453 lines
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453 lines
51 KiB
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<span>KCNH2</span>
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<div class="rprt"><h1 class="g_title"><span class="gn"><em>KCNH2</em></span> potassium voltage-gated channel subfamily H member 2</h1><span class="geneid">Gene ID: 3757, updated on
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4-Mar-2025</span><br /><span class="geneid">Gene type: protein coding</span><br /><span class="known-as"><em>Also known as: </em>ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1</span><ul class="inline-list" style="padding-left:0;"><li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=3757[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></li><li><a href="/gene/3757/" ref="log_uid=3757&ncbi_uid=3757" data-ga-label="go_to_complete_gene_record">Go to complete Gene record for KCNH2</a></li><li><a href="/variation/view/?assm=GCF_000001405.25&q=KCNH2[gene]" ref="ncbi_uid=3757" data-ga-label="go_to_variation_viewer">Go to Variation Viewer for KCNH2 variants</a></li></ul><h2>Summary</h2><p>This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]</p><div id="associated-conditions"><h2>Associated conditions</h2><p><a href="/gtr/all/tests/?term=3757[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></p><div class="associated-conditions-table"><table class="jig-ncbigrid gtr-associated-cond"><thead><tr><th class="description">Description</th><th>Tests</th></tr></thead><tbody><tr><td>Common variants at ten loci influence QT interval duration in the QTGEN Study.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Common variants at ten loci modulate the QT interval duration in the QTSCD Study.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genetic variation in SCN10A influences cardiac conduction.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Impact of ancestry and common genetic variants on QT interval in African Americans.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C0023976" ref="ncbi_uid=3757&link_uid=C0023976" data-ga-label="condition">Long QT syndrome</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C0023976" ref="ncbi_uid=3757&link_uid=C0023976" data-ga-label="medgen">C0023976</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK1129" ref="ncbi_uid=3757" data-ga-label="gene_reviews">Long QT Syndrome Overview</a></span></div></td><td><a href="/gtr/all/labs/?term=C0023976[DISCUI]" ref="ncbi_uid=3757" data-ga-label="labs">See labs</a></td></tr><tr><td><a href="/gtr/conditions/C3150943" ref="ncbi_uid=3757&link_uid=C3150943" data-ga-label="condition">Long QT syndrome 2</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C3150943" ref="ncbi_uid=3757&link_uid=C3150943" data-ga-label="medgen">C3150943</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/613688" ref="ncbi_uid=3757" data-ga-label="omim"> 613688</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK1129" ref="ncbi_uid=3757" data-ga-label="gene_reviews">Long QT Syndrome Overview</a></span></div></td><td><a href="/gtr/all/labs/?term=C3150943[DISCUI]" ref="ncbi_uid=3757" data-ga-label="labs">See labs</a></td></tr><tr><td>Several common variants modulate heart rate, PR interval and QRS duration.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C1865020" ref="ncbi_uid=3757&link_uid=C1865020" data-ga-label="condition">Short QT syndrome type 1</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1865020" ref="ncbi_uid=3757&link_uid=C1865020" data-ga-label="medgen">C1865020</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/609620" ref="ncbi_uid=3757" data-ga-label="omim"> 609620</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=C1865020[DISCUI]" ref="ncbi_uid=3757" data-ga-label="labs">See labs</a></td></tr></tbody></table></div></div><div id="copy-number-of-resp"><h2>Copy number response</h2><div><table class="jig-ncbigrid gtr-associated-cond" data-jigconfig="isPageable: true, pageSize: 10"><thead><tr><th class="description">Description</th></tr></thead><tbody><tr><td>Copy number response<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Triplosensitivity</span><div><p>No evidence available (Last evaluated 2020-02-26)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=KCNH2">ClinGen Genome Curation Page</a></span></div></div><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Haploinsufficency</span><div><p>Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=KCNH2">ClinGen Genome Curation Page</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/18774102,24530480">PubMed</a></span></div></div></div></td></tr></tbody></table></div></div><div id="genomic-context"><h2>Genomic context</h2><div class="map_location_wr"><div class="ch_location-wr"><dl class="chr_location"><dt>Location:</dt><dd>7q36.1</dd></dl><dl class="chr_location"><dt>Sequence: </dt><dd>Chromosome: 7; NC_000007.14 (150944961..150978321, complement)</dd></dl><dl class="chr_location"><dt>Total number of exons:</dt><dd>20</dd></dl></div><div class="note-link"></div></div><div class="viewer"><div class="choose"><label for="accession" class="label">Genomic Sequence </label><select name="accessionList" sid="1" id="accessionList"><option value="NC_000007.14_150944960_150978320" data-assembly="GRCh38.p14">NC_000007 Chromosome 7 Reference GRCh38.p14 Primary Assembly (location A)</option><option value="NC_000007.13_150642048_150675408" data-assembly="GRCh37.p13">NC_000007 Chromosome 7 Reference GRCh37.p13 Primary Assembly (location B)</option><option value="NC_060931.1_152117823_152151200" data-assembly="T2T-CHM13v2.0">NC_060931 Chromosome 7 Alternate T2T-CHM13v2.0 (location A)</option><option value="NG_008916.1_4612_37970" data-assembly="">NG_008916 RefSeqGene</option></select></div><script type="text/javascript" src="/projects/sviewer/js/sviewer.js" id="autoload"></script><div id="NC_000007" class="divAccession"><div class="seq-viewer"><p class="note-link"><strong>Go to nucleotide</strong><a href="/nuccore/NC_000007.14?report=graph&from=150939956&to=150983324&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000007.14">Graphics</a> <a href="/nuccore/NC_000007.14?report=fasta&from=150939956&to=150983324&strand=true" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000007.14">FASTA</a> <a href="/nuccore/NC_000007.14?report=genbank&from=150939956&to=150983324&strand=true" title="Nucleotide GenBank report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000007.14">GenBank</a> </p><div id="divNC_000007" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000007.14&from=150939956&to=150983324&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"><a href="?appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000007.14&from=150939956&to=150983324&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"></a></div></div></div><input name="nucleotideLink_NC_000007.14" sid="1" type="hidden" id="nucleotideLink_NC_000007_14_150944960_150978320" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000007.14?report=graph&amp;from=150939956&amp;to=150983324&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.14">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000007.14?report=fasta&amp;from=150944961&amp;to=150978321&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.14">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000007.14?report=genbank&amp;from=150944961&amp;to=150978321&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.14">GenBank</a></p>" /><input name="relString_NC_000007.14" sid="1" type="hidden" id="relString_NC_000007_14_150944960_150978320" value="embedded=true&amp;noslider=1&amp;id=NC_000007.14&amp;from=150939956&amp;to=150983324&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NG_008916.1" sid="1" type="hidden" id="nucleotideLink_NG_008916_1_4612_37970" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_008916.1?report=graph&amp;from=1&amp;to=42974&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008916.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_008916.1?report=fasta&amp;from=4613&amp;to=37971" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008916.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_008916.1?report=genbank&amp;from=4613&amp;to=37971" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_008916.1">GenBank</a></p>" /><input name="relString_NG_008916.1" sid="1" type="hidden" id="relString_NG_008916_1_4612_37970" value="embedded=true&amp;noslider=1&amp;id=NG_008916.1&amp;from=1&amp;to=42974&amp;content=5" /><input name="nucleotideLink_NC_060931.1" sid="1" type="hidden" id="nucleotideLink_NC_060931_1_152117823_152151200" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060931.1?report=graph&amp;from=152112816&amp;to=152156207&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060931.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060931.1?report=fasta&amp;from=152117824&amp;to=152151201&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060931.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060931.1?report=genbank&amp;from=152117824&amp;to=152151201&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060931.1">GenBank</a></p>" /><input name="relString_NC_060931.1" sid="1" type="hidden" id="relString_NC_060931_1_152117823_152151200" value="embedded=true&amp;noslider=1&amp;id=NC_060931.1&amp;from=152112816&amp;to=152156207&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NC_000007.13" sid="1" type="hidden" id="nucleotideLink_NC_000007_13_150642048_150675408" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000007.13?report=graph&amp;from=150637044&amp;to=150680412&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.13">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000007.13?report=fasta&amp;from=150642049&amp;to=150675409&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.13">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000007.13?report=genbank&amp;from=150642049&amp;to=150675409&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000007.13">GenBank</a></p>" /><input name="relString_NC_000007.13" sid="1" type="hidden" id="relString_NC_000007_13_150642048_150675408" value="embedded=true&amp;noslider=1&amp;id=NC_000007.13&amp;from=150637044&amp;to=150680412&amp;strand=true&amp;content=5" /></div></div><div id="variation"><h2>Variation</h2><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table class="jig-ncbigrid" data-jigconfig=""><thead><tr><th>Resource</th><th>Links for this gene</th></tr></thead><tbody><tr><td>ClinVar</td><td><a href="/clinvar?LinkName=gene_clinvar&from_uid=3757" ref="log$=recordlinks">Variants reported to ClinVar</a></td></tr><tr><td>dbVar</td><td><a href="/dbvar?LinkName=gene_dbvar&from_uid=3757" ref="log$=recordlinks">Studies and variants</a></td></tr><tr><td>SNP</td><td><a href="https://www.ncbi.nlm.nih.gov/variation/view/?q=KCNH2%5bgenesymbol%5d&filters=source:dbsnp" ref="ncbi_uid=3757">Variation Viewer for KCNH2 variants</a></td></tr><tr><td>Genome viewer</td><td><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?id=GSM923418,GSM923422,GSM923420&context=GEO&assm=GCF_000001405.25&q=KCNH2%5bgenesymbol%5d">Explore NCBI-annotated and select non-NCBI annotated genome assemblies</a></td></tr></tbody></table></div></div></div><div id="related-pubmed"><h2>Related articles in PubMed</h2><dl><dt><a href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=3757" ref="ncbi_uid=3757&from=gtr_gene_related_pubmed_section" data-ga-label="pubmed_omim">PubMed-OMIM</a></dt><dd>publications in PubMed explicitly cited by the gene record in OMIM.
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</dd><dt><a href="/pubmed/clinical/?term=KCNH2" data-ga-label="pubmed_clinical">PubMed Clinical Queries</a></dt><dd>publications in PubMed limited specific clinical
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research.</dd><dt><a href="/pubmed/?LinkName=gene_pubmed&from_uid=3757" data-ga-label="pubmed_all_related">All related articles in PubMed</a></dt><dd>sorted by relevance are shown below. <a href="/pubmed/?LinkName=gene_pubmed&from_uid=3757" data-ga-label="pubmed_all_related">Click to see all (685) citations.</a></dd></dl><div class="generefbl-link"><ol class="generef-link"><li><a href="/pubmed/22517356/" ref="ncbi_uid=3757&link_uid=22517356" data-ga-label="pubmed_article">Proton block of the pore underlies the inhibition of hERG cardiac K+ channels during acidosis.</a><span class="pubmed-auth-date"><br />Van Slyke AC, Cheng YM, Mafi P, Allard CR, Hull CM, Shi YP, Claydon TWVan Slyke AC, <em>et al</em>. Am J Physiol Cell Physiol, 2012 Jun 15. PMID 22517356</span></li><li><a href="/pubmed/21936766/" ref="ncbi_uid=3757&link_uid=21936766" data-ga-label="pubmed_article">The KCNH2 gene is associated with neurocognition and the risk of schizophrenia.</a><span class="pubmed-auth-date"><br />Hashimoto R, Ohi K, Yasuda Y, Fukumoto M, Yamamori H, Kamino K, Morihara T, Iwase M, Kazui H, Takeda MHashimoto R, <em>et al</em>. World J Biol Psychiatry, 2013 Mar. PMID 21936766</span></li><li><a href="/pubmed/17056009/" ref="ncbi_uid=3757&link_uid=17056009" data-ga-label="pubmed_article">hERG K+ channel blockade by the antipsychotic drug thioridazine: An obligatory role for the S6 helix residue F656.</a><span class="pubmed-auth-date"><br />Milnes JT, Witchel HJ, Leaney JL, Leishman DJ, Hancox JCMilnes JT, <em>et al</em>. Biochem Biophys Res Commun, 2006 Dec 8. PMID 17056009</span></li><li><a href="/pubmed/22052838/" ref="ncbi_uid=3757&link_uid=22052838" data-ga-label="pubmed_article">The solution structure of the S4-S5 linker of the hERG potassium channel.</a><span class="pubmed-auth-date"><br />Gayen S, Li Q, Kang CGayen S, <em>et al</em>. J Pept Sci, 2012 Feb. PMID 22052838</span></li><li><a href="/pubmed/22100990/" ref="ncbi_uid=3757&link_uid=22100990" data-ga-label="pubmed_article">Transfection by eukaryotic expression vector pcDNA3-HERG inhibits the cultured neonatal rabbit ventricular myocyte hypertrophy induced by phenylephrine.</a><span class="pubmed-auth-date"><br />Zhao Y, Xu Y, Cui C, Li Y, Zeng YZhao Y, <em>et al</em>. Cardiovasc Pathol, 2012 Jul-Aug. PMID 22100990</span></li></ol></div></div></div>
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