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<title>
Entry
- *608256 - SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 4; SCN4B
- OMIM
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<span class="h4">*608256</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Genome
</a>
</span>
</span>
</div>
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000177098;t=ENST00000324727" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=6330" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608256" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
<span class="panel-title">
<span class="small">
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> DNA
</a>
</span>
</span>
</div>
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000177098;t=ENST00000324727" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001142348,NM_001142349,NM_174934,NR_024527" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_174934" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608256" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
<span class="panel-title">
<span class="small">
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Protein
</a>
</span>
</span>
</div>
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://hprd.org/summary?hprd_id=09749&isoform_id=09749_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>
<div><a href="https://www.proteinatlas.org/search/SCN4B" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/protein/27465047,28372555,34190843,57012701,119587755,119587756,167887702,189069457,215272332,215272334" 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>
<div><a href="https://www.uniprot.org/uniprotkb/Q8IWT1" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
<span class="panel-title">
<span class="small">
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Gene Info</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="http://biogps.org/#goto=genereport&id=6330" 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>
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000177098;t=ENST00000324727" 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>
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN4B" 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>
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SCN4B" 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>
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+6330" 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>
<dd><a href="http://v1.marrvel.org/search/gene/SCN4B" 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>
<dd><a href="https://monarchinitiative.org/NCBIGene:6330" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/6330" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000324727.9&hgg_start=118133377&hgg_end=118152823&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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10592" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608256[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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
<span class="panel-title">
<span class="small">
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9660;</span> Variation
</a>
</span>
</span>
</div>
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608256[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>
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000177098" 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>
<div><a href="https://www.ebi.ac.uk/gwas/search?query=SCN4B" 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&nbsp;</a></div>
<div><a href="https://www.gwascentral.org/search?q=SCN4B" 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&nbsp;</a></div>
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SCN4B" 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>
<div><a href="http://databases.lovd.nl/genomed/home.php?select_db=SCN4B" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SCN4B&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>
<div><a href="https://www.pharmgkb.org/gene/PA35007" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/gene/HGNC:10592" 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>
<div><a href="https://www.mousephenotype.org/data/genes/MGI:2687406" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
<div><a href="http://v1.marrvel.org/search/gene/SCN4B#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>
<div><a href="http://www.informatics.jax.org/marker/MGI:2687406" 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>
<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>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/6330/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>
<div><a href="https://www.orthodb.org/?ncbi=6330" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
<div><a href="https://zfin.org/ZDB-GENE-031116-71" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
<span class="panel-title">
<span class="small">
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cellular Pathways</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6330" 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>
<div><a href="https://reactome.org/content/query?q=SCN4B&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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
608256
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 4; SCN4B
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="approvedGeneSymbols" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SCN4B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SCN4B</a></em></strong>
</span>
</p>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/11/976?start=-3&limit=10&highlight=976">11q23.3</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:118133377-118152823&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'})">11:118,133,377-118,152,823</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<a id="geneMap" class="mim-anchor"></a>
<div style="margin-bottom: 10px;">
<span class="h4 mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</div>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="2">
<span class="mim-font">
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976">
11q23.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Atrial fibrillation, familial, 17
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Long QT syndrome 10
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<p>Sodium channel beta subunits, such as SCN4B, are auxiliary subunits that alter the channel kinetics of voltage-gated alpha subunits (see <a href="/entry/182389">182389</a>).</p>
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<p>By searching EST databases for sequences similar to voltage-gated beta subunits, <a href="#4" class="mim-tip-reference" title="Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R. &lt;strong&gt;Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.&lt;/strong&gt; J. Neurosci. 23: 7577-7585, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12930796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12930796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12930796">Yu et al. (2003)</a> identified SCN4B. The deduced 228-amino acid protein has a calculated molecular mass of about 22 kD. SCN4B has an N-terminal signal peptide, a large extracellular domain predicted to form an Ig-like fold, a single transmembrane alpha helix, and a short cytoplasmic C terminus. Two conserved cysteines likely form an intramolecular disulfide bond that stabilizes the large extracellular domain, and an unpaired cysteine likely forms a disulfide linkage with the alpha subunit. SCN4B shares 35% amino acid identity with SCN2B (<a href="/entry/601327">601327</a>) and 20 to 22% identity with SCN1B (<a href="/entry/600235">600235</a>) and SCN3B (<a href="/entry/608214">608214</a>). SCN4B shares 80% amino acid identity with rat and mouse Scn4b. Quantitative RT-PCR analysis, in situ hybridization, and immunocytochemical analysis of rat tissues detected wide expression of Scn4b in neurons in the brain and spinal cord and in some sensory neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12930796" 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 quantitative PCR analysis, <a href="#3" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. &lt;strong&gt;Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.&lt;/strong&gt; Cardiovasc. Res. 89: 786-793, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21051419/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21051419&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/cvr/cvq348&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21051419">Olesen et al. (2011)</a> demonstrated expression of SCN4B in human atria and ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By Western blot analysis of proteins separated under nonreducing conditions, <a href="#4" class="mim-tip-reference" title="Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R. &lt;strong&gt;Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.&lt;/strong&gt; J. Neurosci. 23: 7577-7585, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12930796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12930796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12930796">Yu et al. (2003)</a> found that SCN4B had an apparent molecular mass of more than 250 kD due to covalent linkage with a cotransfected alpha subunit, SCN2A (<a href="/entry/182390">182390</a>). Under reducing conditions, the apparent molecular mass was 38 kD, similar to the masses of the mature glycosylated forms of other beta subunits. Whole-cell recording of sodium currents in cotransfected embryonic kidney cells indicated that SCN4B could alter the channel properties of SCN2A and shift the voltage dependence of activation in the hyperpolarizing direction without altering the voltage dependence of inactivation. Coexpression of SCN4B with skeletal muscle SCN4A (<a href="/entry/603967">603967</a>) caused a modest negative shift in the voltage dependence of activation with little or no effect on the voltage dependence of inactivation. SCN4B had little effect on the channel kinetics of cardiac SCN5A (<a href="/entry/600163">600163</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12930796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R. &lt;strong&gt;Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.&lt;/strong&gt; J. Neurosci. 23: 7577-7585, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12930796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12930796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12930796">Yu et al. (2003)</a> determined that the SCN4B gene contains 5 exons and spans 19.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12930796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R. &lt;strong&gt;Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.&lt;/strong&gt; J. Neurosci. 23: 7577-7585, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12930796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12930796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12930796">Yu et al. (2003)</a> mapped the SCN4B gene to chromosome 11q23, about 12.5 kb downstream of the SCN2B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12930796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a 4-generation Mexican mestizo family with long QT syndrome (LQT10; <a href="/entry/611819">611819</a>) who were negative for mutation in the 9 known LQTS genes (see LQT1, <a href="/entry/192500">192500</a>), <a href="#2" class="mim-tip-reference" title="Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J. &lt;strong&gt;SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome.&lt;/strong&gt; Circulation 116: 134-142, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17592081/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17592081&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17592081[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCULATIONAHA.106.659086&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17592081">Medeiros-Domingo et al. (2007)</a> identified a heterozygous missense mutation in the SCN4B gene (L179F; <a href="#0001">608256.0001</a>). The mutation segregated with the phenotype with incomplete penetrance, but was not found in 800 control alleles, 400 of which were ethnically matched. Studies in HEK293 cells demonstrated that the mutant channel caused an 8-fold increase in late sodium current compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17592081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Han Chinese families segregating autosomal dominant atrial fibrillation (ATFB17; see <a href="/entry/611819">611819</a>), <a href="#1" class="mim-tip-reference" title="Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. &lt;strong&gt;Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation.&lt;/strong&gt; Int. J. Molec. Med. 32: 144-150, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23604097/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23604097&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3892/ijmm.2013.1355&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23604097">Li et al. (2013)</a> identified heterozygosity for 2 different missense mutations in the SCN4B gene, V162G (<a href="#0002">608256.0002</a>) and I166L (<a href="#0003">608256.0003</a>), respectively. The mutations, which segregated with disease in each of the families, were not found in 200 ethnically matched controls. In the family with the V162G mutation, all 3 individuals with atrial fibrillation also had corrected QT intervals that met the criteria for long QT syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23604097" 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>.0001&nbsp;LONG QT SYNDROME 10</strong>
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SCN4B, LEU179PHE
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<p>In affected members of a 4-generation Mexican mestizo family with a history of sudden death and long QT syndrome (LQT10; <a href="/entry/611819">611819</a>) who were negative for mutation in the 9 known LQTS genes (see LQT1; <a href="/entry/192500">192500</a>), <a href="#2" class="mim-tip-reference" title="Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J. &lt;strong&gt;SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome.&lt;/strong&gt; Circulation 116: 134-142, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17592081/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17592081&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17592081[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCULATIONAHA.106.659086&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17592081">Medeiros-Domingo et al. (2007)</a> identified a heterozygous 535C-T transition in the SCN4B gene, resulting in a leu179-to-phe (L179F) substitution at a conserved residue. The mutation segregated with the phenotype with incomplete penetrance, but was not found in 800 control alleles, 400 of which were ethnically matched. Studies in transiently transfected HEK293 cells demonstrated that the mutant channel caused an 8-fold increase in late sodium current compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17592081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002&nbsp;ATRIAL FIBRILLATION, FAMILIAL, 17</strong>
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SCN4B, VAL162GLY
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777559 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777559;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777559" 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=rs587777559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128816</a>
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<p>In a Han Chinese mother and 2 sons with atrial fibrillation (ATFB17; see <a href="/entry/611819">611819</a>), <a href="#1" class="mim-tip-reference" title="Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. &lt;strong&gt;Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation.&lt;/strong&gt; Int. J. Molec. Med. 32: 144-150, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23604097/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23604097&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3892/ijmm.2013.1355&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23604097">Li et al. (2013)</a> identified heterozygosity for a c.485T-G transversion in the SCN4B gene, resulting in a val162-to-gly (V162G) substitution at a highly conserved residue. The mutation was not found in unaffected family members, in 200 ethnically matched controls, or in the dbSNP database. All 3 affected individuals also had prolonged corrected QT intervals that fulfilled the criteria for long QT syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23604097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003&nbsp;ATRIAL FIBRILLATION, FAMILIAL, 17</strong>
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SCN4B, ILE166LEU
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</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777560;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777560" 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=rs587777560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128817" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128817" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128817</a>
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<p>In 3 affected individuals over 3 generations of a Han Chinese family with atrial fibrillation (ATFB17; see <a href="/entry/611819">611819</a>), <a href="#1" class="mim-tip-reference" title="Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. &lt;strong&gt;Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation.&lt;/strong&gt; Int. J. Molec. Med. 32: 144-150, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23604097/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23604097&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3892/ijmm.2013.1355&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23604097">Li et al. (2013)</a> identified heterozygosity for a c.496A-C transversion in the SCN4B gene, resulting in an ile166-to-leu (I166L) substitution at a highly conserved residue. The mutation was not found in unaffected family members, in 200 ethnically matched controls, or in the dbSNP database. Corrected QT intervals were within the normal range in affected members of this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23604097" 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 id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Li2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q.
<strong>Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation.</strong>
Int. J. Molec. Med. 32: 144-150, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23604097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23604097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23604097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3892/ijmm.2013.1355" target="_blank">Full Text</a>]
</p>
</div>
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<a id="2" class="mim-anchor"></a>
<a id="Medeiros-Domingo2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J.
<strong>SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome.</strong>
Circulation 116: 134-142, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17592081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17592081</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17592081[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=17592081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.659086" target="_blank">Full Text</a>]
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<a id="Olesen2011" class="mim-anchor"></a>
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Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H.
<strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong>
Cardiovasc. Res. 89: 786-793, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank">Full Text</a>]
</p>
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<a id="Yu2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R.
<strong>Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.</strong>
J. Neurosci. 23: 7577-7585, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12930796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12930796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12930796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
Marla J. F. O'Neill - updated : 7/22/2014
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<span class="mim-text-font">
Marla J. F. O'Neill - updated : 7/22/2014<br>Marla J. F. O'Neill - updated : 2/12/2008
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<span class="mim-text-font">
Patricia A. Hartz : 11/13/2003
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
carol : 09/01/2020
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alopez : 07/23/2014<br>carol : 7/23/2014<br>mcolton : 7/22/2014<br>mcolton : 7/22/2014<br>wwang : 2/26/2008<br>terry : 2/12/2008<br>mgross : 11/13/2003
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<strong>*</strong> 608256
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<span class="mim-font">
SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 4; SCN4B
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT
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<strong><em>HGNC Approved Gene Symbol: SCN4B</em></strong>
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<strong>
<em>
Cytogenetic location: 11q23.3
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 11:118,133,377-118,152,823 </span>
</em>
</strong>
<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
11q23.3
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Atrial fibrillation, familial, 17
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<span class="mim-font">
611819
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Autosomal dominant
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3
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Long QT syndrome 10
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611819
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Sodium channel beta subunits, such as SCN4B, are auxiliary subunits that alter the channel kinetics of voltage-gated alpha subunits (see 182389).</p>
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<strong>Cloning and Expression</strong>
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<p>By searching EST databases for sequences similar to voltage-gated beta subunits, Yu et al. (2003) identified SCN4B. The deduced 228-amino acid protein has a calculated molecular mass of about 22 kD. SCN4B has an N-terminal signal peptide, a large extracellular domain predicted to form an Ig-like fold, a single transmembrane alpha helix, and a short cytoplasmic C terminus. Two conserved cysteines likely form an intramolecular disulfide bond that stabilizes the large extracellular domain, and an unpaired cysteine likely forms a disulfide linkage with the alpha subunit. SCN4B shares 35% amino acid identity with SCN2B (601327) and 20 to 22% identity with SCN1B (600235) and SCN3B (608214). SCN4B shares 80% amino acid identity with rat and mouse Scn4b. Quantitative RT-PCR analysis, in situ hybridization, and immunocytochemical analysis of rat tissues detected wide expression of Scn4b in neurons in the brain and spinal cord and in some sensory neurons. </p><p>By quantitative PCR analysis, Olesen et al. (2011) demonstrated expression of SCN4B in human atria and ventricles. </p>
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<strong>Gene Function</strong>
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<p>By Western blot analysis of proteins separated under nonreducing conditions, Yu et al. (2003) found that SCN4B had an apparent molecular mass of more than 250 kD due to covalent linkage with a cotransfected alpha subunit, SCN2A (182390). Under reducing conditions, the apparent molecular mass was 38 kD, similar to the masses of the mature glycosylated forms of other beta subunits. Whole-cell recording of sodium currents in cotransfected embryonic kidney cells indicated that SCN4B could alter the channel properties of SCN2A and shift the voltage dependence of activation in the hyperpolarizing direction without altering the voltage dependence of inactivation. Coexpression of SCN4B with skeletal muscle SCN4A (603967) caused a modest negative shift in the voltage dependence of activation with little or no effect on the voltage dependence of inactivation. SCN4B had little effect on the channel kinetics of cardiac SCN5A (600163). </p>
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<span class="mim-font">
<strong>Gene Structure</strong>
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<p>Yu et al. (2003) determined that the SCN4B gene contains 5 exons and spans 19.5 kb. </p>
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<span class="mim-font">
<strong>Mapping</strong>
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<p>By genomic sequence analysis, Yu et al. (2003) mapped the SCN4B gene to chromosome 11q23, about 12.5 kb downstream of the SCN2B gene. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected members of a 4-generation Mexican mestizo family with long QT syndrome (LQT10; 611819) who were negative for mutation in the 9 known LQTS genes (see LQT1, 192500), Medeiros-Domingo et al. (2007) identified a heterozygous missense mutation in the SCN4B gene (L179F; 608256.0001). The mutation segregated with the phenotype with incomplete penetrance, but was not found in 800 control alleles, 400 of which were ethnically matched. Studies in HEK293 cells demonstrated that the mutant channel caused an 8-fold increase in late sodium current compared to wildtype. </p><p>In 2 Han Chinese families segregating autosomal dominant atrial fibrillation (ATFB17; see 611819), Li et al. (2013) identified heterozygosity for 2 different missense mutations in the SCN4B gene, V162G (608256.0002) and I166L (608256.0003), respectively. The mutations, which segregated with disease in each of the families, were not found in 200 ethnically matched controls. In the family with the V162G mutation, all 3 individuals with atrial fibrillation also had corrected QT intervals that met the criteria for long QT syndrome. </p>
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<h4>
<span class="mim-font">
<strong>ALLELIC VARIANTS</strong>
</span>
<strong>3 Selected Examples):</strong>
</span>
</h4>
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<p />
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<span class="mim-font">
<strong>.0001 &nbsp; LONG QT SYNDROME 10</strong>
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<span class="mim-text-font">
SCN4B, LEU179PHE
<br />
SNP: rs121434386,
ClinVar: RCV000002563
</span>
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<div>
<span class="mim-text-font">
<p>In affected members of a 4-generation Mexican mestizo family with a history of sudden death and long QT syndrome (LQT10; 611819) who were negative for mutation in the 9 known LQTS genes (see LQT1; 192500), Medeiros-Domingo et al. (2007) identified a heterozygous 535C-T transition in the SCN4B gene, resulting in a leu179-to-phe (L179F) substitution at a conserved residue. The mutation segregated with the phenotype with incomplete penetrance, but was not found in 800 control alleles, 400 of which were ethnically matched. Studies in transiently transfected HEK293 cells demonstrated that the mutant channel caused an 8-fold increase in late sodium current compared to wildtype. </p>
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<strong>.0002 &nbsp; ATRIAL FIBRILLATION, FAMILIAL, 17</strong>
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</h4>
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<div>
<span class="mim-text-font">
SCN4B, VAL162GLY
<br />
SNP: rs587777559,
ClinVar: RCV000128816
</span>
</div>
<div>
<span class="mim-text-font">
<p>In a Han Chinese mother and 2 sons with atrial fibrillation (ATFB17; see 611819), Li et al. (2013) identified heterozygosity for a c.485T-G transversion in the SCN4B gene, resulting in a val162-to-gly (V162G) substitution at a highly conserved residue. The mutation was not found in unaffected family members, in 200 ethnically matched controls, or in the dbSNP database. All 3 affected individuals also had prolonged corrected QT intervals that fulfilled the criteria for long QT syndrome. </p>
</span>
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<strong>.0003 &nbsp; ATRIAL FIBRILLATION, FAMILIAL, 17</strong>
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<span class="mim-text-font">
SCN4B, ILE166LEU
<br />
SNP: rs587777560,
ClinVar: RCV000128817
</span>
</div>
<div>
<span class="mim-text-font">
<p>In 3 affected individuals over 3 generations of a Han Chinese family with atrial fibrillation (ATFB17; see 611819), Li et al. (2013) identified heterozygosity for a c.496A-C transversion in the SCN4B gene, resulting in an ile166-to-leu (I166L) substitution at a highly conserved residue. The mutation was not found in unaffected family members, in 200 ethnically matched controls, or in the dbSNP database. Corrected QT intervals were within the normal range in affected members of this family. </p>
</span>
</div>
<div>
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</div>
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</div>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q.
<strong>Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation.</strong>
Int. J. Molec. Med. 32: 144-150, 2013.
[PubMed: 23604097]
[Full Text: https://doi.org/10.3892/ijmm.2013.1355]
</p>
</li>
<li>
<p class="mim-text-font">
Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J.
<strong>SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome.</strong>
Circulation 116: 134-142, 2007.
[PubMed: 17592081]
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.106.659086]
</p>
</li>
<li>
<p class="mim-text-font">
Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H.
<strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong>
Cardiovasc. Res. 89: 786-793, 2011.
[PubMed: 21051419]
[Full Text: https://doi.org/10.1093/cvr/cvq348]
</p>
</li>
<li>
<p class="mim-text-font">
Yu, F. H., Westenbroek, R. E., Silos-Santiago, I., McCormick, K. A., Lawson, D., Ge, P., Ferriera, H., Lilly, J., DiStefano, P. S., Catterall, W. A., Scheuer, T., Curtis, R.
<strong>Sodium channel beta-4, a new disulfide-linked auxiliary subunit with similarity to beta-2.</strong>
J. Neurosci. 23: 7577-7585, 2003.
[PubMed: 12930796]
[Full Text: https://doi.org/10.1523/JNEUROSCI.23-20-07577.2003]
</p>
</li>
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Marla J. F. O&#x27;Neill - updated : 7/22/2014<br>Marla J. F. O&#x27;Neill - updated : 7/22/2014<br>Marla J. F. O&#x27;Neill - updated : 2/12/2008
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