KCNE5 Chromosome X
Potassium voltage-gated channel subfamily E regulatory subunit 5
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What This Gene Does
This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
Potassium voltage-gated channel regulatory subunits
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000176076
Associated Conditions (2)
Brugada syndrome
KCNE5-related disorder
Key Variants
RS1251776677
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS374389286
Conflicting classifications of pathogenicity
Brugada syndrome, KCNE5-related disorder, Brugada syndrome
Health Risk
RS757868800
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS764564753
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS764993726
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1251776677 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS374389286 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, KCNE5-related disorder, Brugada syndrome |
| RS757868800 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS764564753 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS764993726 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |