KCNH2 Chromosome 7
Potassium voltage-gated channel subfamily H member 2
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What This Gene Does
This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"Potassium voltage-gated channels|PAS domain containing"
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000055118
Associated Conditions (33)
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype
Cardiac arrhythmia
Brugada syndrome 1
Long QT syndrome 1/2
digenic
Congenital long QT syndrome
Short QT syndrome type 1
Long QT syndrome 2/3
Brugada syndrome
KCNH2-related disorder
Reclassified - variant of unknown significance
Conduction disorder of the heart
Long QT syndrome 1
Hypertrophic cardiomyopathy
Inborn genetic diseases
Primary familial dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy
+13 more conditions
Key Variants
RS1005025657
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome 2, Cardiovascular phenotype
Health Risk
RS1057517866
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS1057520477
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS1057520559
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiac arrhythmia, Long QT syndrome
Health Risk
RS1057520689
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1057523338
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS1060500659
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1060500663
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia
Health Risk
RS1060503994
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome 2, Cardiac arrhythmia
Health Risk
RS1064793146
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1064793147
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiac arrhythmia, Long QT syndrome
Health Risk
RS1064794494
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Cardiac arrhythmia
Health Risk
All Variants (793)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794728382 | Health Risk | Pathogenic | Long QT syndrome 2, Short QT syndrome type 1, Cardiac arrhythmia |
| RS794728393 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS794728394 | Health Risk | Pathogenic | — |
| RS794728399 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome 2, Cardiac arrhythmia |
| RS794728401 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia |
| RS794728403 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome 2, Cardiovascular phenotype |
| RS794728410 | Health Risk | Pathogenic | — |
| RS794728416 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728417 | Health Risk | Pathogenic | — |
| RS794728420 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS794728422 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728423 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728424 | Health Risk | Pathogenic | — |
| RS794728425 | Health Risk | Pathogenic | Long QT syndrome, Cardiac arrhythmia, Long QT syndrome |
| RS794728426 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS794728427 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728428 | Health Risk | Pathogenic | Cardiac arrhythmia, Long QT syndrome, Cardiac arrhythmia |
| RS794728429 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728431 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728433 | Health Risk | Pathogenic | — |
| RS794728434 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS794728435 | Health Risk | Pathogenic | — |
| RS794728436 | Health Risk | Pathogenic | — |
| RS794728438 | Health Risk | Pathogenic | Long QT syndrome 2, Long QT syndrome, Long QT syndrome 2 |
| RS794728439 | Health Risk | Pathogenic | — |
| RS794728443 | Health Risk | Pathogenic | — |
| RS794728444 | Health Risk | Pathogenic | — |
| RS794728445 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728446 | Health Risk | Pathogenic | Long QT syndrome 2, Long QT syndrome 2 |
| RS794728447 | Health Risk | Pathogenic | — |
| RS794728448 | Health Risk | Pathogenic | — |
| RS794728450 | Health Risk | Pathogenic | — |
| RS794728451 | Health Risk | Pathogenic | — |
| RS794728454 | Health Risk | Pathogenic | — |
| RS794728456 | Health Risk | Pathogenic | Long QT syndrome, Cardiac arrhythmia, Long QT syndrome |
| RS794728457 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS794728458 | Health Risk | Pathogenic | Long QT syndrome, Cardiac arrhythmia, Cardiovascular phenotype |
| RS794728459 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS794728460 | Health Risk | Pathogenic | — |
| RS794728461 | Health Risk | Pathogenic | — |
| RS794728462 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Cardiac arrhythmia |
| RS794728463 | Health Risk | Pathogenic | — |
| RS794728465 | Health Risk | Pathogenic | Cardiac arrhythmia, Long QT syndrome 2, Cardiac arrhythmia |
| RS794728466 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS794728467 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiovascular phenotype, Long QT syndrome |
| RS794728468 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS794728469 | Health Risk | Pathogenic | Long QT syndrome, Cardiovascular phenotype, Cardiovascular phenotype |
| RS794728470 | Health Risk | Pathogenic | Long QT syndrome, Cardiac arrhythmia, Cardiovascular phenotype |
| RS794728471 | Health Risk | Pathogenic | — |
| RS794728472 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |