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Viard, P., Butcher, A. J., Halet, G., Davies, A., Nurnberg, B., Heblich, F., Dolphin, A. C.
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<strong>PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane.</strong>
|
|
Nature Neurosci. 7: 939-946, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15311280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15311280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15311280" 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/nn1300" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Williams1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, M. E., Feldman, D. H., McCue, A. F., Brenner, R., Velicelebi, G., Ellis, S. B., Harpold, M. M.
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<strong>Structure and functional expression of alpha-1, alpha-2, and beta subunits of a novel human neuronal calcium channel subtype.</strong>
|
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Neuron 8: 71-84, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1309651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1309651" 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/10.1016/0896-6273(92)90109-q" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Yamaguchi2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaguchi, H., Okuda, M., Mikala, G., Fukasawa, K., Varadi, G.
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<strong>Cloning of the beta-2a subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha-2/delta and beta-2a on the membrane expression of the alpha-1c subunit.</strong>
|
|
Biochem. Biophys. Res. Commun. 267: 156-163, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10623591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10623591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10623591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1999.1926" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/27/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Carol A. Bocchini - updated : 9/26/2014<br>Marla J. F. O'Neill - updated : 3/4/2008<br>Cassandra L. Kniffin - updated : 2/7/2008<br>Patricia A. Hartz - updated : 5/12/2005<br>Patricia A. Hartz - updated : 11/11/2004<br>Patricia A. Hartz - updated : 10/11/2004<br>Ada Hamosh - updated : 6/11/2004<br>Victor A. McKusick - updated : 8/20/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/28/1994
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 11/06/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 11/6/2014<br>mcolton : 10/27/2014<br>carol : 9/30/2014<br>mcolton : 9/29/2014<br>carol : 9/26/2014<br>carol : 12/15/2011<br>wwang : 3/4/2008<br>wwang : 2/21/2008<br>ckniffin : 2/7/2008<br>wwang : 5/20/2005<br>wwang : 5/17/2005<br>terry : 5/12/2005<br>mgross : 11/11/2004<br>mgross : 11/11/2004<br>mgross : 10/11/2004<br>alopez : 6/15/2004<br>terry : 6/11/2004<br>mark : 8/20/1997<br>mimadm : 9/23/1995<br>jason : 6/28/1994
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 600003
|
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</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
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|
|
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
Ca(V) BETA-2; CAVB2<br />
|
|
MYASTHENIC SYNDROME ANTIGEN B; MYSB<br />
|
|
LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN
|
|
</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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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CACNB2</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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<p>
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 10p12.33-p12.31
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 10:18,140,424-18,543,557 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
10p12.33-p12.31
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
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<span class="mim-font">
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Brugada syndrome 4
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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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611876
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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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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Williams et al. (1992) isolated a cDNA corresponding to the beta-2 subunit of a voltage-dependent calcium channel from a human hippocampus cDNA library. The deduced 478-amino acid protein has a calculated molecular mass of 53 kD. There was evidence for various tissue-specific transcripts in brain, skeletal muscle, and aorta. </p><p>Lambert-Eaton myasthenic syndrome is a paraneoplastic neuromuscular disorder in which an autoimmune response directed against a small-cell lung tumor crossreacts with antigens in the neuromuscular junction. To isolate and characterize the antigens, Rosenfeld et al. (1993) screened a human fetal brain expression library with a high-titer serum from a patient with Lambert-Eaton myasthenic syndrome. The screening resulted in the isolation of a cDNA clone encoding an antigen that they called myasthenic antigen B (MYSB). Of 7 Lambert-Eaton myasthenic syndrome sera, 3 recognized the MYSB fusion protein, whereas none of 34 control sera did. The predicted amino acid sequence of this clone shows a high degree of homology to the beta-subunit of calcium channel complexes. </p><p>By PCR using primers based on the sequence of rat brain Cacnb2 and the sequence of the Lambert-Eaton myasthenic syndrome antigen, Allen and Mikala (1998) cloned a splice variant of CACNB2 from human cardiac mRNA that they called beta-2c. The deduced protein contains 660 amino acids. </p><p>Yamaguchi et al. (2000) cloned an alternatively spliced CACNB2 variant from human heart RNA that they called beta-2a. The deduced protein contains the N-terminal palmitoylation site found in other mammalian beta-2 isoforms, but it has a shorter N-terminal domain than rabbit beta-2b and human beta-2c. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Taviaux et al. (1997) used a human beta-2 cDNA probe to map the gene encoding the beta-2 isoform of the regulatory beta subunit of voltage-activated Ca(2+) channels, CACNB2, to chromosome 10p12 by fluorescence in situ hybridization. The gene encoding the beta-2 protein, first described as a Lambert-Eaton myasthenic syndrome antigen B in humans, is found close to a region that undergoes chromosome rearrangements in small cell lung cancer with which Lambert-Eaton syndrome has been observed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By studies in Xenopus oocytes, Williams et al. (1992) found that the beta-2 subunit formed a dihydropyrimidine (DHP)-sensitive, high voltage-activated, long-lasting calcium channel when coexpressed with an alpha-1D (CACNA1D; 114206) subunit. Channel activity was enhanced by coexpression of an alpha-2 (CACNA2D1; 114204) subunit. The beta-2 subunit served an obligatory function in channel activity. </p><p>Allen and Mikala (1998) found that expression of the beta-2c isoform of CACNB2 in Xenopus oocytes gave rise to channels that functioned similarly to those containing the beta-1b subunit (CACNB1; 114207) when coexpressed with the alpha-1c (CACNA1C; 114205) and alpha-2/delta-a (CACNA2D1) subunits. </p><p>By expression studies in Xenopus oocytes, Yamaguchi et al. (2000) showed that beta-2a and alpha-2/delta cooperatively increased membrane expression of the alpha-1c subunit, whereas their effects on voltage-dependence of the channel complex were additive. Furthermore, the beta-2a subunit, but not the alpha-2/delta subunit, enhanced channel opening. </p><p>Viard et al. (2004) found that both mammalian phosphatidylinositol 3-kinase (PI3K)-alpha (see PIK3CA; 171834) and PI3K-gamma (see PIK3CG; 601232) increased the expression of functional Ca(V) channels at the plasma membrane of transfected COS-7 cells. This regulation occurred for channels associated specifically with CACNB2. PI3K-induced regulation was mediated by PI(3,4,5)P3-activated AKT (see 164730) and required the phosphorylation of CACNB2 on a unique serine residue (ser574 in human). In primary cultures of rat dorsal root ganglion cells, acute stimulation of PI3K by tyrosine kinase-associated receptors also induced the translocation of Ca(V) channels to the plasma membrane. Viard et al. (2004) concluded that PI3K-induced regulation of Ca(V) channel trafficking may be a general mechanism for the regulation of calcium entry in excitable cells. </p><p>McGee et al. (2004) noted that the C1 and C2 regions of beta subunits share limited sequence homology with the Src (190090) homology-3 (SH3)-guanylate kinase (GK) module that mediates protein-protein interactions in membrane-associated guanylate kinases (MAGUKs; see 305360). They found that mutations that disrupted the assembly of the SH3 fold in rat beta-2a interfered with modulation of the voltage-gated calcium channel by this beta subunit. McGee et al. (2004) showed that a functional beta subunit required intramolecular or intermolecular SH3-GK assembly. They concluded that the SH3-GK module transduces regulation of channel activity by beta subunits. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Van Petegem et al. (2004) reported the high resolution crystal structure of the CAVB2A conserved core, alone and in complex with the alpha-interaction domain. The structure shows that CAVB2A engages the alpha-interaction domain through an extensive, conserved hydrophobic cleft, which Van Petegem et al. (2004) named the alpha-binding pocket (ABP). The ABP-alpha-interaction domain interaction positions one end of the CAVB near the intracellular end of a pore-lining segment that has a critical role in voltage-gated calcium channel interaction. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome (see Brugada syndrome-1; 601144) for mutations in 16 ion channel genes. In 1 Brugada proband who exhibited a shortened QTc interval of 330 ms (see Brugada syndrome-4; BRGDA4, 611876), they identified a heterozygous missense mutation in the CACNB2 gene (S481L; 600003.0001). </p><p>In a 34-year-old man with Brugada syndrome, Cordeiro et al. (2009) screened for mutations in 15 ion channel genes and identified only 1 heterozygous missense mutation in the CACNB2 gene (T11I; 600003.0002). </p><p>Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A (600163) mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes, including 2 asymptomatic patients with a type 1 Brugada syndrome ECG pattern who were each heterozygous for a putative pathogenic missense mutation in the CACNB2 gene (V340I and E499D, respectively). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CACNB2 is a member of the voltage-gated calcium channel gene superfamily. Lory et al. (1997) provided a unified nomenclature for voltage-gated calcium channel genes. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BRUGADA SYNDROME 4</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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CACNB2, SER481LEU
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<br />
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SNP: rs121917812,
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gnomAD: rs121917812,
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ClinVar: RCV000010155, RCV002390101
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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 6 affected members of a family with Brugada syndrome and a shortened QTc interval (Brugada syndrome-4; 611876), Antzelevitch et al. (2007) identified heterozygosity for a 1442C-T transition in exon 13 of the CACNB2 gene, predicted to result in a ser481-to-leu (S481L) substitution downstream of the beta-subunit interaction domain segment. The mutation was not found in 4 unaffected family members or in 400 ethnically matched control alleles. Patch-clamp experiments in Chinese hamster ovary (CHO) cells demonstrated a marked reduction in current amplitude of mutant channels compared to wildtype, although voltage at peak current was unchanged; confocal microscopy revealed normal trafficking of channels containing S481L subunits. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BRUGADA SYNDROME 4</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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CACNB2, THR11ILE
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<br />
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SNP: rs587777742,
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ClinVar: RCV000144246
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 34-year-old man with Brugada syndrome-4 (BRGDA4; 611876), Cordeiro et al. (2009) identified a heterozygous C-to-T transition in exon 1 of the CACNB2b gene, resulting in a thr11-to-ile (T11I) substitution. The mutation was not present in 214 ethnically matched control alleles. The mutation occurred upstream of the beta-subunit interaction domain segment in variable domain 1 near the N terminus. Patch-clamp experiments in TSA201 cells showed no significant difference between wildtype and T11I in peak calcium current density, steady- state inactivation, or recovery from inactivation; however, both fast and slow decays of peak calcium channel were significantly faster in mutant channels between 0 and 20 mV. Action potential voltage clamp experiments showed that total charge was reduced by almost half compared to wildtype. The findings suggested that accelerated inactivation of the channel results in a loss of function. </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>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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Allen, T. J. A., Mikala, G.
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<strong>Effects of temperature on human L-type cardiac Ca(2+) channels expressed in Xenopus oocytes.</strong>
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Pflugers Arch. 436: 238-247, 1998.
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[PubMed: 9594024]
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[Full Text: https://doi.org/10.1007/s004240050628]
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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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Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., Gelber, P., Bonaros, E. P., Jr., and 11 others.
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<strong>Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.</strong>
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Circulation 115: 442-449, 2007.
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[PubMed: 17224476]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.106.668392]
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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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Cordeiro, J. M., Marieb, M., Pfeiffer, R., Calloe, K., Burashnikov, E., Antzelevitch, C.
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<strong>Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.</strong>
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J. Molec. Cell. Cardiol. 46: 695-703, 2009.
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[PubMed: 19358333]
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[Full Text: https://doi.org/10.1016/j.yjmcc.2009.01.014]
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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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Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J.
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|
<strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong>
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J. Am. Coll. Cardiol. 60: 1410-1418, 2012.
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[PubMed: 22840528]
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[Full Text: https://doi.org/10.1016/j.jacc.2012.04.037]
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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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Lory, P., Ophoff, R. A., Nahmias, J.
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<strong>Towards a unified nomenclature describing voltage-gated calcium channel genes.</strong>
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Hum. Genet. 100: 149-150, 1997.
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[PubMed: 9254840]
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[Full Text: https://doi.org/10.1007/s004390050481]
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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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McGee, A. W., Nunziato, D. A., Maltez, J. M., Prehoda, K. E., Pitt, G. S., Bredt, D. S.
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<strong>Calcium channel function regulated by the SH3-GK module in beta subunits.</strong>
|
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Neuron 42: 89-99, 2004.
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[PubMed: 15066267]
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[Full Text: https://doi.org/10.1016/s0896-6273(04)00149-7]
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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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Rosenfeld, M. R., Wong, E., Dalmau, J., Manley, G., Posner, J. B., Sher, E., Furneaux, H. M.
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<strong>Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen.</strong>
|
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Ann. Neurol. 33: 113-120, 1993.
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[PubMed: 8494331]
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[Full Text: https://doi.org/10.1002/ana.410330126]
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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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Taviaux, S., Williams, M. E., Harpold, M. M., Nargeot, J., Lory, P.
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<strong>Assignment of human genes for beta-2 and beta-4 subunits of voltage-dependent Ca(2+) channels to chromosomes 10p12 and 2q22-q23.</strong>
|
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Hum. Genet. 100: 151-154, 1997.
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[PubMed: 9254841]
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[Full Text: https://doi.org/10.1007/pl00008704]
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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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Van Petegem, F., Clark, K. A., Chatelain, F. C., Minor, D. L., Jr.
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<strong>Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.</strong>
|
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Nature 429: 671-675, 2004.
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[PubMed: 15141227]
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[Full Text: https://doi.org/10.1038/nature02588]
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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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Viard, P., Butcher, A. J., Halet, G., Davies, A., Nurnberg, B., Heblich, F., Dolphin, A. C.
|
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<strong>PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane.</strong>
|
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Nature Neurosci. 7: 939-946, 2004.
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[PubMed: 15311280]
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[Full Text: https://doi.org/10.1038/nn1300]
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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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Williams, M. E., Feldman, D. H., McCue, A. F., Brenner, R., Velicelebi, G., Ellis, S. B., Harpold, M. M.
|
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<strong>Structure and functional expression of alpha-1, alpha-2, and beta subunits of a novel human neuronal calcium channel subtype.</strong>
|
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Neuron 8: 71-84, 1992.
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[PubMed: 1309651]
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[Full Text: https://doi.org/10.1016/0896-6273(92)90109-q]
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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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Yamaguchi, H., Okuda, M., Mikala, G., Fukasawa, K., Varadi, G.
|
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<strong>Cloning of the beta-2a subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha-2/delta and beta-2a on the membrane expression of the alpha-1c subunit.</strong>
|
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Biochem. Biophys. Res. Commun. 267: 156-163, 2000.
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[PubMed: 10623591]
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[Full Text: https://doi.org/10.1006/bbrc.1999.1926]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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Marla J. F. O'Neill - updated : 10/27/2014<br>Carol A. Bocchini - updated : 9/26/2014<br>Marla J. F. O'Neill - updated : 3/4/2008<br>Cassandra L. Kniffin - updated : 2/7/2008<br>Patricia A. Hartz - updated : 5/12/2005<br>Patricia A. Hartz - updated : 11/11/2004<br>Patricia A. Hartz - updated : 10/11/2004<br>Ada Hamosh - updated : 6/11/2004<br>Victor A. McKusick - updated : 8/20/1997
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Victor A. McKusick : 6/28/1994
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carol : 11/06/2014<br>carol : 11/6/2014<br>mcolton : 10/27/2014<br>carol : 9/30/2014<br>mcolton : 9/29/2014<br>carol : 9/26/2014<br>carol : 12/15/2011<br>wwang : 3/4/2008<br>wwang : 2/21/2008<br>ckniffin : 2/7/2008<br>wwang : 5/20/2005<br>wwang : 5/17/2005<br>terry : 5/12/2005<br>mgross : 11/11/2004<br>mgross : 11/11/2004<br>mgross : 10/11/2004<br>alopez : 6/15/2004<br>terry : 6/11/2004<br>mark : 8/20/1997<br>mimadm : 9/23/1995<br>jason : 6/28/1994
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