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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
Chromosome 21 Β· 21q22.12
NCBI Gene: 3753Ensembl: ENSG00000180509.14HGNC: HGNC:6240UniProt: A7LFK2
236PubMed Papers
22Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of potassium ion transmembrane transportlysosomedelayed rectifier potassium channel activityvoltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationlong QT syndrome 5Jervell and Lange-Nielsen syndrome 2Romano-Ward syndromeProlonged QT interval
✦AI Summary

KCNE1 is a regulatory beta subunit that modulates voltage-gated potassium (Kv) channel function, with critical roles in cardiac electrophysiology. It primarily associates with KCNQ1 alpha subunits to form the slowly activating delayed rectifier cardiac potassium (IKs) channel essential for ventricular muscle action potential repolarization 1. KCNE1 enhances channel stability and modulates gating kinetics 2, with steady-state outward current reaching completion after approximately 50 seconds 1. The subunit also modulates delayed rectifier Kv channels containing KCNB1 2 and may regulate rapidly activating components of the delayed rectifying potassium current through KCNH2/HERG association 3. KCNE1 mutations cause Long QT syndrome 5 (LQT5) and Jervell and Lange-Nielsen syndrome 2, accounting for approximately 1-3% of identified LQTS mutations in clinical populations 456. The G38S polymorphism significantly increases atrial fibrillation risk across multiple populations 7. In contrast, KCNE1 variants show no significant association with Ménière's disease risk 8. KCNE1 and KCNE3 produce opposite regulatory effects on KCNQ1, with KCNE1 creating slowly-activating channels critical for cardiac repolarization 9, making KCNE1 dysfunction clinically significant for sudden cardiac death prevention.

Sources cited
1
KCNE1 associates with KCNQ1 to form IKs channel and enhances channel stability with steady-state current after 50 seconds
PMID: 20533308
2
KCNE1 modulates gating kinetics of Kv channels and alters delayed rectifier channels containing KCNB1
PMID: 19219384
3
KCNE1 assembly with KCNH2/HERG may regulate rapidly activating delayed rectifying potassium current
PMID: 9230439
4
KCNE1 mutations cause 3% of LQTS mutations and Jervell and Lange-Nielsen syndrome with autosomal recessive inheritance
PMID: 10973849
5
KCNE1 mutations identified in 1-2% of LQTS patients referred for genetic testing
PMID: 15840476
6
KCNE1 is one of five major LQTS susceptibility genes screened in clinical genetic testing
PMID: 19716085
7
KCNE1 G38S polymorphism significantly increases atrial fibrillation risk in multiple populations
PMID: 28640127
8
KCNE1 rs1805127 variant shows no significant association with Ménière's disease risk
PMID: 26890422
9
KCNE1 forms slowly-activating IKs channels essential for ventricular repolarization with opposite effects to KCNE3
PMID: 26410412
Disease Associationsβ“˜22
long QT syndrome 5Open Targets
0.80Strong
Jervell and Lange-Nielsen syndrome 2Open Targets
0.77Strong
Romano-Ward syndromeOpen Targets
0.64Moderate
Prolonged QT intervalOpen Targets
0.55Moderate
Jervell and Lange-Nielsen syndromeOpen Targets
0.54Moderate
Abnormality of the cardiovascular systemOpen Targets
0.52Moderate
Jervell and Lange-Nielsen syndrome 1Open Targets
0.40Moderate
familial long QT syndromeOpen Targets
0.37Weak
Sensorineural hearing impairmentOpen Targets
0.34Weak
sensorineural hearing lossOpen Targets
0.34Weak
neuroinflammatory disorderOpen Targets
0.33Weak
upper extremity fractureOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.28Weak
renal osteodystrophyOpen Targets
0.28Weak
dilated cardiomyopathyOpen Targets
0.27Weak
Rare genetic deafnessOpen Targets
0.27Weak
arrhythmogenic right ventricular cardiomyopathyOpen Targets
0.15Weak
cardiomyopathyOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
sudden infant death syndromeOpen Targets
0.12Weak
Jervell and Lange-Nielsen syndrome 2UniProt
Long QT syndrome 5UniProt
Pathogenic Variants21
NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro)Pathogenic
Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|not provided|Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5
β˜…β˜…β˜†β˜†2025β†’ Residue 58
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)Pathogenic
not provided|Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 5
NM_000219.6(KCNE1):c.20_23dup (p.Val9fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)Pathogenic
not provided|Long QT syndrome|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 76
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)Pathogenic
Jervell and Lange-Nielsen syndrome 2|Long QT syndrome|Sensorineural hearing loss disorder|Long QT syndrome 5
β˜…β˜…β˜†β˜†2024β†’ Residue 17
NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg)Likely pathogenic
Congenital long QT syndrome|Long QT syndrome 5|Long QT syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 87
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met)Likely pathogenic
Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 5
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala)Likely pathogenic
not provided|Long QT syndrome 5|Long QT syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 52
NM_000219.6(KCNE1):c.76_92del (p.Asn26fs)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 26
NM_000219.6(KCNE1):c.122del (p.Lys41fs)Pathogenic
Jervell and Lange-Nielsen syndrome 1
β˜…β˜†β˜†β˜†2025β†’ Residue 41
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter)Pathogenic
Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Long QT syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)Pathogenic
Long QT syndrome|Long QT syndrome 5
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 68
NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)Likely pathogenic
not provided|Long QT syndrome 5
β˜…β˜†β˜†β˜†2022β†’ Residue 88
NM_000219.6(KCNE1):c.230del (p.Pro77fs)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 77
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)Pathogenic
Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 5
β˜…β˜†β˜†β˜†2020β†’ Residue 52
NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter)Likely pathogenic
not provided|Long QT syndrome 5
β˜…β˜†β˜†β˜†2019β†’ Residue 90
NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)Likely pathogenic
not provided|Long QT syndrome 5
β˜…β˜†β˜†β˜†2014β†’ Residue 73
NM_000219.6(KCNE1):c.94dup (p.Arg32fs)Pathogenic
Genetic hearing loss;Long QT syndrome
β˜†β˜†β˜†β˜†2019β†’ Residue 32
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter)Pathogenic
Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5
β˜†β˜†β˜†β˜†2018β†’ Residue 17
View on ClinVar β†—
Related Genes
KCNC4Protein interaction99%KCND2Protein interaction99%SCN5AProtein interaction97%PRKACAProtein interaction97%KCNQ2Protein interaction97%PRKACBProtein interaction96%
Tissue Expression6 tissues
Lung
100%
Liver
49%
Bone Marrow
24%
Brain
13%
Heart
12%
Ovary
3%
Gene Interaction Network
Click a node to explore
KCNE1KCNC4KCND2SCN5APRKACAKCNQ2PRKACB
PROTEIN STRUCTURE
Preparing viewer…
PDB9VEC Β· 2.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.43LoF Tolerant
pLIβ“˜
0.52Intermediate
Observed/Expected LoF0.00 [0.00–1.43]
RankingsWhere KCNE1 stands among ~20K protein-coding genes
  • #1,672of 20,598
    Most Researched236 Β· top 10%
  • #2,128of 5,498
    Most Pathogenic Variants21
  • #14,692of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedKCNE1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
PMID: 19716085
Heart Rhythm Β· 2009
1.00
2
Interpreting secondary cardiac disease variants in an exome cohort.
PMID: 23861362
Circ Cardiovasc Genet Β· 2013
0.90
3
Variants in the KCNE1 or KCNE3 gene and risk of Ménière's disease: A meta-analysis.
PMID: 26890422
J Vestib Res Β· 2016
0.80
4
[Jervell and Lange-Nielsen syndrome].
PMID: 31446697
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Β· 2019
0.72
5
Association between KCNE1 G38S gene polymorphism and risk of atrial fibrillation: A PRISMA-compliant meta-analysis.
PMID: 28640127
Medicine (Baltimore) Β· 2017
0.70