{"entity":{"id":"kcnq1","kind":"target","name":"KCNQ1","aka":["potassium voltage-gated channel subfamily Q member 1","Potassium voltage-gated channel subfamily KQT member 1","Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1","KCNA9"],"tldr":"KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon. Associates with KCNE beta subunits that modulates current kinetics. Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.92, animal model 0.45, genetic association 0.61, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6294","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294"},{"label":"UniProt P51787","url":"https://www.uniprot.org/uniprotkb/P51787/entry"},{"label":"NCBI Gene 3784","url":"https://www.ncbi.nlm.nih.gov/gene/3784"},{"label":"Ensembl ENSG00000053918","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000053918"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNQ1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6294","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51787","url":"https://www.uniprot.org/uniprotkb/P51787/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000053918","url":"https://platform.opentargets.org/target/ENSG00000053918/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNQ1: RNA tissue enhanced (adrenal gland 196 nTPM, stomach 1 96 nTPM); high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (1 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 2 specific cancer types at or above 0.5 (Lambert-Eaton myasthenic syndrome, Beckwith-Wiedemann syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNQ1 tissue","url":"https://www.proteinatlas.org/ENSG00000053918-KCNQ1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000053918 associations","url":"https://platform.opentargets.org/target/ENSG00000053918/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6294","ensembl":"ENSG00000053918","uniprot":"P51787","entrez":"3784","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sanguinetti M.C. et al, Nature, 1996, \"Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8900283/","biology":"Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon. Associates with KCNE beta subunits that modulates current kinetics. Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current. Also promotes a delayed voltage activated potassium current showing outward rectification characteristic. During beta-adrenergic receptor stimulation, participates in cardiac repolarisation by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current. Location: Cell membrane; Cytoplasmic vesicle membrane; Early endosome; Membrane raft (UniProt). Locus 11p15.5-p15.4 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/kcnq1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}