Gene:
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1

Overview

Alternate Names: Jervell and Lange-Nielsen syndrome 1; kidney and cardiac voltage dependend K+ channel; long (electrocardiographic) QT syndrome, Ward-Romano syndrome 1; slow delayed rectifier channel subunit
Alternate Symbols: ATFB1; ATFB3; FLJ26167; JLNS1; KCNA8; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT; LQT1; RWS; SQT2; WRS
PharmGKB Accession Id: PA223

Details

Cytogenetic Location: chr11 : p15.5 - p15.4
GP mRNA Boundary: chr11 : 2422797 - 2826916
GP Gene Boundary: chr11 : 2412797 - 2829916
Strand: plus
Product Name: kidney and cardiac voltage dependend K+ channel, long (electrocardiographic) QT syndrome, Ward-Romano syndrome 1, potassium voltage-gated channel, KQT-like subfamily, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 1, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 2, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 3, slow delayed rectifier channel subunit
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Annotations (Curated Annotation)

  1. rs757092 at chr11:2455754 in KCNQ1
    Minor allele G is associated with LQTS1(tagging SNP for QTL haplotype block).
    Variant Name:
    KCNH2:rs757092
    Evidence:
    PMID:15746444
    PMID:17534376
  2. rs1800172 at chr11:2825705 in KCNQ1
    Secondary LQTS1.
    Variant Name:
    KCNQ1:G643S
    Evidence:
    PMID:10973849
    PMID:16723781

Non-Curated Annotations (Non-Curated Annotation)

  1. rs2074238 at chr11:2441379 in KCNQ1
    GWAS results: Common variants at ten loci influence QT interval duation in the QTGEN Study. (Initial Sample Size: 13,685 individuals; Replication Sample Size: 15,854 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs2074238-T); (p-value= 0.00000000000000003).This variant is associated with QT interval.
    Evidence:
    PMID:19305408
    http://www.genome.gov/gwastudies/
  2. rs12296050 at chr11:2445918 in KCNQ1
    GWAS results: Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (Initial Sample Size: 15,842 individuals; Replication Sample Size: up to 13,602 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs12296050-T); (p-value= 0.00000000000000003).This variant is associated with QT interval.
    Evidence:
    PMID:19305409
    http://www.genome.gov/gwastudies/
  3. rs12576239 at chr11:2458895 in KCNQ1
    GWAS results: Common variants at ten loci influence QT interval duation in the QTGEN Study. (Initial Sample Size: 13,685 individuals; Replication Sample Size: 15,854 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs12576239-T); (p-value= 0.000000000000001).This variant is associated with QT interval.
    Evidence:
    PMID:19305408
    http://www.genome.gov/gwastudies/
  4. rs2237892 at chr11:2796327 in KCNQ1
    GWAS results: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. (Initial Sample Size: 187 Japanese cases, 1,504 Japanese controls; Replication Sample Size: 6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish)); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs2237892-C); (p-value= 2E-42).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711367
    http://www.genome.gov/gwastudies/
  5. rs2237897 at chr11:2815122 in KCNQ1
    GWAS results: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (Initial Sample Size: 194 Japanese cases, 1,558 Japanese controls; Replication Sample Size: 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish)); (Region: 11p15.4; Reported Gene(s): KCNQ1; Risk Allele: rs2237897-C); (p-value= 0.0000000000000001).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711366
    http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to refer to the same variant. Non-curated variant information is accumulated solely by computational methods and has not been verified by the scientific staff at PharmGKB.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

PharmGKB Curated Pathways

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antiarrhythmics, class i and iii
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
xenobiotics
  • CO
  • PD
  •   
  •   
  •   
Publications
  Drug Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cisapride
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
epinephrine
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
sibutramine
  • CO
  •   
  •   
  • FA
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Abnormalities, Drug-Induced
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Atrial Fibrillation
  •   
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
congenital long QT syndrome
  •   
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Cystic Fibrosis
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Long QT Syndrome
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Romano-Ward Syndrome
  • CO
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Torsades de Pointes
  • CO
  •   
  •   
  • FA
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Curated Phenotype Datasets

These datasets are sorted alphabetically by title.

Additional Datasets

These datasets are minimally curated and are sorted alphabetically by title.

  1. Effect of KCNQ1 and NPPA Mutations on IKs Properties
  2. Genetic Associations in Drug-induced QT Prolongation and Torsades

Downloads

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LinkOuts

UniProtKB Accesssion:
KCNQ1_HUMAN (P51787)
Ensembl ID:
ENSG00000053918
GenAtlas ID:
KCNQ1
GeneCard ID:
KCNQ1
SOURCE ID:
KCNQ1
MutDB ID:
KCNQ1
PromoLign ID:
ortho_4729
ALFRED ID:
LO004196U
HuGE ID:
KCNQ1
Comparative Toxicogenomics Acc ID:
3784
ModBase:
P51787
IUPHAR Receptor ID:
Kv7.1 (560)

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

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