KCNE3 Chromosome 11
Potassium voltage-gated channel subfamily E regulatory subunit 3
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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 type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channel regulatory subunits
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000175538
Associated Conditions (5)
Brugada syndrome 6
Brugada syndrome
Cardiovascular phenotype
Long QT syndrome
Prolonged QT interval
Key Variants
RS121908441
Conflicting classifications of pathogenicity
Brugada syndrome 6, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS139040374
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 6, Long QT syndrome
Health Risk
RS34604640
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS542842233
Conflicting classifications of pathogenicity
Prolonged QT interval, Brugada syndrome 6, Cardiovascular phenotype
Health Risk
RS547172459
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS547194943
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS565287436
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS745645715
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS755300564
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS761179696
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS773287275
Conflicting classifications of pathogenicity
Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6
Health Risk
RS778413540
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 6, Cardiovascular phenotype
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908441 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Brugada syndrome, Cardiovascular phenotype |
| RS139040374 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 6, Long QT syndrome |
| RS34604640 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS542842233 | Health Risk | Conflicting classifications of pathogenicity | Prolonged QT interval, Brugada syndrome 6, Cardiovascular phenotype |
| RS547172459 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS547194943 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS565287436 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS745645715 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS755300564 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS761179696 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS773287275 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 6, Cardiovascular phenotype, Brugada syndrome 6 |
| RS778413540 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 6, Cardiovascular phenotype |
| RS978419298 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 6, Cardiovascular phenotype |