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KCNQ1 potassium voltage-gated channel subfamily Q member 1

Gene ID: 3784, updated on 29-Mar-2023
Gene type: protein coding
Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1

Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
GeneReviews: Not available
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
GeneReviews: Not available
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
GeneReviews: Not available
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
GeneReviews: Not available
A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.
GeneReviews: Not available
Atrial fibrillation, familial, 3
MedGen: C1837014OMIM: 607554GeneReviews: Not available
See labs
Beckwith-Wiedemann syndromeSee labs
Common variants at ten loci influence QT interval duration in the QTGEN Study.
GeneReviews: Not available
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
GeneReviews: Not available
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
GeneReviews: Not available
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available
Genome-wide association study identifies three novel loci for type 2 diabetes.
GeneReviews: Not available
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
GeneReviews: Not available
Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.
GeneReviews: Not available
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Impact of ancestry and common genetic variants on QT interval in African Americans.
GeneReviews: Not available
Jervell and Lange-Nielsen syndrome 1See labs
Long QT syndrome
MedGen: C0023976GeneReviews: Long QT Syndrome
See labs
Long QT syndrome 1
MedGen: C4551647OMIM: 192500GeneReviews: Long QT Syndrome
See labs
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
GeneReviews: Not available
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available
Short QT syndrome type 2
MedGen: C1865019OMIM: 609621GeneReviews: Not available
See labs
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
GeneReviews: Not available
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
GeneReviews: Not available
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
11p15.5-p15.4
Sequence:
Chromosome: 11; NC_000011.10 (2445008..2849105)
Total number of exons:
19

Links

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