KCNE1 Chromosome 21
Potassium voltage-gated channel subfamily E regulatory subunit 1
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What This Gene Does
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channel regulatory subunits
Locus Type
gene with protein product
Location
21q22.12
Ensembl
ENSG00000180509
Associated Conditions (19)
Cardiovascular phenotype
Long QT syndrome 5
Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Rare genetic deafness
Congenital long QT syndrome
KCNE1-related disorder
Cardiomyopathy
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome
Arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 2/5
digenic
acquired
susceptibility to
Sensorineural hearing loss disorder
Hereditary hearing loss and deafness
Key Variants
RS1057522990
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 5, Cardiovascular phenotype
Health Risk
RS1064795410
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1256155089
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 5
Health Risk
RS1308048353
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 5, Long QT syndrome
Health Risk
RS1310229049
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome 5, Cardiovascular phenotype
Health Risk
RS1402178514
Conflicting classifications of pathogenicity
Rare genetic deafness, Long QT syndrome 5, Cardiovascular phenotype
Health Risk
RS142511345
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2
Health Risk
RS144917638
Conflicting classifications of pathogenicity
Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS149338401
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 5
Health Risk
RS149875299
Conflicting classifications of pathogenicity
Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Cardiovascular phenotype
Health Risk
RS150454912
Conflicting classifications of pathogenicity
KCNE1-related disorder, Long QT syndrome 5, Long QT syndrome
Health Risk
RS150458884
Conflicting classifications of pathogenicity
Long QT syndrome 5, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2123457833 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2123460074 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome 5, Long QT syndrome |
| RS28933384 | Health Risk | Pathogenic | Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5 |
| RS758346045 | Health Risk | Pathogenic | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome |
| RS779124360 | Health Risk | Pathogenic | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2 |
| RS1555843898 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS2123459914 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS281865421 | Health Risk | Pathogenic/Likely pathogenic | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome, Long QT syndrome 5 |