KCNE2

Chr 21

potassium voltage-gated channel subfamily E regulatory subunit 2

Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:10219239, PubMed:11034315, PubMed:11101505, PubMed:12185453, PubMed:20533308). KCNE2 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10219239, PubMed:11034315, PubMed:11101505, PubMed:12185453, PubMed:20533308). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:11101505, PubMed:20533308). Associates with KCNH2/HERG alpha subunit Kv channel to form the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:10219239, PubMed:12185453). May associate with KCNQ2 and/or KCNQ3 alpha subunits to modulate the native M-type current (PubMed:11034315). May associate with HCN1 and HCN2 channel subunits to increase potassium current (By similarity). Forms a heterooligomer complex with KCNQ1/KVLQT1 alpha subunits which leads to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). KCNQ1-KCNE2 channel associates with Na(+)-coupled myo-inositol symporter in the apical membrane of choroid plexus epithelium and regulates the myo-inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability (By similarity)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLong QT syndrome 6
UniProtAtrial fibrillation, familial, 4

Clinical highlights

Gene-disease validity (ClinGen)
long QT syndrome · ADDisputedevidence questions this relationship
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 500 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -0.95
OE 1.57 (0.731.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.96 (0.791.18)
68 obs / 70.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.57 (0.731.94)
00.351.4
Missense OE?0.96 (0.791.18)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 5 / 3.2Missense obs/exp: 68 / 70.7Syn Z: -0.06

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

KCNE2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →