KCNJ1 Chromosome 11
Potassium inwardly rectifying channel subfamily J member 1
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What This Gene Does
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000151704
Associated Conditions (4)
Bartter disease type 2
Bartter syndrome
Inborn genetic diseases
Renal tubulopathies
Key Variants
RS104894244
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS104894246
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter syndrome, Bartter disease type 2
Health Risk
RS117535913
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS138120505
Conflicting classifications of pathogenicity
Bartter disease type 2, Inborn genetic diseases, Bartter disease type 2
Health Risk
RS139185738
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS139591082
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS139777470
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS142030262
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS147611594
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS147861417
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
RS200320892
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter syndrome, Bartter disease type 2
Health Risk
RS566704910
Conflicting classifications of pathogenicity
Bartter disease type 2, Bartter disease type 2
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772705833 | Health Risk | Pathogenic | — |
| RS779747435 | Health Risk | Pathogenic | Bartter syndrome, Bartter syndrome |
| RS780691086 | Health Risk | Pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS947839654 | Health Risk | Pathogenic | — |
| RS201707868 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS373198476 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS373745258 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS377205432 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS746509804 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS753949204 | Health Risk | Pathogenic/Likely pathogenic | Bartter syndrome, Bartter disease type 2, Bartter syndrome |
| RS762787323 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2 |
| RS764078087 | Health Risk | Pathogenic/Likely pathogenic | Bartter syndrome, Bartter disease type 2, Renal tubulopathies |
| RS764778741 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter syndrome, Bartter disease type 2 |
| RS769554073 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 2, Bartter disease type 2, Bartter disease type 2 |