3157 lines
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Entry
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- *605874 - POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605874</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/605874">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<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="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=ENSG00000169427;t=ENST00000520439" 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=51305" 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=605874" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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=ENSG00000169427;t=ENST00000520439" 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_001282534,NR_104210" 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_001282534" 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=605874" 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=16167&isoform_id=16167_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/KCNK9" 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/7546843,9230786,11139498,11228684,13431426,15864441,21439938,21439940,28394690,50959744,50959980,85567010,85567523,119612602,119612603,119612604,542133161,1832308024" 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/Q9NPC2" 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=51305" 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=ENSG00000169427;t=ENST00000520439" 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=KCNK9" 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=KCNK9" 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+51305" 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/KCNK9" 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:51305" 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/51305" 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=chr8&hgg_gene=ENST00000520439.3&hgg_start=139600838&hgg_end=139703123&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6283" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/kcnk9" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605874[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605874[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/KCNK9/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/ENSG00000169427" 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=KCNK9" 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=KCNK9" 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=KCNK9" 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=KCNK9&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/PA30065" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6283" 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/FBgn0037690.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:3521816" 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/KCNK9#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:3521816" 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/51305/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=51305" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006318;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006318 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006673;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006673 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-070705-260" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51305" 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=KCNK9&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 764861005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605874
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 3; TASK3
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KCNK9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KCNK9</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/8/578?start=-3&limit=10&highlight=578">8q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:139600838-139703123&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'})">8:139,600,838-139,703,123</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/578?start=-3&limit=10&highlight=578">
|
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8q24.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Birk-Barel syndrome
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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|
|
<a href="/entry/612292"> 612292 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605874" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605874" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>Potassium channels are ubiquitous multisubunit membrane proteins that regulate membrane potential in numerous cell types. One family of mammalian K+ channels is characterized by the presence of 4 transmembrane (TM) domains and 2 pore-forming (P) domains per subunit. All of these subunits, including KCNK9, share a conserved P domain that is essential for providing K+ selectivity (summary by <a href="#5" class="mim-tip-reference" title="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10734076" 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="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al. (2000)</a> cloned rat Kcnk9, a novel member of the 2P/4TM potassium channel family, from a cerebellum cDNA library. Because the deduced protein shares 54% sequence identity with the TASK potassium channel (KCNK3; <a href="/entry/603220">603220</a>), the authors designated the protein Task3. RT-PCR analysis demonstrated expression in many rat tissues, including brain, kidney, liver, lung, colon, stomach, spleen, testis, and skeletal muscle. <a href="#5" class="mim-tip-reference" title="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al. (2000)</a> also identified a human homolog of rat Kcnk9. The first 250 amino acids of the human KCNK9 protein are 94% identical to those of rat Kcnk9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10734076" 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="#9" class="mim-tip-reference" title="Rajan, S., Wischmeyer, E., Liu, G. X., Preisig-Muller, R., Daut, J., Karschin, A., Derst, C. <strong>TASK-3, a novel tandem pore domain acid-sensitive K+ channel: an extracellular histidine as pH sensor.</strong> J. Biol. Chem. 275: 16650-16657, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10747866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10747866</a>] [<a href="https://doi.org/10.1074/jbc.M000030200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10747866">Rajan et al. (2000)</a> independently identified human and guinea pig KCNK9. The human KCNK9 protein has 374 amino acids and shares 88.3% sequence identity with guinea pig KCNK9, with a nearly identical core sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10747866" 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 searching an EST database for sequences similar to KCNK3, followed by PCR and 5-prime RACE of a brain cDNA library, <a href="#12" class="mim-tip-reference" title="Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B. <strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong> J. Neurophysiol. 86: 130-142, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431495</a>] [<a href="https://doi.org/10.1152/jn.2001.86.1.130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431495">Vega-Saenz de Miera et al. (2001)</a> cloned KCNK9, which they called KT3.2. The deduced 374-amino acid protein has a calculated molecular mass of about 42 kD. KCNK9 contains structural features characteristic of the 2-pore channel family, including the canonical GYG/GFG sequences within the 2 channel pore regions, and a C terminus with 3 protein kinase C (see <a href="/entry/176960">176960</a>) sites and a protein kinase A (see <a href="/entry/601639">601639</a>) site. It does not, however, contain the extracellular cysteine that is involved in channel assembly in other members of this family. mRNA dot-blot analysis indicated expression mainly in neuronal tissue, particularly in cerebellum. Expression was also detected in adrenal gland, kidney, and lung. In rat, expression of Kcnk9 was restricted to brain, where it showed highest levels in cerebellum, medulla, and thalamic nuclei, as well as in portions of the hippocampus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Ruf, N., Bahring, S., Galetzka, D., Pliushch, G., Luft, F. C., Nurnberg, P., Haaf, T., Kelsey, G., Zechner, U. <strong>Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.</strong> Hum. Molec. Genet. 16: 2591-2599, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704508</a>] [<a href="https://doi.org/10.1093/hmg/ddm216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17704508">Ruf et al. (2007)</a> identified KCNK9 as an imprinted gene. KCNK9 was expressed from the maternal allele in human fetal brain and adult mouse brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17704508" 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="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al. (2000)</a> found that KCNK9 exhibited a time-independent, noninactivating K(+)-selective current when expressed in COS-7 cells. The KCNK9 current was highly sensitive to changes in extracellular pH, a hallmark of the TASK family of K+ channels. Mutation of histidine at position 98 to aspartate abolished pH sensitivity. KCNK9 was blocked by barium, quinidine, and lidocaine. Although the KCNK9 protein has multiple potential phosphorylation sites for protein kinases A and C, it is not regulated via phosphorylation by either kinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10734076" 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>Following expression of KCNK9 in Xenopus oocytes, <a href="#12" class="mim-tip-reference" title="Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B. <strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong> J. Neurophysiol. 86: 130-142, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431495</a>] [<a href="https://doi.org/10.1152/jn.2001.86.1.130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431495">Vega-Saenz de Miera et al. (2001)</a> observed channel properties essentially identical to those reported by <a href="#5" class="mim-tip-reference" title="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al. (2000)</a>. However, they found that phorbol 12-myristate 13 acetate (PMA) inhibited KCNK9 currents, suggesting modulation by protein kinase C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10734076+11431495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Mu, D., Chen, L., Zhang, X., See, L.-H., Koch, C. M., Yen, C., Tong, J. J., Spiegel, L., Nguyen, K. C. Q., Servoss, A., Peng, Y., Pei, L., Marks, J. R., Lowe, S., Hoey, T., Jan, L. Y., McCombie, W. R., Wigler, M. H., Powers, S. <strong>Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene.</strong> Cancer Cell 3: 297-302, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676587</a>] [<a href="https://doi.org/10.1016/s1535-6108(03)00054-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676587">Mu et al. (2003)</a> showed that TASK3/KCNK9 is amplified and overexpressed in several types of human carcinomas. <a href="#7" class="mim-tip-reference" title="Pei, L., Wiser, O., Slavin, A., Mu, D., Powers, S., Jan, L. Y., Hoey, T. <strong>Oncogenic potential of TASK3 (Kcnk9) depends on K(+) channel function.</strong> Proc. Nat. Acad. Sci. 100: 7803-7807, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12782791[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/10.1073/pnas.1232448100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12782791">Pei et al. (2003)</a> demonstrated that the point mutation, G95E, within the consensus K(+) filter of TASK3 not only abolished TASK3 potassium channel activity but also abrogated its oncogenic functions, including proliferation in low serum, resistance to apoptosis, and promotion of tumor growth. Furthermore, they provided evidence that TASK3 (G95E) is a dominant-negative mutation, because coexpression of the wildtype and the mutant TASK3 resulted in inhibition of K(+) current of wildtype TASK3 and its tumorigenicity in nude mice. These results established a direct link between the potassium channel activity of TASK3 and its oncogenic functions and implied that blockers for this potassium channel may have therapeutic potential for the treatment of cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12782791+12676587" 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="#12" class="mim-tip-reference" title="Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B. <strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong> J. Neurophysiol. 86: 130-142, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431495</a>] [<a href="https://doi.org/10.1152/jn.2001.86.1.130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431495">Vega-Saenz de Miera et al. (2001)</a> determined that the KCNK9 gene contains 3 exons, with the third exon encoding the 3-prime untranslated region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431495" 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="#5" class="mim-tip-reference" title="Kim, Y., Bang, H., Kim, D. <strong>TASK-3, a new member of the tandem pore K+ channel family.</strong> J. Biol. Chem. 275: 9340-9347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>] [<a href="https://doi.org/10.1074/jbc.275.13.9340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10734076">Kim et al. (2000)</a> mapped the KCNK9 gene to chromosome 8. By genomic sequence analysis, <a href="#12" class="mim-tip-reference" title="Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B. <strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong> J. Neurophysiol. 86: 130-142, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431495</a>] [<a href="https://doi.org/10.1152/jn.2001.86.1.130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11431495">Vega-Saenz de Miera et al. (2001)</a> mapped the KCNK9 gene to chromosome 8q24.1-q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10734076+11431495" 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 a large Israeli-Arab family with Birk-Barel syndrome (BIBARS; <a href="/entry/612292">612292</a>), <a href="#1" class="mim-tip-reference" title="Barel, O., Shalev, S. A., Ofir, R., Cohen, A., Zlotogora, J., Shorer, Z., Mazor, G., Finer, G., Khateeb, S., Zilberberg, N., Birk, O. S. <strong>Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.</strong> Am. J. Hum. Genet. 83: 193-199, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18678320[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678320">Barel et al. (2008)</a> identified a missense mutation in the KCNK9 gene (G236R; <a href="#0001">605874.0001</a>). The mutation fully abolished the channel's currents, both when functioning as a homodimer and as a heterodimer with TASK (KCNK3; <a href="/entry/603220">603220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678320" 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 exome sequencing in 4 unrelated children with developmental delay and central hypotonia, <a href="#4" class="mim-tip-reference" title="Graham, J. M., Jr., Zadeh, N., Kelley, M., Tan, E. S., Liew, W., Tan, V., Deardorff, M. A., Wilson, G. N., Sagi-Dain, L., Shalev, S. A. <strong>KCNK9 imprinting syndrome--further delineation of a possible treatable disorder.</strong> Am. J. Med. Genet. 170A: 2632-2637, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27151206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27151206</a>] [<a href="https://doi.org/10.1002/ajmg.a.37740" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27151206">Graham et al. (2016)</a> identified de novo heterozygosity for the G236R mutation in the KCNK9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27151206" 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="#11" class="mim-tip-reference" title="Sediva, M., Lassuthova, P., Zamecnik, J., Sedlackova, L., Seeman, P., Haberlova, J. <strong>Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.</strong> Europ. J. Med. Genet. 63: 103619, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30690205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30690205</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.01.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30690205">Sediva et al. (2020)</a> identified a heterozygous mutation in the KCNK9 gene (A237D; <a href="#0002">605874.0002</a>) in a 17-year-old girl with Birk-Barel syndrome. The mutation was identified by whole-exome sequencing. The patient's father and maternal grandparents did not have the mutation; her mother was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30690205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others. <strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong> Genome Med. 14: 62, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35698242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35698242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35698242[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/10.1186/s13073-022-01064-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35698242">Cousin et al. (2022)</a> described the molecular features of BIBARS in 47 patients from 29 families, including 26 newly identified patients from 22 families. All of the patients had heterozygous mutations in the KCNK9 gene, which were identified by gene panel testing, whole-exome sequencing, or whole-genome sequencing. Fifteen of the mutations were novel, and 2 mutation hotspots were identified (Gly236 and Arg131). Analysis of the molecular pathology of these mutations by computational modeling, simulations of molecular dynamics, and patch-clamp electrophysiology studies demonstrated that the majority of the mutations altered KCNK9 channel function. Interestingly, some of the mutations, such as G236R (<a href="#0001">605874.0001</a>), resulted in reduced inwardly rectifying currents, whereas other mutations resulted in significantly increased outward currents; both mechanisms, however, resulted in the same clinical phenotype. <a href="#2" class="mim-tip-reference" title="Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others. <strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong> Genome Med. 14: 62, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35698242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35698242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35698242[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/10.1186/s13073-022-01064-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35698242">Cousin et al. (2022)</a> noted that whereas the fenamic acid class of drugs may partially rescue channel defects in KCNK9 mutations that lead to reduced currents, such as the G236R mutation, the same drug class may exacerbate negative effects in mutations that lead to normal or increased channel currents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35698242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others. <strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong> Nature 514: 92-97, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25231870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25231870</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25231870[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25231870">Perry et al. (2014)</a> performed a metaanalysis using genomewide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, and found robust evidence (p less than 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with 3 loci (DLK1, <a href="/entry/176290">176290</a>-WDR25; MKRN3, <a href="/entry/603856">603856</a>-MAGEL2, <a href="/entry/605283">605283</a>; and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. <a href="#8" class="mim-tip-reference" title="Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others. <strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong> Nature 514: 92-97, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25231870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25231870</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25231870[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25231870">Perry et al. (2014)</a> identified a significant maternal parent-of-origin effect in delaying age of menarche associated with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1469039;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1469039</a>, an intronic SNP in KCNK9, which shows maternal-specific expression in human brain. Concordantly, only the maternally-inherited allele was associated with age at menarche (p(mat) = 5.6 x 10(-6)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25231870" 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="#3" class="mim-tip-reference" title="Davies, L. A., Hu, C., Guagliardo, N. A., Sen, N., Chen, X., Talley, E. M., Carey, R. M., Bayliss, D. A., Barrett, P. Q. <strong>TASK channel deletion in mice causes primary hyperaldosteronism.</strong> Proc. Nat. Acad. Sci. 105: 2203-2208, 2008. Note: Erratum: Proc. Nat. Acad. Sci. 105: 13696 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18250325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18250325</a>] [<a href="https://doi.org/10.1073/pnas.0712000105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18250325">Davies et al. (2008)</a> found that Task1 (KCNK3; <a href="/entry/603220">603220</a>)/Task3 double-knockout mice were viable and showed no obvious sensorimotor defects. However, in the adrenal gland, they showed a marked depolarization of zona glomerulosa membrane potential. Although double-knockout mice adjusted urinary sodium excretion and aldosterone production to match sodium intake, they produced more aldosterone than controls across a range of sodium intake, and they failed to suppress aldosterone production in response to dietary sodium loading. Overproduction of aldosterone was not the result of enhanced renin-angiotensin activity. <a href="#3" class="mim-tip-reference" title="Davies, L. A., Hu, C., Guagliardo, N. A., Sen, N., Chen, X., Talley, E. M., Carey, R. M., Bayliss, D. A., Barrett, P. Q. <strong>TASK channel deletion in mice causes primary hyperaldosteronism.</strong> Proc. Nat. Acad. Sci. 105: 2203-2208, 2008. Note: Erratum: Proc. Nat. Acad. Sci. 105: 13696 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18250325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18250325</a>] [<a href="https://doi.org/10.1073/pnas.0712000105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18250325">Davies et al. (2008)</a> concluded that Task1/Task3 double-knockout mice exhibit primary hyperaldosteronism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18250325" 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 a large Israeli-Arab kindred presenting with an apparently maternally transmitted syndrome of mental retardation and dysmorphic features (BIBARS; <a href="/entry/612292">612292</a>), <a href="#1" class="mim-tip-reference" title="Barel, O., Shalev, S. A., Ofir, R., Cohen, A., Zlotogora, J., Shorer, Z., Mazor, G., Finer, G., Khateeb, S., Zilberberg, N., Birk, O. S. <strong>Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.</strong> Am. J. Hum. Genet. 83: 193-199, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18678320[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18678320">Barel et al. (2008)</a> identified a G-to-A transition at nucleotide 770 (c.770G-A, NM_016601) in exon 2 of the KCNK9 gene, resulting in a glycine-to-arginine substitution at codon 236 (G236R). Analysis of all 27 DNA samples of the kindred was compatible with the mutation being associated with the disease phenotype, implying dominant inheritance with paternal imprinting. The G236R mutation is expected to lie within the ion-conduction pathway of the channel, and expression of mutant cRNAs in Xenopus laevis oocytes resulted in no measurable current. Coexpression of mutant and wildtype channels resulted in an approximately 4-fold decrease in wildtype currents, indicating a dominant-negative effect. A dominant-negative effect was also observed when the KCNK9 mutant was coexpressed with KCNK3 (<a href="/entry/603220">603220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678320" 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 exome sequencing in 4 unrelated children with developmental delay and central hypotonia, <a href="#4" class="mim-tip-reference" title="Graham, J. M., Jr., Zadeh, N., Kelley, M., Tan, E. S., Liew, W., Tan, V., Deardorff, M. A., Wilson, G. N., Sagi-Dain, L., Shalev, S. A. <strong>KCNK9 imprinting syndrome--further delineation of a possible treatable disorder.</strong> Am. J. Med. Genet. 170A: 2632-2637, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27151206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27151206</a>] [<a href="https://doi.org/10.1002/ajmg.a.37740" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27151206">Graham et al. (2016)</a> identified de novo heterozygosity for the G236R mutation in the KCNK9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27151206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (family 23) with BIBARS, <a href="#2" class="mim-tip-reference" title="Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others. <strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong> Genome Med. 14: 62, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35698242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35698242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35698242[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/10.1186/s13073-022-01064-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35698242">Cousin et al. (2022)</a> identified a de novo heterozygous c.706G-A transition (NM_001282534.1) in the KCNK9 gene, resulting in the G236R substitution. The mutation, which was identified by whole-exome sequencing, was not present in the gnomAD database (v2.1.1). Whole-cell patch-clamp studies demonstrated that the mutation resulted in significantly reduced outward currents compared to wildtype KCNK9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35698242" 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 BIRK-BAREL SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1814677892 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1814677892;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=rs1814677892" 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=rs1814677892" 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=RCV001262218" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001262218" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001262218</a>
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<p>By whole-exome sequencing in a 17-year-old girl with Birk-Barel syndrome (BIBARS; <a href="/entry/612292">612292</a>), <a href="#11" class="mim-tip-reference" title="Sediva, M., Lassuthova, P., Zamecnik, J., Sedlackova, L., Seeman, P., Haberlova, J. <strong>Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.</strong> Europ. J. Med. Genet. 63: 103619, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30690205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30690205</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.01.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30690205">Sediva et al. (2020)</a> identified a heterozygous c.710C-A transversion (c.710C-A, NM_001282534.1) in exon 2 of the KCNK9 gene, resulting in an ala237-to-asp (A237D) substitution at a highly conserved residue. The patient's father and maternal grandparents did not have the mutation; her mother was not available for testing. Functional studies were not performed. The patient had axonal motor neuropathy, cleft palate, developmental delay, and hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30690205" 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 BIRK-BAREL SYNDROME</strong>
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KCNK9, ARG131HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs867543866 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs867543866;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs867543866?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs867543866" 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=rs867543866" 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=RCV000413977 OR RCV000679851 OR RCV001266147" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000413977, RCV000679851, RCV001266147" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000413977...</a>
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<span class="mim-text-font">
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<p>In patients from 5 unrelated families (families 3-7) with Birk-Barel syndrome (BIBARS; <a href="/entry/612292">612292</a>), <a href="#2" class="mim-tip-reference" title="Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others. <strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong> Genome Med. 14: 62, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35698242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35698242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35698242[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/10.1186/s13073-022-01064-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35698242">Cousin et al. (2022)</a> identified a de novo heterozygous c.392G-A transition (c.392G-A, NM_001282534.1) in the KCNK9 gene, resulting in an arg131-to-his (R131H) substitution. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Whole-cell patch-clamp studies demonstrated that the mutation resulted in significantly increased outward currents compared to wildtype KCNK9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35698242" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Barel2008" class="mim-anchor"></a>
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Barel, O., Shalev, S. A., Ofir, R., Cohen, A., Zlotogora, J., Shorer, Z., Mazor, G., Finer, G., Khateeb, S., Zilberberg, N., Birk, O. S.
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<strong>Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.</strong>
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Am. J. Hum. Genet. 83: 193-199, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678320</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18678320[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=18678320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.07.010" target="_blank">Full Text</a>]
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<a id="Cousin2022" class="mim-anchor"></a>
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Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others.
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<strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong>
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Genome Med. 14: 62, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35698242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35698242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35698242[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=35698242" 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/10.1186/s13073-022-01064-4" target="_blank">Full Text</a>]
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<a id="Davies2008" class="mim-anchor"></a>
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Davies, L. A., Hu, C., Guagliardo, N. A., Sen, N., Chen, X., Talley, E. M., Carey, R. M., Bayliss, D. A., Barrett, P. Q.
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<strong>TASK channel deletion in mice causes primary hyperaldosteronism.</strong>
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Proc. Nat. Acad. Sci. 105: 2203-2208, 2008. Note: Erratum: Proc. Nat. Acad. Sci. 105: 13696 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18250325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18250325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18250325" 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/10.1073/pnas.0712000105" target="_blank">Full Text</a>]
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<a id="Graham2016" class="mim-anchor"></a>
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Graham, J. M., Jr., Zadeh, N., Kelley, M., Tan, E. S., Liew, W., Tan, V., Deardorff, M. A., Wilson, G. N., Sagi-Dain, L., Shalev, S. A.
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<strong>KCNK9 imprinting syndrome--further delineation of a possible treatable disorder.</strong>
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Am. J. Med. Genet. 170A: 2632-2637, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27151206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27151206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27151206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37740" target="_blank">Full Text</a>]
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Kim, Y., Bang, H., Kim, D.
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<strong>TASK-3, a new member of the tandem pore K+ channel family.</strong>
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J. Biol. Chem. 275: 9340-9347, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10734076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10734076</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10734076" 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/10.1074/jbc.275.13.9340" target="_blank">Full Text</a>]
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<a id="Mu2003" class="mim-anchor"></a>
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Mu, D., Chen, L., Zhang, X., See, L.-H., Koch, C. M., Yen, C., Tong, J. J., Spiegel, L., Nguyen, K. C. Q., Servoss, A., Peng, Y., Pei, L., Marks, J. R., Lowe, S., Hoey, T., Jan, L. Y., McCombie, W. R., Wigler, M. H., Powers, S.
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<strong>Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene.</strong>
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Cancer Cell 3: 297-302, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1535-6108(03)00054-0" target="_blank">Full Text</a>]
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<a id="Pei2003" class="mim-anchor"></a>
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Pei, L., Wiser, O., Slavin, A., Mu, D., Powers, S., Jan, L. Y., Hoey, T.
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<strong>Oncogenic potential of TASK3 (Kcnk9) depends on K(+) channel function.</strong>
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Proc. Nat. Acad. Sci. 100: 7803-7807, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12782791[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=12782791" 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/10.1073/pnas.1232448100" target="_blank">Full Text</a>]
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<a id="Perry2014" class="mim-anchor"></a>
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Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others.
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<strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong>
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Nature 514: 92-97, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25231870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25231870</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25231870[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=25231870" 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/nature13545" target="_blank">Full Text</a>]
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<a id="Rajan2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Rajan, S., Wischmeyer, E., Liu, G. X., Preisig-Muller, R., Daut, J., Karschin, A., Derst, C.
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<strong>TASK-3, a novel tandem pore domain acid-sensitive K+ channel: an extracellular histidine as pH sensor.</strong>
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J. Biol. Chem. 275: 16650-16657, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10747866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10747866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10747866" 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/10.1074/jbc.M000030200" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Ruf2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruf, N., Bahring, S., Galetzka, D., Pliushch, G., Luft, F. C., Nurnberg, P., Haaf, T., Kelsey, G., Zechner, U.
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<strong>Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.</strong>
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Hum. Molec. Genet. 16: 2591-2599, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17704508" 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/ddm216" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Sediva2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sediva, M., Lassuthova, P., Zamecnik, J., Sedlackova, L., Seeman, P., Haberlova, J.
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<strong>Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.</strong>
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Europ. J. Med. Genet. 63: 103619, 2020. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30690205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30690205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30690205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2019.01.009" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Vega-Saenz de Miera2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B.
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<strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong>
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J. Neurophysiol. 86: 130-142, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11431495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11431495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11431495" 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/10.1152/jn.2001.86.1.130" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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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Hilary J. Vernon - updated : 01/25/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 11/25/2020<br>Carol A. Bocchini - updated : 07/31/2018<br>Ada Hamosh - updated : 12/03/2014<br>Patricia A. Hartz - updated : 10/14/2009<br>Ada Hamosh - updated : 9/8/2008<br>Patricia A. Hartz - updated : 8/18/2008<br>Victor A. McKusick - updated : 7/16/2003<br>Patricia A. Hartz - updated : 11/20/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Yen-Pei C. Chang : 4/24/2001
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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 : 01/25/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 11/30/2020<br>carol : 11/30/2020<br>carol : 11/25/2020<br>carol : 08/01/2018<br>carol : 07/31/2018<br>carol : 10/05/2016<br>alopez : 12/03/2014<br>carol : 3/24/2014<br>terry : 9/24/2012<br>mgross : 10/22/2009<br>terry : 10/14/2009<br>alopez : 9/19/2008<br>alopez : 9/16/2008<br>terry : 9/8/2008<br>wwang : 8/22/2008<br>terry : 8/18/2008<br>tkritzer : 7/30/2003<br>cwells : 7/22/2003<br>terry : 7/16/2003<br>mgross : 11/20/2002<br>mgross : 11/20/2002<br>carol : 4/24/2001
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605874
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<div>
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<h3>
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<span class="mim-font">
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POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9
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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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TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 3; TASK3
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KCNK9</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 764861005;
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<strong>
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<em>
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Cytogenetic location: 8q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:139,600,838-139,703,123 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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">
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8q24.3
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<span class="mim-font">
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Birk-Barel syndrome
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<td>
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<span class="mim-font">
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612292
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Potassium channels are ubiquitous multisubunit membrane proteins that regulate membrane potential in numerous cell types. One family of mammalian K+ channels is characterized by the presence of 4 transmembrane (TM) domains and 2 pore-forming (P) domains per subunit. All of these subunits, including KCNK9, share a conserved P domain that is essential for providing K+ selectivity (summary by Kim et al., 2000). </p>
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<strong>Cloning and Expression</strong>
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<p>Kim et al. (2000) cloned rat Kcnk9, a novel member of the 2P/4TM potassium channel family, from a cerebellum cDNA library. Because the deduced protein shares 54% sequence identity with the TASK potassium channel (KCNK3; 603220), the authors designated the protein Task3. RT-PCR analysis demonstrated expression in many rat tissues, including brain, kidney, liver, lung, colon, stomach, spleen, testis, and skeletal muscle. Kim et al. (2000) also identified a human homolog of rat Kcnk9. The first 250 amino acids of the human KCNK9 protein are 94% identical to those of rat Kcnk9. </p><p>Rajan et al. (2000) independently identified human and guinea pig KCNK9. The human KCNK9 protein has 374 amino acids and shares 88.3% sequence identity with guinea pig KCNK9, with a nearly identical core sequence. </p><p>By searching an EST database for sequences similar to KCNK3, followed by PCR and 5-prime RACE of a brain cDNA library, Vega-Saenz de Miera et al. (2001) cloned KCNK9, which they called KT3.2. The deduced 374-amino acid protein has a calculated molecular mass of about 42 kD. KCNK9 contains structural features characteristic of the 2-pore channel family, including the canonical GYG/GFG sequences within the 2 channel pore regions, and a C terminus with 3 protein kinase C (see 176960) sites and a protein kinase A (see 601639) site. It does not, however, contain the extracellular cysteine that is involved in channel assembly in other members of this family. mRNA dot-blot analysis indicated expression mainly in neuronal tissue, particularly in cerebellum. Expression was also detected in adrenal gland, kidney, and lung. In rat, expression of Kcnk9 was restricted to brain, where it showed highest levels in cerebellum, medulla, and thalamic nuclei, as well as in portions of the hippocampus. </p><p>Ruf et al. (2007) identified KCNK9 as an imprinted gene. KCNK9 was expressed from the maternal allele in human fetal brain and adult mouse brain. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Kim et al. (2000) found that KCNK9 exhibited a time-independent, noninactivating K(+)-selective current when expressed in COS-7 cells. The KCNK9 current was highly sensitive to changes in extracellular pH, a hallmark of the TASK family of K+ channels. Mutation of histidine at position 98 to aspartate abolished pH sensitivity. KCNK9 was blocked by barium, quinidine, and lidocaine. Although the KCNK9 protein has multiple potential phosphorylation sites for protein kinases A and C, it is not regulated via phosphorylation by either kinase. </p><p>Following expression of KCNK9 in Xenopus oocytes, Vega-Saenz de Miera et al. (2001) observed channel properties essentially identical to those reported by Kim et al. (2000). However, they found that phorbol 12-myristate 13 acetate (PMA) inhibited KCNK9 currents, suggesting modulation by protein kinase C. </p><p>Mu et al. (2003) showed that TASK3/KCNK9 is amplified and overexpressed in several types of human carcinomas. Pei et al. (2003) demonstrated that the point mutation, G95E, within the consensus K(+) filter of TASK3 not only abolished TASK3 potassium channel activity but also abrogated its oncogenic functions, including proliferation in low serum, resistance to apoptosis, and promotion of tumor growth. Furthermore, they provided evidence that TASK3 (G95E) is a dominant-negative mutation, because coexpression of the wildtype and the mutant TASK3 resulted in inhibition of K(+) current of wildtype TASK3 and its tumorigenicity in nude mice. These results established a direct link between the potassium channel activity of TASK3 and its oncogenic functions and implied that blockers for this potassium channel may have therapeutic potential for the treatment of cancers. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Vega-Saenz de Miera et al. (2001) determined that the KCNK9 gene contains 3 exons, with the third exon encoding the 3-prime untranslated region. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Kim et al. (2000) mapped the KCNK9 gene to chromosome 8. By genomic sequence analysis, Vega-Saenz de Miera et al. (2001) mapped the KCNK9 gene to chromosome 8q24.1-q24.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a large Israeli-Arab family with Birk-Barel syndrome (BIBARS; 612292), Barel et al. (2008) identified a missense mutation in the KCNK9 gene (G236R; 605874.0001). The mutation fully abolished the channel's currents, both when functioning as a homodimer and as a heterodimer with TASK (KCNK3; 603220). </p><p>By exome sequencing in 4 unrelated children with developmental delay and central hypotonia, Graham et al. (2016) identified de novo heterozygosity for the G236R mutation in the KCNK9 gene. </p><p>Sediva et al. (2020) identified a heterozygous mutation in the KCNK9 gene (A237D; 605874.0002) in a 17-year-old girl with Birk-Barel syndrome. The mutation was identified by whole-exome sequencing. The patient's father and maternal grandparents did not have the mutation; her mother was not available for testing. </p><p>Cousin et al. (2022) described the molecular features of BIBARS in 47 patients from 29 families, including 26 newly identified patients from 22 families. All of the patients had heterozygous mutations in the KCNK9 gene, which were identified by gene panel testing, whole-exome sequencing, or whole-genome sequencing. Fifteen of the mutations were novel, and 2 mutation hotspots were identified (Gly236 and Arg131). Analysis of the molecular pathology of these mutations by computational modeling, simulations of molecular dynamics, and patch-clamp electrophysiology studies demonstrated that the majority of the mutations altered KCNK9 channel function. Interestingly, some of the mutations, such as G236R (605874.0001), resulted in reduced inwardly rectifying currents, whereas other mutations resulted in significantly increased outward currents; both mechanisms, however, resulted in the same clinical phenotype. Cousin et al. (2022) noted that whereas the fenamic acid class of drugs may partially rescue channel defects in KCNK9 mutations that lead to reduced currents, such as the G236R mutation, the same drug class may exacerbate negative effects in mutations that lead to normal or increased channel currents. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Perry et al. (2014) performed a metaanalysis using genomewide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, and found robust evidence (p less than 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with 3 loci (DLK1, 176290-WDR25; MKRN3, 603856-MAGEL2, 605283; and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Perry et al. (2014) identified a significant maternal parent-of-origin effect in delaying age of menarche associated with rs1469039, an intronic SNP in KCNK9, which shows maternal-specific expression in human brain. Concordantly, only the maternally-inherited allele was associated with age at menarche (p(mat) = 5.6 x 10(-6)). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Davies et al. (2008) found that Task1 (KCNK3; 603220)/Task3 double-knockout mice were viable and showed no obvious sensorimotor defects. However, in the adrenal gland, they showed a marked depolarization of zona glomerulosa membrane potential. Although double-knockout mice adjusted urinary sodium excretion and aldosterone production to match sodium intake, they produced more aldosterone than controls across a range of sodium intake, and they failed to suppress aldosterone production in response to dietary sodium loading. Overproduction of aldosterone was not the result of enhanced renin-angiotensin activity. Davies et al. (2008) concluded that Task1/Task3 double-knockout mice exhibit primary hyperaldosteronism. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 BIRK-BAREL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KCNK9, GLY236ARG
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<br />
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SNP: rs121908332,
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ClinVar: RCV000005007, RCV000203121
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large Israeli-Arab kindred presenting with an apparently maternally transmitted syndrome of mental retardation and dysmorphic features (BIBARS; 612292), Barel et al. (2008) identified a G-to-A transition at nucleotide 770 (c.770G-A, NM_016601) in exon 2 of the KCNK9 gene, resulting in a glycine-to-arginine substitution at codon 236 (G236R). Analysis of all 27 DNA samples of the kindred was compatible with the mutation being associated with the disease phenotype, implying dominant inheritance with paternal imprinting. The G236R mutation is expected to lie within the ion-conduction pathway of the channel, and expression of mutant cRNAs in Xenopus laevis oocytes resulted in no measurable current. Coexpression of mutant and wildtype channels resulted in an approximately 4-fold decrease in wildtype currents, indicating a dominant-negative effect. A dominant-negative effect was also observed when the KCNK9 mutant was coexpressed with KCNK3 (603220). </p><p>By exome sequencing in 4 unrelated children with developmental delay and central hypotonia, Graham et al. (2016) identified de novo heterozygosity for the G236R mutation in the KCNK9 gene. </p><p>In a patient (family 23) with BIBARS, Cousin et al. (2022) identified a de novo heterozygous c.706G-A transition (NM_001282534.1) in the KCNK9 gene, resulting in the G236R substitution. The mutation, which was identified by whole-exome sequencing, was not present in the gnomAD database (v2.1.1). Whole-cell patch-clamp studies demonstrated that the mutation resulted in significantly reduced outward currents compared to wildtype KCNK9. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 BIRK-BAREL SYNDROME</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KCNK9, ALA237ASP
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<br />
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SNP: rs1814677892,
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ClinVar: RCV001262218
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a 17-year-old girl with Birk-Barel syndrome (BIBARS; 612292), Sediva et al. (2020) identified a heterozygous c.710C-A transversion (c.710C-A, NM_001282534.1) in exon 2 of the KCNK9 gene, resulting in an ala237-to-asp (A237D) substitution at a highly conserved residue. The patient's father and maternal grandparents did not have the mutation; her mother was not available for testing. Functional studies were not performed. The patient had axonal motor neuropathy, cleft palate, developmental delay, and hypotonia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 BIRK-BAREL SYNDROME</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KCNK9, ARG131HIS
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<br />
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|
|
SNP: rs867543866,
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|
|
gnomAD: rs867543866,
|
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|
|
ClinVar: RCV000413977, RCV000679851, RCV001266147
|
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|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In patients from 5 unrelated families (families 3-7) with Birk-Barel syndrome (BIBARS; 612292), Cousin et al. (2022) identified a de novo heterozygous c.392G-A transition (c.392G-A, NM_001282534.1) in the KCNK9 gene, resulting in an arg131-to-his (R131H) substitution. The mutation, which was found by whole-exome sequencing, was not present in the gnomAD database. Whole-cell patch-clamp studies demonstrated that the mutation resulted in significantly increased outward currents compared to wildtype KCNK9. </p>
|
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</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Barel, O., Shalev, S. A., Ofir, R., Cohen, A., Zlotogora, J., Shorer, Z., Mazor, G., Finer, G., Khateeb, S., Zilberberg, N., Birk, O. S.
|
|
<strong>Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.</strong>
|
|
Am. J. Hum. Genet. 83: 193-199, 2008.
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|
|
[PubMed: 18678320]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.07.010]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., and 59 others.
|
|
<strong>Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.</strong>
|
|
Genome Med. 14: 62, 2022.
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|
[PubMed: 35698242]
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[Full Text: https://doi.org/10.1186/s13073-022-01064-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Davies, L. A., Hu, C., Guagliardo, N. A., Sen, N., Chen, X., Talley, E. M., Carey, R. M., Bayliss, D. A., Barrett, P. Q.
|
|
<strong>TASK channel deletion in mice causes primary hyperaldosteronism.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 2203-2208, 2008. Note: Erratum: Proc. Nat. Acad. Sci. 105: 13696 only, 2008.
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|
[PubMed: 18250325]
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[Full Text: https://doi.org/10.1073/pnas.0712000105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Graham, J. M., Jr., Zadeh, N., Kelley, M., Tan, E. S., Liew, W., Tan, V., Deardorff, M. A., Wilson, G. N., Sagi-Dain, L., Shalev, S. A.
|
|
<strong>KCNK9 imprinting syndrome--further delineation of a possible treatable disorder.</strong>
|
|
Am. J. Med. Genet. 170A: 2632-2637, 2016.
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[PubMed: 27151206]
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[Full Text: https://doi.org/10.1002/ajmg.a.37740]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kim, Y., Bang, H., Kim, D.
|
|
<strong>TASK-3, a new member of the tandem pore K+ channel family.</strong>
|
|
J. Biol. Chem. 275: 9340-9347, 2000.
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[PubMed: 10734076]
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[Full Text: https://doi.org/10.1074/jbc.275.13.9340]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Mu, D., Chen, L., Zhang, X., See, L.-H., Koch, C. M., Yen, C., Tong, J. J., Spiegel, L., Nguyen, K. C. Q., Servoss, A., Peng, Y., Pei, L., Marks, J. R., Lowe, S., Hoey, T., Jan, L. Y., McCombie, W. R., Wigler, M. H., Powers, S.
|
|
<strong>Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene.</strong>
|
|
Cancer Cell 3: 297-302, 2003.
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|
[PubMed: 12676587]
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[Full Text: https://doi.org/10.1016/s1535-6108(03)00054-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Pei, L., Wiser, O., Slavin, A., Mu, D., Powers, S., Jan, L. Y., Hoey, T.
|
|
<strong>Oncogenic potential of TASK3 (Kcnk9) depends on K(+) channel function.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 7803-7807, 2003.
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[PubMed: 12782791]
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[Full Text: https://doi.org/10.1073/pnas.1232448100]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., and 192 others.
|
|
<strong>Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</strong>
|
|
Nature 514: 92-97, 2014.
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|
|
[PubMed: 25231870]
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[Full Text: https://doi.org/10.1038/nature13545]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Rajan, S., Wischmeyer, E., Liu, G. X., Preisig-Muller, R., Daut, J., Karschin, A., Derst, C.
|
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<strong>TASK-3, a novel tandem pore domain acid-sensitive K+ channel: an extracellular histidine as pH sensor.</strong>
|
|
J. Biol. Chem. 275: 16650-16657, 2000.
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|
[PubMed: 10747866]
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[Full Text: https://doi.org/10.1074/jbc.M000030200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ruf, N., Bahring, S., Galetzka, D., Pliushch, G., Luft, F. C., Nurnberg, P., Haaf, T., Kelsey, G., Zechner, U.
|
|
<strong>Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.</strong>
|
|
Hum. Molec. Genet. 16: 2591-2599, 2007.
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[PubMed: 17704508]
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[Full Text: https://doi.org/10.1093/hmg/ddm216]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Sediva, M., Lassuthova, P., Zamecnik, J., Sedlackova, L., Seeman, P., Haberlova, J.
|
|
<strong>Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.</strong>
|
|
Europ. J. Med. Genet. 63: 103619, 2020. Note: Electronic Article.
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|
[PubMed: 30690205]
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[Full Text: https://doi.org/10.1016/j.ejmg.2019.01.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Vega-Saenz de Miera, E., Lau, D. H. P., Zhadina, M., Pountney, D., Coetzee, W. A., Rudy, B.
|
|
<strong>KT3.2 and KT3.3, two novel human two-pore K+ channels closely related to TASK-1.</strong>
|
|
J. Neurophysiol. 86: 130-142, 2001.
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|
|
[PubMed: 11431495]
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[Full Text: https://doi.org/10.1152/jn.2001.86.1.130]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 01/25/2023<br>Hilary J. Vernon - updated : 11/25/2020<br>Carol A. Bocchini - updated : 07/31/2018<br>Ada Hamosh - updated : 12/03/2014<br>Patricia A. Hartz - updated : 10/14/2009<br>Ada Hamosh - updated : 9/8/2008<br>Patricia A. Hartz - updated : 8/18/2008<br>Victor A. McKusick - updated : 7/16/2003<br>Patricia A. Hartz - updated : 11/20/2002
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Yen-Pei C. Chang : 4/24/2001
|
|
</span>
|
|
</div>
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