KCNE2 Chromosome 21
Potassium voltage-gated channel subfamily E regulatory subunit 2
Upload your DNA to see your personal genotypes for variants in KCNE2.
What This Gene Does
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channel regulatory subunits
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159197
Associated Conditions (15)
Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 6
Atrial fibrillation
familial
4
Cardiovascular phenotype
Acquired long QT syndrome
Hypertrophic cardiomyopathy
drug-associated
Cardiac arrhythmia
KCNE2-related disorder
Primary familial hypertrophic cardiomyopathy
Long QT syndrome 3/6
digenic
Key Variants
RS141423405
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6
Health Risk
RS143767851
Conflicting classifications of pathogenicity
Long QT syndrome 6, Atrial fibrillation, familial
Health Risk
RS148968498
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6
Health Risk
RS150790888
Conflicting classifications of pathogenicity
Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation
Health Risk
RS1555837082
Conflicting classifications of pathogenicity
Long QT syndrome 6, Cardiovascular phenotype, Long QT syndrome 6
Health Risk
RS183427173
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 6, Cardiovascular phenotype
Health Risk
RS187917779
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation
Health Risk
RS199473365
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS199473367
Conflicting classifications of pathogenicity
Acquired long QT syndrome, Long QT syndrome 6, Acquired long QT syndrome
Health Risk
RS199473648
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6
Health Risk
RS200403369
Conflicting classifications of pathogenicity
Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation
Health Risk
RS2234916
Conflicting classifications of pathogenicity
Long QT syndrome, drug-associated, Cardiovascular phenotype
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141423405 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6 |
| RS143767851 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Atrial fibrillation, familial |
| RS148968498 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6 |
| RS150790888 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation |
| RS1555837082 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Cardiovascular phenotype, Long QT syndrome 6 |
| RS183427173 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 6, Cardiovascular phenotype |
| RS187917779 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation |
| RS199473365 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype |
| RS199473367 | Health Risk | Conflicting classifications of pathogenicity | Acquired long QT syndrome, Long QT syndrome 6, Acquired long QT syndrome |
| RS199473648 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 6 |
| RS200403369 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation |
| RS2234916 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, drug-associated, Cardiovascular phenotype |
| RS41315511 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 4 |
| RS45610936 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation |
| RS542835031 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS558860396 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Atrial fibrillation, familial |
| RS72550218 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 4 |
| RS74315448 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation |
| RS74315449 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 4 |
| RS74424227 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome 6 |
| RS751276927 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation |
| RS751931568 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 6, Long QT syndrome 6 |
| RS74315447 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Long QT syndrome 6, Congenital long QT syndrome, KCNE2-related disorder |
| RS16991654 | Health Risk | Pathogenic | Long QT syndrome 3/6, digenic, Congenital long QT syndrome |