2472 lines
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Entry
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- *605410 - POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2
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- OMIM
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<p>
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<span class="h4">*605410</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605410">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div 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=ENSG00000184408;t=ENST00000331113" 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=3751" 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=605410" 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=ENSG00000184408;t=ENST00000331113" 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_012281,XM_047420346" 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_012281" 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=605410" 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=09254&isoform_id=09254_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/KCND2" 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/3980530,4530478,5814288,6006517,7648673,9789987,38258257,41473939,51095107,83405491,83405879,119603947,929654238,2217367054,2462614279" 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/Q9NZV8" 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=3751" 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=ENSG00000184408;t=ENST00000331113" 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=KCND2" 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=KCND2" 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+3751" 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/KCND2" 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:3751" 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/3751" 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=chr7&hgg_gene=ENST00000331113.9&hgg_start=120272908&hgg_end=120750337&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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605410[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 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="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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<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=605410[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/KCND2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000184408" 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=KCND2" 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=KCND2" 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=KCND2" 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=KCND2&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/PA30030" 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 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 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:6238" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0005564.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102663" 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/KCND2#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:102663" 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/3751/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=3751" 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=WBGene00022240;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-041210-70" 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 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:3751" 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=KCND2&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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<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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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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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605410
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</span>
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</span>
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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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POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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Kv4.2<br />
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KIAA1044
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</span>
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</h4>
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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="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KCND2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KCND2</a></em></strong>
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</span>
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</p>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/614?start=-3&limit=10&highlight=614">7q31.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:120272908-120750337&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'})">7:120,272,908-120,750,337</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Kv4 (KCND) proteins, such as Kv4.2, form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential (<a href="#2" class="mim-tip-reference" title="Isbrandt, D., Leicher, T., Waldschutz, R., Zhu, X., Luhmann, U., Michel, U., Sauter, K., Pongs, O. <strong>Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa).</strong> Genomics 64: 144-154, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729221</a>] [<a href="https://doi.org/10.1006/geno.2000.6117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729221">Isbrandt et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729221" 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>
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<br />
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O. <strong>Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current.</strong> Receptors Channels 6: 387-400, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10551270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10551270</a>]" pmid="10551270">Zhu et al. (1999)</a> cloned the cDNA encoding KCND2. The deduced 630-amino acid protein shares 99% sequence identity with the rat homolog. It contains multiple potential phosphorylation sites, as well as a membrane-spanning core region, including a P domain with the potassium channel signature GYGD, flanked by cytoplasmic hydrophilic N and C termini. <a href="#2" class="mim-tip-reference" title="Isbrandt, D., Leicher, T., Waldschutz, R., Zhu, X., Luhmann, U., Michel, U., Sauter, K., Pongs, O. <strong>Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa).</strong> Genomics 64: 144-154, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729221</a>] [<a href="https://doi.org/10.1006/geno.2000.6117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729221">Isbrandt et al. (2000)</a> determined that KCND2 shares 60% identity and 71% homology with the KCND1 (<a href="/entry/300281">300281</a>) and KCND3L (<a href="/entry/605411">605411</a>) sequences, with the least conservation at the C terminus. By Northern blot analysis, <a href="#6" class="mim-tip-reference" title="Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O. <strong>Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current.</strong> Receptors Channels 6: 387-400, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10551270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10551270</a>]" pmid="10551270">Zhu et al. (1999)</a> and <a href="#2" class="mim-tip-reference" title="Isbrandt, D., Leicher, T., Waldschutz, R., Zhu, X., Luhmann, U., Michel, U., Sauter, K., Pongs, O. <strong>Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa).</strong> Genomics 64: 144-154, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729221</a>] [<a href="https://doi.org/10.1006/geno.2000.6117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729221">Isbrandt et al. (2000)</a> detected expression of a 6.8-kb transcript only in brain, particularly in the amygdala, caudate nucleus, cerebellum, hippocampus, substantia nigra, and thalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10729221+10551270" 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>Heterologous expression by <a href="#6" class="mim-tip-reference" title="Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O. <strong>Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current.</strong> Receptors Channels 6: 387-400, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10551270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10551270</a>]" pmid="10551270">Zhu et al. (1999)</a> showed that KCND2 mediated a rapidly inactivating, A-type outward potassium current that was not under the control of the N terminus, as it is in Shaker channels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10551270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Losonczy, A., Makara, J. K., Magee, J. C. <strong>Compartmentalized dendritic plasticity and input feature storage in neurons.</strong> Nature 452: 436-441, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18368112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18368112</a>] [<a href="https://doi.org/10.1038/nature06725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18368112">Losonczy et al. (2008)</a> demonstrated that the coupling between local dendritic spikes and the soma of rat hippocampal CA1 pyramidal neurons can be modified in a branch-specific manner through an N-methyl-D-aspartate receptor (NMDAR; see <a href="/entry/138249">138249</a>)-dependent regulation of dendritic Kv4.2 potassium channels. These data suggested that compartmentalized changes in branch excitability could store multiple complex features of synaptic input, such as their spatiotemporal correlation. <a href="#4" class="mim-tip-reference" title="Losonczy, A., Makara, J. K., Magee, J. C. <strong>Compartmentalized dendritic plasticity and input feature storage in neurons.</strong> Nature 452: 436-441, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18368112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18368112</a>] [<a href="https://doi.org/10.1038/nature06725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18368112">Losonczy et al. (2008)</a> proposed that this 'branch strength potentiation' represents a previously unknown form of information storage that is distinct from that produced by changes in synaptic efficacy both at the mechanistic level and in the type of information stored. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18368112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Flowerdew, S. E., Burgoyne, R. D. <strong>A VAMP7/Vti1a SNARE complex distinguishes a non-conventional traffic route to the cell surface used by KChIP1 and Kv4 potassium channels.</strong> Biochem. J. 418: 529-540, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19138172[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/10.1042/BJ20081736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19138172">Flowerdew and Burgoyne (2009)</a> showed that potassium channel-interacting protein-1 (KCHIP1, or KCNIP1; <a href="/entry/604660">604660</a>) interacted with Kv4.2 and was required for Kv4.2 trafficking to the plasma membrane. Using HeLa and mouse Neuro2A neuroblastoma cells, they found that KCHIP1 and Kv4.2 used an intracellular vesicle trafficking pathway that included VTI1A (<a href="/entry/614316">614316</a>) and VAMP7 (<a href="/entry/300053">300053</a>) and required the GTPase RAB1 (<a href="/entry/179508">179508</a>), which is shared with more conventional vesicle-trafficking pathways. Knockdown of VTI1A or VAMP7 inhibited transport of Kv4.2 and KCHIP1 to the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138172" 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="#5" class="mim-tip-reference" title="Postma, A. V., Bezzina, C. R., de Vries, J. F., Wilde, A. A. M., Moorman, A. F. M., Mannens, M. M. A. M. <strong>Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.</strong> Hum. Genet. 106: 614-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942109</a>] [<a href="https://doi.org/10.1007/s004390000308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942109">Postma et al. (2000)</a> resolved the intron-exon boundaries and flanking intron sequences of the KCND2 gene and found that it contains 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942109" 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="#6" class="mim-tip-reference" title="Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O. <strong>Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current.</strong> Receptors Channels 6: 387-400, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10551270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10551270</a>]" pmid="10551270">Zhu et al. (1999)</a> mapped the KCND2 gene to chromosome 7q31-q32 by FISH. By radiation hybrid analysis, <a href="#5" class="mim-tip-reference" title="Postma, A. V., Bezzina, C. R., de Vries, J. F., Wilde, A. A. M., Moorman, A. F. M., Mannens, M. M. A. M. <strong>Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.</strong> Hum. Genet. 106: 614-619, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942109</a>] [<a href="https://doi.org/10.1007/s004390000308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942109">Postma et al. (2000)</a> mapped the gene to 7q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10942109+10551270" 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>See <a href="#0001">605410.0001</a> for a discussion of a possible association between variation in the KCND2 gene and infantile-onset severe refractory epilepsy (see <a href="/entry/308350">308350</a>) and autism (<a href="/entry/209850">209850</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">rs587777631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777631;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=rs587777631" 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=rs587777631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000133516 OR RCV001224876 OR RCV003298146" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133516, RCV001224876, RCV003298146" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133516...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to severe epilepsy and autism has not been confirmed.</p><p>In a pair of monozygotic twin girls with infantile-onset severe refractory epilepsy (see <a href="/entry/308350">308350</a>) and autism (<a href="/entry/209850">209850</a>), <a href="#3" class="mim-tip-reference" title="Lee, H., Lin, M. A., Kornblum, H. I., Papazian, D. M., Nelson, S. F. <strong>Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.</strong> Hum. Molec. Genet. 23: 3481-3489, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24501278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24501278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24501278[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/10.1093/hmg/ddu056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24501278">Lee et al. (2014)</a> identified a de novo heterozygous c.1210G-A transition in the KCND2 gene, resulting in a val404-to-met (V404M) substitution at a highly conserved residue at the C-terminal end of the transmembrane helix S6 region that makes up the ion permeation pathway. The mutation, which was found by whole-exome sequencing, was not present in the Exome Variant Server database or in 700 in-house control exomes. In vitro functional expression studies in Xenopus oocytes showed that the V404M mutant protein reached peak amplitude significantly later than wildtype, and the decay of the current was significantly slower and less complete, owing to impaired closed-state inactivation of the potassium channel. The effect of the mutation on closed-state inactivation was evident in the presence of auxiliary subunits that associate with Kv4 subunits to form A-type potassium current channels. The mutant protein acted in a dominant-negative manner when coexpressed with the wildtype protein. Exome sequencing identified variants in other genes in both patients as well: compound heterozygous variants in the SLC8A2 (<a href="/entry/601901">601901</a>) and GPR124 (<a href="/entry/606823">606823</a>) genes, and a de novo heterozygous variant in the BICC1 gene (<a href="/entry/614295">614295</a>). The patients had onset of seizures consisting of brief jerks of the extremities at age 2 months. Over the course of the first decade of life the seizures were uncontrolled and occurred up to many hundreds of times per day. The seizures decreased in frequency later in childhood, and staring spells occurred more frequently than generalized convulsions. At age 15 years, both showed features of autism and had very poor expressive speech. Cognitive functioning was in the 'very low' range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24501278" 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 class="mim-text-font">
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Flowerdew, S. E., Burgoyne, R. D.
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<strong>A VAMP7/Vti1a SNARE complex distinguishes a non-conventional traffic route to the cell surface used by KChIP1 and Kv4 potassium channels.</strong>
|
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Biochem. J. 418: 529-540, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19138172[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=19138172" 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/10.1042/BJ20081736" target="_blank">Full Text</a>]
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</p>
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<a id="2" class="mim-anchor"></a>
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<a id="Isbrandt2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Isbrandt, D., Leicher, T., Waldschutz, R., Zhu, X., Luhmann, U., Michel, U., Sauter, K., Pongs, O.
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<strong>Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa).</strong>
|
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Genomics 64: 144-154, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729221" 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.2000.6117" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Lee2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, H., Lin, M. A., Kornblum, H. I., Papazian, D. M., Nelson, S. F.
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<strong>Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.</strong>
|
|
Hum. Molec. Genet. 23: 3481-3489, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24501278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24501278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24501278[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=24501278" 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/10.1093/hmg/ddu056" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="4" class="mim-anchor"></a>
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<a id="Losonczy2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Losonczy, A., Makara, J. K., Magee, J. C.
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<strong>Compartmentalized dendritic plasticity and input feature storage in neurons.</strong>
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Nature 452: 436-441, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18368112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18368112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18368112" 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/nature06725" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Postma2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Postma, A. V., Bezzina, C. R., de Vries, J. F., Wilde, A. A. M., Moorman, A. F. M., Mannens, M. M. A. M.
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<strong>Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.</strong>
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Hum. Genet. 106: 614-619, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942109" 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/s004390000308" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Zhu1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O.
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<strong>Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current.</strong>
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Receptors Channels 6: 387-400, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10551270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10551270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10551270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/14/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 10/28/2011<br>Ada Hamosh - updated : 5/23/2008<br>Paul J. Converse - updated : 2/1/2001<br>Victor A. McKusick - updated : 11/20/2000
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</span>
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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 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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Paul J. Converse : 11/20/2000
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/06/2020
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<span class="mim-text-font">
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alopez : 08/20/2014<br>mcolton : 8/19/2014<br>ckniffin : 8/14/2014<br>mgross : 10/28/2011<br>terry : 10/28/2011<br>terry : 10/28/2011<br>alopez : 5/29/2008<br>terry : 5/23/2008<br>mcapotos : 2/7/2001<br>mcapotos : 2/1/2001<br>carol : 11/20/2000
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<span class="mim-font">
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<strong>*</strong> 605410
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<div>
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<h3>
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<span class="mim-font">
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POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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Kv4.2<br />
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KIAA1044
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KCND2</em></strong>
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<strong>
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<em>
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Cytogenetic location: 7q31.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:120,272,908-120,750,337 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Kv4 (KCND) proteins, such as Kv4.2, form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential (Isbrandt et al., 2000). </p>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Zhu et al. (1999) cloned the cDNA encoding KCND2. The deduced 630-amino acid protein shares 99% sequence identity with the rat homolog. It contains multiple potential phosphorylation sites, as well as a membrane-spanning core region, including a P domain with the potassium channel signature GYGD, flanked by cytoplasmic hydrophilic N and C termini. Isbrandt et al. (2000) determined that KCND2 shares 60% identity and 71% homology with the KCND1 (300281) and KCND3L (605411) sequences, with the least conservation at the C terminus. By Northern blot analysis, Zhu et al. (1999) and Isbrandt et al. (2000) detected expression of a 6.8-kb transcript only in brain, particularly in the amygdala, caudate nucleus, cerebellum, hippocampus, substantia nigra, and thalamus. </p>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Heterologous expression by Zhu et al. (1999) showed that KCND2 mediated a rapidly inactivating, A-type outward potassium current that was not under the control of the N terminus, as it is in Shaker channels. </p><p>Losonczy et al. (2008) demonstrated that the coupling between local dendritic spikes and the soma of rat hippocampal CA1 pyramidal neurons can be modified in a branch-specific manner through an N-methyl-D-aspartate receptor (NMDAR; see 138249)-dependent regulation of dendritic Kv4.2 potassium channels. These data suggested that compartmentalized changes in branch excitability could store multiple complex features of synaptic input, such as their spatiotemporal correlation. Losonczy et al. (2008) proposed that this 'branch strength potentiation' represents a previously unknown form of information storage that is distinct from that produced by changes in synaptic efficacy both at the mechanistic level and in the type of information stored. </p><p>Flowerdew and Burgoyne (2009) showed that potassium channel-interacting protein-1 (KCHIP1, or KCNIP1; 604660) interacted with Kv4.2 and was required for Kv4.2 trafficking to the plasma membrane. Using HeLa and mouse Neuro2A neuroblastoma cells, they found that KCHIP1 and Kv4.2 used an intracellular vesicle trafficking pathway that included VTI1A (614316) and VAMP7 (300053) and required the GTPase RAB1 (179508), which is shared with more conventional vesicle-trafficking pathways. Knockdown of VTI1A or VAMP7 inhibited transport of Kv4.2 and KCHIP1 to the plasma membrane. </p>
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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 class="mim-text-font">
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<p>Postma et al. (2000) resolved the intron-exon boundaries and flanking intron sequences of the KCND2 gene and found that it contains 6 exons. </p>
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<div>
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<br />
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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 class="mim-text-font">
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<p>Zhu et al. (1999) mapped the KCND2 gene to chromosome 7q31-q32 by FISH. By radiation hybrid analysis, Postma et al. (2000) mapped the gene to 7q31. </p>
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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 class="mim-text-font">
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<p>See 605410.0001 for a discussion of a possible association between variation in the KCND2 gene and infantile-onset severe refractory epilepsy (see 308350) and autism (209850).</p>
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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>1 Selected Example):</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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<span class="mim-font">
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<strong>.0001 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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KCND2, VAL404MET
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<br />
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SNP: rs587777631,
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ClinVar: RCV000133516, RCV001224876, RCV003298146
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to severe epilepsy and autism has not been confirmed.</p><p>In a pair of monozygotic twin girls with infantile-onset severe refractory epilepsy (see 308350) and autism (209850), Lee et al. (2014) identified a de novo heterozygous c.1210G-A transition in the KCND2 gene, resulting in a val404-to-met (V404M) substitution at a highly conserved residue at the C-terminal end of the transmembrane helix S6 region that makes up the ion permeation pathway. The mutation, which was found by whole-exome sequencing, was not present in the Exome Variant Server database or in 700 in-house control exomes. In vitro functional expression studies in Xenopus oocytes showed that the V404M mutant protein reached peak amplitude significantly later than wildtype, and the decay of the current was significantly slower and less complete, owing to impaired closed-state inactivation of the potassium channel. The effect of the mutation on closed-state inactivation was evident in the presence of auxiliary subunits that associate with Kv4 subunits to form A-type potassium current channels. The mutant protein acted in a dominant-negative manner when coexpressed with the wildtype protein. Exome sequencing identified variants in other genes in both patients as well: compound heterozygous variants in the SLC8A2 (601901) and GPR124 (606823) genes, and a de novo heterozygous variant in the BICC1 gene (614295). The patients had onset of seizures consisting of brief jerks of the extremities at age 2 months. Over the course of the first decade of life the seizures were uncontrolled and occurred up to many hundreds of times per day. The seizures decreased in frequency later in childhood, and staring spells occurred more frequently than generalized convulsions. At age 15 years, both showed features of autism and had very poor expressive speech. Cognitive functioning was in the 'very low' range. </p>
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<strong>REFERENCES</strong>
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Flowerdew, S. E., Burgoyne, R. D.
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<strong>A VAMP7/Vti1a SNARE complex distinguishes a non-conventional traffic route to the cell surface used by KChIP1 and Kv4 potassium channels.</strong>
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Biochem. J. 418: 529-540, 2009.
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[PubMed: 19138172]
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Isbrandt, D., Leicher, T., Waldschutz, R., Zhu, X., Luhmann, U., Michel, U., Sauter, K., Pongs, O.
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<strong>Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa).</strong>
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Lee, H., Lin, M. A., Kornblum, H. I., Papazian, D. M., Nelson, S. F.
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<strong>Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.</strong>
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Hum. Molec. Genet. 23: 3481-3489, 2014.
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Losonczy, A., Makara, J. K., Magee, J. C.
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<strong>Compartmentalized dendritic plasticity and input feature storage in neurons.</strong>
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Nature 452: 436-441, 2008.
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Postma, A. V., Bezzina, C. R., de Vries, J. F., Wilde, A. A. M., Moorman, A. F. M., Mannens, M. M. A. M.
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<strong>Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.</strong>
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Hum. Genet. 106: 614-619, 2000.
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Zhu, X.-R., Wulf, A., Schwarz, M., Isbrandt, D., Pongs, O.
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Cassandra L. Kniffin - updated : 8/14/2014<br>Patricia A. Hartz - updated : 10/28/2011<br>Ada Hamosh - updated : 5/23/2008<br>Paul J. Converse - updated : 2/1/2001<br>Victor A. McKusick - updated : 11/20/2000
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