KCNJ5 Chromosome 11
Potassium inwardly rectifying channel subfamily J member 5
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What This Gene Does
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000120457
Associated Conditions (8)
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 13
Familial hyperaldosteronism type III
Hypertrophic cardiomyopathy
Aldosterone-producing adrenal adenoma
somatic
Andersen Tawil syndrome
Key Variants
RS1060503834
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS111867535
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 13
Health Risk
RS1272227612
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS142454198
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS147070381
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS148355179
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 13
Health Risk
RS185412918
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome 13, Familial hyperaldosteronism type III
Health Risk
RS200170681
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS201816501
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS369703183
Conflicting classifications of pathogenicity
Familial hyperaldosteronism type III, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS372328307
Conflicting classifications of pathogenicity
Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
Health Risk
RS372447456
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060503834 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS111867535 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 13 |
| RS1272227612 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS142454198 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS147070381 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS148355179 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 13 |
| RS185412918 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 13, Familial hyperaldosteronism type III |
| RS200170681 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS201816501 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS369703183 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Long QT syndrome, Cardiovascular phenotype |
| RS372328307 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS372447456 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS375669366 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS376640553 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS529755922 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS530587789 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Familial hyperaldosteronism type III |
| RS544093099 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS576156828 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS7102584 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS71470654 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS71470655 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS745968243 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 13, Familial hyperaldosteronism type III |
| RS757877367 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 13 |
| RS771919907 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 13, Hypertrophic cardiomyopathy, Long QT syndrome |
| RS780934792 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS866881260 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS868416561 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS886047996 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS947811319 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS145901904 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS386352318 | Health Risk | Likely pathogenic | — |
| RS386352319 | Health Risk | Likely pathogenic | Aldosterone-producing adrenal adenoma, somatic, Familial hyperaldosteronism type III |
| RS387906778 | Health Risk | Pathogenic | Familial hyperaldosteronism type III, Aldosterone-producing adrenal adenoma, somatic |
| RS587777437 | Health Risk | Pathogenic | Familial hyperaldosteronism type III, Long QT syndrome, Familial hyperaldosteronism type III |
| RS587777438 | Health Risk | Pathogenic | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS587777439 | Health Risk | Pathogenic | Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |