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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2
Chromosome 21 · 21q22.11
NCBI Gene: 9992Ensembl: ENSG00000159197.5HGNC: HGNC:6242UniProt: Q9Y6J6
93PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
voltage-gated potassium channel complexinward rectifier potassium channel activitydelayed rectifier potassium channel activitypositive regulation of proteasomal protein catabolic processRomano-Ward syndromefamilial atrial fibrillationfamilial long QT syndromecoronary artery disease
✦AI Summary

KCNE2 is a regulatory beta subunit that modulates voltage-gated potassium channel complexes, playing critical roles in cardiac and epithelial physiology 1. As a single-span transmembrane protein, KCNE2 associates with various alpha subunits including KCNH2 to form the rapidly activating delayed rectifier potassium current (IKr) essential for cardiac repolarization, and with KCNQ1 in gastric parietal cells where it functions as a constitutively open, voltage-insensitive luminal potassium channel 2. KCNE2 modulates gating kinetics, channel stability, and current amplitude across multiple tissues including the heart, stomach, thyroid, and choroid plexus 3. Pathogenic KCNE2 mutations cause Long QT syndrome type 6 (LQT6), a cardiac channelopathy characterized by QT interval prolongation and sudden cardiac death risk 45. However, recent evidence-based curation classified KCNE2 among genes with limited or disputed evidence for typical LQTS causation 6, though it remains associated with congenital arrhythmia syndromes. Beyond cardiac manifestations, KCNE2 disruption affects multiple organ systems including gastric acid secretion and cerebrospinal fluid generation, reflecting its broad physiological importance 13. Mutations in KCNE2 represent approximately 2% of identified LQTS-causing variants in clinical cohorts 4.

Sources cited
1
KCNE2 is a regulatory subunit with broad influence across multiple tissues including heart, stomach, thyroid, and choroid plexus; associated with Long QT syndrome and various disease manifestations
PMID: 26123744
2
KCNE2 assembles with KCNQ1 in gastric parietal cells to function as a constitutively open, voltage-insensitive luminal potassium channel involved in acid secretion
PMID: 21897223
3
KCNE2 modulates voltage-dependent potassium and calcium channels in cardiac action potential repolarization and regulates secretory processes in multiple epithelia
PMID: 39272981
4
KCNE2 mutations account for approximately 2% of identified mutations in Long QT syndrome; five genes implicated in Romano-Ward syndrome including KCNE2
PMID: 10973849
5
KCNE2 (LQT6) identified in 1 of 541 consecutive unrelated LQTS patients referred for genetic testing
PMID: 15840476
6
KCNE2 was classified as having limited or disputed evidence as LQTS-causative gene based on evidence-based reappraisal of 17 genes reported to cause congenital Long QT syndrome
PMID: 31983240
Disease Associationsⓘ22
Romano-Ward syndromeOpen Targets
0.74Strong
familial atrial fibrillationOpen Targets
0.61Moderate
familial long QT syndromeOpen Targets
0.41Moderate
coronary artery diseaseOpen Targets
0.30Weak
myocardial infarctionOpen Targets
0.29Weak
angina pectorisOpen Targets
0.28Weak
Myocardial IschemiaOpen Targets
0.28Weak
coronary atherosclerosisOpen Targets
0.28Weak
aneurysmOpen Targets
0.28Weak
cardiovascular diseaseOpen Targets
0.27Weak
cardiac arrhythmiaOpen Targets
0.26Weak
heart diseaseOpen Targets
0.26Weak
migraine disorderOpen Targets
0.26Weak
Iron deficiency anemiaOpen Targets
0.24Weak
intermediate coronary syndromeOpen Targets
0.24Weak
spontaneous coronary artery dissectionOpen Targets
0.22Weak
heart failureOpen Targets
0.22Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
Prolonged QT intervalOpen Targets
0.18Weak
occlusion precerebral arteryOpen Targets
0.18Weak
Atrial fibrillation, familial, 4UniProt
Long QT syndrome 6UniProt
Pathogenic Variants1
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)Pathogenic
Long QT syndrome 3/6, digenic|Congenital long QT syndrome
☆☆☆☆2006→ Residue 60
View on ClinVar ↗
Related Genes
SCN5AProtein interaction100%KCND2Protein interaction100%KCNA5Protein interaction87%GPD1LProtein interaction83%CACNB2Protein interaction81%SCN1BProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Brain
64%
Ovary
40%
Heart
40%
Bone Marrow
26%
Lung
24%
Gene Interaction Network
Click a node to explore
KCNE2SCN5AKCND2KCNA5GPD1LCACNB2SCN1B
PROTEIN STRUCTURE
Preparing viewer…
PDB2M0Q · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.82 [0.42–1.64]
RankingsWhere KCNE2 stands among ~20K protein-coding genes
  • #5,150of 20,598
    Most Researched93
  • #4,911of 5,498
    Most Pathogenic Variants1
  • #15,823of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedKCNE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
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 · 2009
1.00
2
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
PMID: 31983240
Circulation · 2020
0.90
3
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
PMID: 10973849
Circulation · 2000
0.80
4
Gastric secretion.
PMID: 21897223
Curr Opin Gastroenterol · 2011
0.70
5
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID: 15840476
Heart Rhythm · 2005
0.60