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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNQ1
potassium voltage-gated channel subfamily Q member 1
Chromosome 11 Β· 11p15.5-p15.4
NCBI Gene: 3784Ensembl: ENSG00000053918.21HGNC: HGNC:6294UniProt: P51787
639PubMed Papers
25Diseases
8Drugs
543Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
early endosomeendoplasmic reticulumvoltage-gated potassium channel activitydelayed rectifier potassium channel activitylong QT syndrome 1Jervell and Lange-Nielsen syndrome 1atrial fibrillation, familial, 3Jervell and Lange-Nielsen syndrome
✦AI Summary

KCNQ1 (Kv7.1) is a voltage-gated potassium channel that functions as the pore-forming subunit of the slow delayed rectifier potassium current (IKs) in cardiac tissue 1. In the heart, KCNQ1 heterodimerizes with the beta subunit KCNE1 to mediate ventricular repolarization following action potentials 1. Channel gating is regulated through tissue-specific co-assembly with different KCNE beta subunits (KCNE1-5) and requires phosphatidylinositol-4,5-bisphosphate (PIP2) binding, which triggers conformational changes that dilate the pore gate 2. Beyond cardiac function, KCNQ1 regulates gastric acid secretion, salt homeostasis, and glucose metabolism 2. Loss-of-function KCNQ1 mutations cause Long QT syndrome type 1 (LQT1), characterized by prolonged QT intervals and arrhythmia risk, primarily during exercise 3. Homozygous mutations result in Jervell and Lange-Nielsen syndrome, combining cardiac arrhythmias with congenital deafness 4. Conversely, gain-of-function mutations cause Short QT syndrome with increased sudden death risk 5. Additionally, KCNQ1 polymorphisms (rs2237892, rs2237895) are associated with elevated type 2 diabetes susceptibility 6, though specific mechanistic links to glucose homeostasis require further clarification. KCNQ1-deficient cardiomyocytes demonstrate prolonged action potentials and irregular rhythms, providing models for studying pathogenic mechanisms and drug responses 7.

Sources cited
1
KCNQ1 regulates heart rhythm, gastric acid secretion, salt and glucose homeostasis; gating mechanism involving PIP2 and tissue-specific beta subunit regulation
PMID: 31883792
2
KCNQ1 forms IKs current with KCNE1 in heart; mediates ventricular repolarization following action potential
PMID: 35870481
3
KCNQ1 mutations cause Long QT syndrome type 1; heterozygous mutations cause Romano-Ward syndrome, homozygous cause Jervell and Lange-Nielsen syndrome; dominant-negative or loss-of-function mechanisms; cardiac events primarily during exercise
PMID: 12388934
4
KCNQ1-deficient cardiomyocytes show prolonged action potential duration and irregular rhythm; useful model for studying pathogenic mechanisms and drug screening
PMID: 35765105
5
KCNQ1 gain-of-function mutations cause Short QT syndrome with shortened QT interval and high sudden death risk
PMID: 17497253
6
KCNQ1 rs2237892 and rs2237895 polymorphisms associated with elevated type 2 diabetes susceptibility
PMID: 23133642
7
KCNQ1 mutations cause Jervell and Lange-Nielsen syndrome, characterized by congenital hearing loss and QT prolongation
PMID: 31446697
Disease Associationsβ“˜25
long QT syndrome 1Open Targets
0.86Strong
Jervell and Lange-Nielsen syndrome 1Open Targets
0.80Strong
atrial fibrillation, familial, 3Open Targets
0.75Strong
Jervell and Lange-Nielsen syndromeOpen Targets
0.75Strong
Prolonged QT intervalOpen Targets
0.73Strong
Romano-Ward syndromeOpen Targets
0.73Strong
short QT syndrome type 2Open Targets
0.72Strong
Familial short QT syndromeOpen Targets
0.71Strong
cardiac arrhythmiaOpen Targets
0.70Moderate
type 2 diabetes mellitusOpen Targets
0.64Moderate
multiple sclerosisOpen Targets
0.59Moderate
Abnormality of the cardiovascular systemOpen Targets
0.58Moderate
familial long QT syndromeOpen Targets
0.57Moderate
epilepsyOpen Targets
0.56Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Beckwith-Wiedemann syndromeOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
diabetes mellitusOpen Targets
0.54Moderate
SeizureOpen Targets
0.51Moderate
heart conduction diseaseOpen Targets
0.51Moderate
Atrial fibrillation, familial, 3UniProt
Jervell and Lange-Nielsen syndrome 1UniProt
Long QT syndrome 1UniProt
Short QT syndrome 2UniProt
Type 2 diabetes mellitusUniProt
Pathogenic Variants543
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)Likely pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|KCNQ1-related disorder|Cardiovascular phenotype
β˜…β˜…β˜…β˜†2025β†’ Residue 225
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)Likely pathogenic
Long QT syndrome 1|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 273
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)Pathogenic
Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Cardiac arrhythmia
β˜…β˜…β˜…β˜†2025β†’ Residue 589
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)Likely pathogenic
Long QT syndrome 1, recessive|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1|Congenital long QT syndrome|KCNQ1-related disorder|not specified|Cardiac arrhythmia|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1|Monogenic hearing loss
β˜…β˜…β˜…β˜†2025β†’ Residue 518
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)Pathogenic
Long QT syndrome 1|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 2|Beckwith-Wiedemann syndrome|Congenital long QT syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 344
NM_000218.3(KCNQ1):c.477+1G>ALikely pathogenic
not provided|Long QT syndrome|Long QT syndrome 1|Congenital long QT syndrome|Cardiac arrhythmia|Cardiovascular phenotype
β˜…β˜…β˜…β˜†2025
NM_000218.3(KCNQ1):c.477+5G>ALikely pathogenic
Long QT syndrome|not provided|Congenital long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome
β˜…β˜…β˜…β˜†2025
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)Pathogenic
Long QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 254
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)Likely pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 1
β˜…β˜…β˜…β˜†2025β†’ Residue 366
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)Pathogenic
Jervell and Lange-Nielsen syndrome 1|not provided|Long QT syndrome|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Cardiovascular phenotype|Cardiac arrhythmia|KCNQ1-related disorder|Long QT syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 631
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)Pathogenic
Long QT syndrome|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome 1|not provided|Cardiac arrhythmia|Incidental Discovery
β˜…β˜…β˜†β˜†2026β†’ Residue 302
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)Pathogenic
not provided|Long QT syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 231
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)Pathogenic
not provided|Long QT syndrome 1|Cardiac arrhythmia
β˜…β˜…β˜†β˜†2026β†’ Residue 591
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Long QT syndrome 1|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 555
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)Pathogenic
Congenital long QT syndrome|not provided|Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
β˜…β˜…β˜†β˜†2026β†’ Residue 322
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)Pathogenic
Long QT syndrome|not provided|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Cardiovascular phenotype|Long QT syndrome 1|Cardiac arrhythmia|Jervell and Lange-Nielsen syndrome 1|KCNQ1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 530
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|Long QT syndrome 1|Cardiac arrhythmia
β˜…β˜…β˜†β˜†2026β†’ Residue 266
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)Pathogenic
Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 1|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2|KCNQ1-related disorder|Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2|Cardiovascular phenotype|Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2|Cardiac arrhythmia|Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 362
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)Pathogenic
Long QT syndrome 1|not provided|Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|KCNQ1-related disorder|Cardiac arrhythmia
β˜…β˜…β˜†β˜†2026β†’ Residue 205
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)Pathogenic
Long QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|not provided|Cardiovascular phenotype|Atrial fibrillation, familial, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 505
View on ClinVar β†—
Drug Targets8
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
EZOGABINEApproved
KCNQ (Kv7) potassium channel opener
Seizure
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
AKAP9Protein interaction100%CALM3Protein interaction100%CALML3Protein interaction99%CALML5Protein interaction99%CALML4Protein interaction99%CALML6Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
67%
Lung
39%
Brain
12%
Liver
4%
Ovary
3%
Gene Interaction Network
Click a node to explore
KCNQ1AKAP9CALM3CALML3CALML5CALML4CALML6
PROTEIN STRUCTURE
Preparing viewer…
PDB3HFE Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.57–0.92]
RankingsWhere KCNQ1 stands among ~20K protein-coding genes
  • #353of 20,598
    Most Researched639 Β· top 5%
  • #252of 1,025
    FDA-Approved Drug Targets6 Β· top quartile
  • #96of 5,498
    Most Pathogenic Variants543 Β· top 5%
  • #8,361of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedKCNQ1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Structural Basis of Human KCNQ1 Modulation and Gating.
PMID: 31883792
Cell Β· 2020
1.00
2
Purification and membrane interactions of human KCNQ1
PMID: 35870481
Biochim Biophys Acta Biomembr Β· 2022
0.90
3
Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms.
PMID: 38000475
J Affect Disord Β· 2024
0.84
4
The membrane electric field regulates the PIP
PMID: 37192161
Proc Natl Acad Sci U S A Β· 2023
0.80
5
KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.
PMID: 35765105
Stem Cell Res Ther Β· 2022
0.80