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<title>
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Entry
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- *601949 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*601949</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#animalModel">Animal Model</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601949">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000182389;t=ENST00000539935" 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=785" 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=601949" 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=ENSG00000182389;t=ENST00000539935" 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_000726,NM_001005746,NM_001005747,NM_001145798,NM_001320722,NM_001330113,NM_001330114,NM_001330115,NM_001330116,NM_001330117,NM_001330118,XM_011511796,XM_011511797,XM_017004888,XM_047445790,XM_047445791,XM_047445792,XM_047445793,XM_047445794,XM_047445795,XM_047445796,XM_047445797,XM_047445798,XR_007081584" 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_000726" 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=601949" 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=09057&isoform_id=09057_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/CACNB4" 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/2058727,3170132,7385057,16580155,50960471,54607064,54607066,54607068,62420297,62822162,62822210,119631898,119631899,125987802,152962846,158256192,158261121,194377406,221045478,224831262,310752169,767919646,767919648,1002819382,1034616478,1052786388,1052786469,1052789120,1052789129,1052789140,1052792290,2217330878,2217330882,2217330884,2217330887,2217330889,2217330891,2217330893,2217330895,2217330898,2462576965,2462576967,2462576969,2462576971,2462576973,2462576975,2462576977" 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/O00305" 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=785" 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=ENSG00000182389;t=ENST00000539935" 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=CACNB4" 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=CACNB4" 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+785" 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/CACNB4" 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:785" 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/785" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000637559.1&hgg_start=151832771&hgg_end=152099167&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:1404" 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=601949[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=601949[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000182389" 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=CACNB4" 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=CACNB4" 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=CACNB4" 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=CACNB4&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/PA26014" 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:1404" 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:103301" 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/CACNB4#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:103301" 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/785/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=785" 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-060421-7907" 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:785" 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=CACNB4&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718756005<br />
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">ICD+</a>
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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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601949
|
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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-4 SUBUNIT; CACNB4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CACNB4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CACNB4</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>
|
|
Cytogenetic location: <a href="/geneMap/2/690?start=-3&limit=10&highlight=690">2q23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:151832771-152099167&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:151,832,771-152,099,167</a> </span>
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
|
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</th>
|
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<th>
|
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=613855,607682,607682" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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<a href="/geneMap/2/690?start=-3&limit=10&highlight=690">
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2q23.3
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</a>
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<span class="mim-font">
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?Episodic ataxia, type 5
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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<span class="mim-font">
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<a href="/entry/613855"> 613855 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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 class="mim-font">
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{Epilepsy, idiopathic generalized, susceptibility to, 9}
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/607682"> 607682 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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 class="mim-font">
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{Epilepsy, juvenile myoclonic, susceptibility to, 6}
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<td>
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<span class="mim-font">
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<a href="/entry/607682"> 607682 </a>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/601949" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601949" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cloning and Expression</strong>
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<p>By amplification of human cerebellar RNA using primer pairs complementary to the rat beta-4 cDNA, followed by database searching with a rat Cacnb4 cDNA sequence, <a href="#7" class="mim-tip-reference" title="Escayg, A., Jones, J. M., Kearney, J. A., Hitchcock, P. F., Meisler, M. H. <strong>Calcium channel beta-4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.</strong> Genomics 50: 14-22, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628818</a>] [<a href="https://doi.org/10.1006/geno.1998.5311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628818">Escayg et al. (1998)</a> identified the full-length human CACNB4 sequence. The 1,560-bp open reading frame predicts a 58-kD, 520-amino acid protein that is 99% identical to the rat protein. Northern blot analysis of human cerebellar RNA demonstrated 1 major 9-kb CACNB4 transcript. RT-PCR of total RNA detected expression in cerebellum, kidney, testis, retina, lymphoblasts, and circulating lymphocytes. In situ hybridization to mouse retina sections localized Cacnb4 expression to the ganglion cell and inner nuclear layers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628818" 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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<br />
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Nomenclature</strong>
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</h4>
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<span class="mim-text-font">
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<p><a href="#9" 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> suggested 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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<br />
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<div>
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#7" class="mim-tip-reference" title="Escayg, A., Jones, J. M., Kearney, J. A., Hitchcock, P. F., Meisler, M. H. <strong>Calcium channel beta-4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.</strong> Genomics 50: 14-22, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628818</a>] [<a href="https://doi.org/10.1006/geno.1998.5311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628818">Escayg et al. (1998)</a> determined that the CACNB4 gene contains 13 coding exons distributed over more than 55 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628818" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#10" 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 cDNA probe covering the 3-prime end of the human beta-4 gene (see GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=U95020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">U95020</a>) to map the gene encoding the beta-4 isoform of the regulatory beta subunit of voltage-activated Ca(2+) channels, CACNB4, to 2q22-q23 by fluorescence in situ hybridization. CACNB4 is a member of the voltage-gated calcium channel gene superfamily; see also CACNB1 (<a href="/entry/114207">114207</a>). <a href="#2" class="mim-tip-reference" title="Betz, R., Leibiger, B., Farnebo, F., Lagercrantz, S., Piehl, F., Leibiger, I., Larsson, C. <strong>Mapping of the human Ca(2+) channel beta-4 subunit to 2q22-23 and its expression in developing mouse.</strong> Mammalian Genome 9: 310-311, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9530629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9530629</a>] [<a href="https://doi.org/10.1007/s003359900755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9530629">Betz et al. (1998)</a> likewise mapped the CACNB4 gene to 2q22-q23. They first screened a panel of somatic cell hybrids by PCR and sublocalized the gene by study of a panel of radiation hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9530629+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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<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Biochemical Features</strong>
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<p>To elucidate the molecular mechanism of the interaction between calcium channel alpha-1 (see <a href="/entry/601011">601011</a>) and beta subunits, <a href="#4" class="mim-tip-reference" title="Chen, Y., Li, M., Zhang, Y., He, L., Yamada, Y., Fitzmaurice, A., Shen, Y., Zhang, H., Tong, L., Yang, J. <strong>Structural basis of the alpha-1-beta subunit interaction of voltage-gated Ca(2+) channels.</strong> Nature 429: 675-680, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15170217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15170217</a>] [<a href="https://doi.org/10.1038/nature02641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15170217">Chen et al. (2004)</a> determined the crystal structures of the conserved core region of beta-3 (CACNB3; <a href="/entry/601958">601958</a>), alone and in complex with the alpha-interaction domain (AID), and of beta-4 (CACNB4) alone. The structures showed that the beta subunit core contains 2 interacting domains: a Src homology-3 (SH3) domain and a guanylate kinase domain. The AID binds to a hydrophobic groove in the guanylate kinase domain through extensive interactions, conferring extremely high affinity between alpha-1 and beta subunits. The beta-interaction domain (BID) is essential both for the structural integrity of and for bridging the SH3 and guanylate kinase domains, but it does not participate directly in binding alpha-1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15170217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>Inactivation of the Cacnb4 gene in the mouse neurologic mutant 'lethargic' results in a complex neurologic disorder that includes absence epilepsy and ataxia. To determine the role of this gene in related human disorders, <a href="#6" class="mim-tip-reference" title="Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H. <strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong> Am. J. Hum. Genet. 66: 1531-1539, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762541</a>] [<a href="https://doi.org/10.1086/302909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10762541">Escayg et al. (2000)</a> screened for mutations in small pedigrees with familial epilepsy and ataxia. A premature-termination mutation, arg482 to ter (R482X; <a href="#0001">601949.0001</a>), was identified in a patient with juvenile myoclonic epilepsy (EJM6; see <a href="/entry/607682">607682</a>). The R482X protein lacks the 38 C-terminal amino acids containing part of an interaction domain for the alpha-1 subunit. A cys104-to-phe (C104F; <a href="#0002">601949.0002</a>) mutation was identified both in a German family with idiopathic generalized epilepsy and praxis-induced seizures (EIG9; <a href="/entry/607682">607682</a>), and in a French Canadian family with episodic ataxia type 5 (EA5; <a href="/entry/613855">613855</a>). The results of functional tests of the truncated protein R482X in Xenopus laevis oocytes demonstrated a small decrease in the fast time constant for inactivation of the cotransfected alpha-1 subunit. <a href="#6" class="mim-tip-reference" title="Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H. <strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong> Am. J. Hum. Genet. 66: 1531-1539, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762541</a>] [<a href="https://doi.org/10.1086/302909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10762541">Escayg et al. (2000)</a> also described 2 noncoding single-nucleotide substitutions that are present at polymorphic frequency, and a previously unrecognized first intron of CACNB4 that interrupts exon 1 at codon 21. The total number of families screened was 161: 90 families with idiopathic generalized epilepsy and 71 families with episodic ataxia. The families with epilepsy included 19 families with childhood absence epilepsy, 22 with juvenile absence epilepsy, and 49 with juvenile myoclonic epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The mouse neurologic mutation 'lethargic' arose spontaneously in the mouse inbred strain BALB/cGn in 1962. Homozygotes are recognizable at 15 days of age by ataxia and lethargic behavior followed within a few days by the onset of spontaneous focal motor seizures. A second seizure type, consisting of brief episodes of behavioral immobility, is accompanied by generalized cortical spike-wave discharges. Electrophysiologically and pharmacologically, these seizures resemble the absence seizures of human petit mal epilepsy and those seen in the 'tottering' mouse (see CACNA1A, <a href="/entry/601011">601011</a>). No pathologic changes have been observed in the brain, spinal cord, or muscles of affected lethargic mice. Ca(2+) channel beta subunits regulate voltage-dependent calcium currents through direct interaction with alpha-1 (see <a href="/entry/601011">601011</a>) subunits. The beta- and alpha-1-binding motifs are conserved, and all beta subunits can stimulate current amplitude, voltage dependence, and kinetics when coexpressed with various alpha-1 subunits. <a href="#3" class="mim-tip-reference" title="Burgess, D. L., Jones, J. M., Meisler, M. H., Noebels, J. L. <strong>Mutation of the Ca(2+) channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.</strong> Cell 88: 385-392, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039265</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81877-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9039265">Burgess et al. (1997)</a> used a positional candidate approach to determine that the ataxia and seizures in the lethargic (lh) mouse arise from mutations in the beta-subunit gene (Cchb4) on mouse chromosome 2. A 4-nucleotide insertion into a splice donor site resulted in exon skipping, translational frameshift, and protein truncation with loss of the alpha-1-binding site. The lethargic phenotype was the first example of a mammalian neurologic disease caused by an inherited defect of a nonpore-forming subunit of a voltage-gated ion channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039265" 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 knockin analysis in cultured rat muscle cells and neurons, <a href="#5" class="mim-tip-reference" title="Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E., Kutsche, K. <strong>A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.</strong> PLoS Genet. 16: e1008625, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32176688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32176688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32176688[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/10.1371/journal.pgen.1008625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32176688">Coste de Bagneaux et al. (2020)</a> showed that a homozygous leu125 to pro (L125P) mutation in the beta-4b splice variant of the calcium channel Cacnb4 impaired its association with calcium channel complexes and its nuclear targeting. The L125P mutation did not abrogate complex formation of beta-4b with Ppp2r5d (<a href="/entry/601646">601646</a>), a regulatory subunit of protein phosphatase 2A that contributes to nuclear localization of beta-4b, but it disrupted the interaction with Tnik (<a href="/entry/610005">610005</a>). Moreover, the L125P mutation did not abolish the augmentation of calcium currents by beta-4b, but it prevented the formation of a stable complex between beta-4b and Cacna1a (<a href="/entry/601011">601011</a>), the alpha-1 calcium channel subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32176688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1805032 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1805032;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/rs1805032?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=rs1805032" 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=rs1805032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#6" class="mim-tip-reference" title="Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H. <strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong> Am. J. Hum. Genet. 66: 1531-1539, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762541</a>] [<a href="https://doi.org/10.1086/302909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10762541">Escayg et al. (2000)</a> found an arg482-to-ter (R482X) mutation of the CACNB4 gene in a woman who, beginning at age 9 years, had experienced sporadic typical absences (brief spells of loss of consciousness) and repetitive bilateral myoclonic jerks in the shoulders and arms after awakening, without loss of consciousness. Her epilepsy syndrome was classified as juvenile myoclonic epilepsy (EJM6; see <a href="/entry/607682">607682</a>). She later experienced several generalized tonic-clonic seizures, usually within 1 hour of awakening. EEGs of the proband's daughter showed generalized 3/s spike-wave discharges without epileptic seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762541" 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=RCV000008046 OR RCV000008047 OR RCV000298698 OR RCV000487686 OR RCV001081010 OR RCV004532307" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008046, RCV000008047, RCV000298698, RCV000487686, RCV001081010, RCV004532307" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008046...</a>
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<p><a href="#6" class="mim-tip-reference" title="Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H. <strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong> Am. J. Hum. Genet. 66: 1531-1539, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762541</a>] [<a href="https://doi.org/10.1086/302909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10762541">Escayg et al. (2000)</a> found a cys104-to-phe (C104F) missense mutation in affected members of a German family with generalized epilepsy (EIG9; <a href="/entry/607682">607682</a>) and praxis-induced seizures, and in a French Canadian family with episodic ataxia type 5 (EA5; <a href="/entry/613855">613855</a>). The German family had affected father and son; the French Canadian family had 5 affected individuals in 3 generations. In the German family, the affected father and son presented with an atypical but similar clinical syndrome of idiopathic generalized epilepsy with rare juvenile atypical prolonged absences and occasional generalized tonic-clonic seizures (GTCS). The proband had normal intellectual and psychomotor development. One febrile convulsion occurred at age 3 years. After age 6, he had occasional GTCS, predominantly on awakening, and, after age 12, occasional episodes of absence were described. A prolonged atypical absence occurred in the eldest son at age 14 years, while he was playing cards. At age 17, he experienced GTCS shortly after awakening. Two years later, he experienced a generalized tonic seizure while playing a complex strategic game after sleep withdrawal. He experienced occasional prolonged staring spells when lacking sleep. Both affected individuals reported that seizures were precipitated by playing complex strategic games (praxis induction), suggesting an unusual cognitive trigger of seizure initiation (<a href="#8" class="mim-tip-reference" title="Inoue, Y., Suzuki, S., Watanabe, Y., Yagi, K., Seino, M. <strong>Non-lesional reflex epilepsy evoked by non-verbal higher cerebral activities.</strong> J. Jpn. Epilepsy Soc. 10: 1-9, 1992."None>Inoue et al., 1992</a>). In the French Canadian family with the C104F mutation, the proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. Interictal examination showed spontaneous downbeat and gaze-evoked nystagmus and mild dysarthria and truncal ataxia. The proband's mother had identical episodes of vertigo and ataxia after age 30 years as well as longstanding dysarthria and imbalance. Acetazolamide prevented the attacks in both the proband and the mother, and the attacks recurred when acetazolamide was briefly discontinued. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762541" 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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Science 307: 117-121, 2005. Note: Retraction: Science 310: 1903 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1100582" target="_blank">Full Text</a>]
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<strong>Mapping of the human Ca(2+) channel beta-4 subunit to 2q22-23 and its expression in developing mouse.</strong>
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Mammalian Genome 9: 310-311, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9530629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9530629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9530629" 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/s003359900755" target="_blank">Full Text</a>]
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<strong>Mutation of the Ca(2+) channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.</strong>
|
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Cell 88: 385-392, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039265" 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/s0092-8674(00)81877-2" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Chen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chen, Y., Li, M., Zhang, Y., He, L., Yamada, Y., Fitzmaurice, A., Shen, Y., Zhang, H., Tong, L., Yang, J.
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<strong>Structural basis of the alpha-1-beta subunit interaction of voltage-gated Ca(2+) channels.</strong>
|
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Nature 429: 675-680, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15170217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15170217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15170217" 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/nature02641" 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="Coste de Bagneaux2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E., Kutsche, K.
|
|
<strong>A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.</strong>
|
|
PLoS Genet. 16: e1008625, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32176688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32176688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32176688[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=32176688" 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/10.1371/journal.pgen.1008625" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Escayg2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H.
|
|
<strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong>
|
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Am. J. Hum. Genet. 66: 1531-1539, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762541" 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/10.1086/302909" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Escayg1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Escayg, A., Jones, J. M., Kearney, J. A., Hitchcock, P. F., Meisler, M. H.
|
|
<strong>Calcium channel beta-4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.</strong>
|
|
Genomics 50: 14-22, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5311" 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="Inoue1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Inoue, Y., Suzuki, S., Watanabe, Y., Yagi, K., Seino, M.
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<strong>Non-lesional reflex epilepsy evoked by non-verbal higher cerebral activities.</strong>
|
|
J. Jpn. Epilepsy Soc. 10: 1-9, 1992.
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</p>
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</div>
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</li>
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<li>
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<a id="9" 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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<li>
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<a id="10" 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.
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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: <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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</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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Bao Lige - updated : 07/02/2024
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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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Ada Hamosh - updated : 1/11/2006<br>Cassandra L. Kniffin - updated : 12/20/2005<br>Ada Hamosh - updated : 1/19/2005<br>Ada Hamosh - updated : 7/27/2004<br>Anne M. Stumpf - updated : 7/27/2004<br>Victor A. McKusick - updated : 5/18/2000<br>Victor A. McKusick - updated : 9/8/1998
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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 : 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="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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alopez : 07/02/2024
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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 : 09/09/2016<br>carol : 06/24/2016<br>carol : 3/31/2011<br>carol : 10/6/2009<br>ckniffin : 10/2/2009<br>terry : 1/11/2006<br>carol : 12/22/2005<br>ckniffin : 12/20/2005<br>wwang : 2/1/2005<br>wwang : 1/27/2005<br>terry : 1/19/2005<br>alopez : 7/27/2004<br>alopez : 7/27/2004<br>alopez : 7/27/2004<br>ckniffin : 4/9/2003<br>carol : 2/26/2001<br>mcapotos : 6/7/2000<br>mcapotos : 5/31/2000<br>terry : 5/18/2000<br>alopez : 9/9/1998<br>carol : 9/8/1998<br>carol : 6/10/1998<br>mark : 8/26/1997
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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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</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> 601949
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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>
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<span class="mim-font">
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CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: CACNB4</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>SNOMEDCT:</strong> 718756005;
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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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<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: 2q23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:151,832,771-152,099,167 </span>
|
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</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">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed 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="3">
|
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<span class="mim-font">
|
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2q23.3
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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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?Episodic ataxia, type 5
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
613855
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
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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<tr>
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<td>
|
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<span class="mim-font">
|
|
{Epilepsy, idiopathic generalized, susceptibility to, 9}
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
607682
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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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<tr>
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<td>
|
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<span class="mim-font">
|
|
{Epilepsy, juvenile myoclonic, susceptibility to, 6}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607682
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</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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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By amplification of human cerebellar RNA using primer pairs complementary to the rat beta-4 cDNA, followed by database searching with a rat Cacnb4 cDNA sequence, Escayg et al. (1998) identified the full-length human CACNB4 sequence. The 1,560-bp open reading frame predicts a 58-kD, 520-amino acid protein that is 99% identical to the rat protein. Northern blot analysis of human cerebellar RNA demonstrated 1 major 9-kb CACNB4 transcript. RT-PCR of total RNA detected expression in cerebellum, kidney, testis, retina, lymphoblasts, and circulating lymphocytes. In situ hybridization to mouse retina sections localized Cacnb4 expression to the ganglion cell and inner nuclear layers. </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>Lory et al. (1997) suggested 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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Escayg et al. (1998) determined that the CACNB4 gene contains 13 coding exons distributed over more than 55 kb of genomic DNA. </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 cDNA probe covering the 3-prime end of the human beta-4 gene (see GenBank U95020) to map the gene encoding the beta-4 isoform of the regulatory beta subunit of voltage-activated Ca(2+) channels, CACNB4, to 2q22-q23 by fluorescence in situ hybridization. CACNB4 is a member of the voltage-gated calcium channel gene superfamily; see also CACNB1 (114207). Betz et al. (1998) likewise mapped the CACNB4 gene to 2q22-q23. They first screened a panel of somatic cell hybrids by PCR and sublocalized the gene by study of a panel of radiation hybrids. </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>To elucidate the molecular mechanism of the interaction between calcium channel alpha-1 (see 601011) and beta subunits, Chen et al. (2004) determined the crystal structures of the conserved core region of beta-3 (CACNB3; 601958), alone and in complex with the alpha-interaction domain (AID), and of beta-4 (CACNB4) alone. The structures showed that the beta subunit core contains 2 interacting domains: a Src homology-3 (SH3) domain and a guanylate kinase domain. The AID binds to a hydrophobic groove in the guanylate kinase domain through extensive interactions, conferring extremely high affinity between alpha-1 and beta subunits. The beta-interaction domain (BID) is essential both for the structural integrity of and for bridging the SH3 and guanylate kinase domains, but it does not participate directly in binding alpha-1. </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>Inactivation of the Cacnb4 gene in the mouse neurologic mutant 'lethargic' results in a complex neurologic disorder that includes absence epilepsy and ataxia. To determine the role of this gene in related human disorders, Escayg et al. (2000) screened for mutations in small pedigrees with familial epilepsy and ataxia. A premature-termination mutation, arg482 to ter (R482X; 601949.0001), was identified in a patient with juvenile myoclonic epilepsy (EJM6; see 607682). The R482X protein lacks the 38 C-terminal amino acids containing part of an interaction domain for the alpha-1 subunit. A cys104-to-phe (C104F; 601949.0002) mutation was identified both in a German family with idiopathic generalized epilepsy and praxis-induced seizures (EIG9; 607682), and in a French Canadian family with episodic ataxia type 5 (EA5; 613855). The results of functional tests of the truncated protein R482X in Xenopus laevis oocytes demonstrated a small decrease in the fast time constant for inactivation of the cotransfected alpha-1 subunit. Escayg et al. (2000) also described 2 noncoding single-nucleotide substitutions that are present at polymorphic frequency, and a previously unrecognized first intron of CACNB4 that interrupts exon 1 at codon 21. The total number of families screened was 161: 90 families with idiopathic generalized epilepsy and 71 families with episodic ataxia. The families with epilepsy included 19 families with childhood absence epilepsy, 22 with juvenile absence epilepsy, and 49 with juvenile myoclonic epilepsy. </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>Animal Model</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>The mouse neurologic mutation 'lethargic' arose spontaneously in the mouse inbred strain BALB/cGn in 1962. Homozygotes are recognizable at 15 days of age by ataxia and lethargic behavior followed within a few days by the onset of spontaneous focal motor seizures. A second seizure type, consisting of brief episodes of behavioral immobility, is accompanied by generalized cortical spike-wave discharges. Electrophysiologically and pharmacologically, these seizures resemble the absence seizures of human petit mal epilepsy and those seen in the 'tottering' mouse (see CACNA1A, 601011). No pathologic changes have been observed in the brain, spinal cord, or muscles of affected lethargic mice. Ca(2+) channel beta subunits regulate voltage-dependent calcium currents through direct interaction with alpha-1 (see 601011) subunits. The beta- and alpha-1-binding motifs are conserved, and all beta subunits can stimulate current amplitude, voltage dependence, and kinetics when coexpressed with various alpha-1 subunits. Burgess et al. (1997) used a positional candidate approach to determine that the ataxia and seizures in the lethargic (lh) mouse arise from mutations in the beta-subunit gene (Cchb4) on mouse chromosome 2. A 4-nucleotide insertion into a splice donor site resulted in exon skipping, translational frameshift, and protein truncation with loss of the alpha-1-binding site. The lethargic phenotype was the first example of a mammalian neurologic disease caused by an inherited defect of a nonpore-forming subunit of a voltage-gated ion channel. </p><p>By knockin analysis in cultured rat muscle cells and neurons, Coste de Bagneaux et al. (2020) showed that a homozygous leu125 to pro (L125P) mutation in the beta-4b splice variant of the calcium channel Cacnb4 impaired its association with calcium channel complexes and its nuclear targeting. The L125P mutation did not abrogate complex formation of beta-4b with Ppp2r5d (601646), a regulatory subunit of protein phosphatase 2A that contributes to nuclear localization of beta-4b, but it disrupted the interaction with Tnik (610005). Moreover, the L125P mutation did not abolish the augmentation of calcium currents by beta-4b, but it prevented the formation of a stable complex between beta-4b and Cacna1a (601011), the alpha-1 calcium channel subunit. </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>History</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>The report by Badou et al. (2005) on the requirement of CACNB4 for T-lymphocyte functions was retracted. </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 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6</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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CACNB4, ARG482TER
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<br />
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SNP: rs1805032,
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gnomAD: rs1805032,
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ClinVar: RCV000008045
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Escayg et al. (2000) found an arg482-to-ter (R482X) mutation of the CACNB4 gene in a woman who, beginning at age 9 years, had experienced sporadic typical absences (brief spells of loss of consciousness) and repetitive bilateral myoclonic jerks in the shoulders and arms after awakening, without loss of consciousness. Her epilepsy syndrome was classified as juvenile myoclonic epilepsy (EJM6; see 607682). She later experienced several generalized tonic-clonic seizures, usually within 1 hour of awakening. EEGs of the proband's daughter showed generalized 3/s spike-wave discharges without epileptic seizures. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9</strong>
|
|
</span>
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</h4>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
EPISODIC ATAXIA, TYPE 5, INCLUDED
|
|
</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
CACNB4, CYS104PHE
|
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|
|
<br />
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|
|
SNP: rs1805031,
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|
|
gnomAD: rs1805031,
|
|
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|
|
ClinVar: RCV000008046, RCV000008047, RCV000298698, RCV000487686, RCV001081010, RCV004532307
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Escayg et al. (2000) found a cys104-to-phe (C104F) missense mutation in affected members of a German family with generalized epilepsy (EIG9; 607682) and praxis-induced seizures, and in a French Canadian family with episodic ataxia type 5 (EA5; 613855). The German family had affected father and son; the French Canadian family had 5 affected individuals in 3 generations. In the German family, the affected father and son presented with an atypical but similar clinical syndrome of idiopathic generalized epilepsy with rare juvenile atypical prolonged absences and occasional generalized tonic-clonic seizures (GTCS). The proband had normal intellectual and psychomotor development. One febrile convulsion occurred at age 3 years. After age 6, he had occasional GTCS, predominantly on awakening, and, after age 12, occasional episodes of absence were described. A prolonged atypical absence occurred in the eldest son at age 14 years, while he was playing cards. At age 17, he experienced GTCS shortly after awakening. Two years later, he experienced a generalized tonic seizure while playing a complex strategic game after sleep withdrawal. He experienced occasional prolonged staring spells when lacking sleep. Both affected individuals reported that seizures were precipitated by playing complex strategic games (praxis induction), suggesting an unusual cognitive trigger of seizure initiation (Inoue et al., 1992). In the French Canadian family with the C104F mutation, the proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. Interictal examination showed spontaneous downbeat and gaze-evoked nystagmus and mild dysarthria and truncal ataxia. The proband's mother had identical episodes of vertigo and ataxia after age 30 years as well as longstanding dysarthria and imbalance. Acetazolamide prevented the attacks in both the proband and the mother, and the attacks recurred when acetazolamide was briefly discontinued. </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>
|
|
<span class="mim-font">
|
|
<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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Badou, A., Basavappa, S., Desai, R., Peng, Y.-Q., Matza, D., Mehal, W. Z., Kaczmarek, L. K., Boulpaep, E. L., Flavell, R. A.
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|
<strong>Requirement of voltage-gated calcium channel beta-4 subunit for T lymphocyte functions.</strong>
|
|
Science 307: 117-121, 2005. Note: Retraction: Science 310: 1903 only, 2005.
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[PubMed: 15637280]
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[Full Text: https://doi.org/10.1126/science.1100582]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Betz, R., Leibiger, B., Farnebo, F., Lagercrantz, S., Piehl, F., Leibiger, I., Larsson, C.
|
|
<strong>Mapping of the human Ca(2+) channel beta-4 subunit to 2q22-23 and its expression in developing mouse.</strong>
|
|
Mammalian Genome 9: 310-311, 1998.
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[PubMed: 9530629]
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[Full Text: https://doi.org/10.1007/s003359900755]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Burgess, D. L., Jones, J. M., Meisler, M. H., Noebels, J. L.
|
|
<strong>Mutation of the Ca(2+) channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.</strong>
|
|
Cell 88: 385-392, 1997.
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[PubMed: 9039265]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)81877-2]
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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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Chen, Y., Li, M., Zhang, Y., He, L., Yamada, Y., Fitzmaurice, A., Shen, Y., Zhang, H., Tong, L., Yang, J.
|
|
<strong>Structural basis of the alpha-1-beta subunit interaction of voltage-gated Ca(2+) channels.</strong>
|
|
Nature 429: 675-680, 2004.
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[PubMed: 15170217]
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[Full Text: https://doi.org/10.1038/nature02641]
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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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Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E., Kutsche, K.
|
|
<strong>A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.</strong>
|
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PLoS Genet. 16: e1008625, 2020.
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[PubMed: 32176688]
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[Full Text: https://doi.org/10.1371/journal.pgen.1008625]
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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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Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M. H.
|
|
<strong>Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.</strong>
|
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Am. J. Hum. Genet. 66: 1531-1539, 2000.
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[PubMed: 10762541]
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[Full Text: https://doi.org/10.1086/302909]
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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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Escayg, A., Jones, J. M., Kearney, J. A., Hitchcock, P. F., Meisler, M. H.
|
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<strong>Calcium channel beta-4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.</strong>
|
|
Genomics 50: 14-22, 1998.
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[PubMed: 9628818]
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[Full Text: https://doi.org/10.1006/geno.1998.5311]
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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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Inoue, Y., Suzuki, S., Watanabe, Y., Yagi, K., Seino, M.
|
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<strong>Non-lesional reflex epilepsy evoked by non-verbal higher cerebral activities.</strong>
|
|
J. Jpn. Epilepsy Soc. 10: 1-9, 1992.
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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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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: 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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</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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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 07/02/2024<br>Ada Hamosh - updated : 1/11/2006<br>Cassandra L. Kniffin - updated : 12/20/2005<br>Ada Hamosh - updated : 1/19/2005<br>Ada Hamosh - updated : 7/27/2004<br>Anne M. Stumpf - updated : 7/27/2004<br>Victor A. McKusick - updated : 5/18/2000<br>Victor A. McKusick - updated : 9/8/1998
|
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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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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</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 : 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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<br />
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</div>
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