KCNK3 Chromosome 2
Potassium two pore domain channel subfamily K member 3
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What This Gene Does
This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Potassium two pore domain channel subfamily K
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000171303
Associated Conditions (7)
Pulmonary hypertension
primary
4
Inborn genetic diseases
KCNK3-related disorder
Pulmonary arterial hypertension
1
Key Variants
RS150626749
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 4
Health Risk
RS398123040
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 4
Health Risk
RS536179160
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 4
Health Risk
RS773773071
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 4
Health Risk
RS1553387422
Likely pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS398123042
Likely pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS1085307438
Pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS1663450536
Pathogenic
Health Risk
RS2465324094
Pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS398123039
Pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS398123041
Pathogenic
Pulmonary hypertension, primary, 4
Health Risk
RS398123043
Pathogenic
Pulmonary hypertension, primary, 4
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150626749 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 4 |
| RS398123040 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 4 |
| RS536179160 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 4 |
| RS773773071 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 4 |
| RS1553387422 | Health Risk | Likely pathogenic | Pulmonary hypertension, primary, 4 |
| RS398123042 | Health Risk | Likely pathogenic | Pulmonary hypertension, primary, 4 |
| RS1085307438 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 4 |
| RS1663450536 | Health Risk | Pathogenic | — |
| RS2465324094 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 4 |
| RS398123039 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 4 |
| RS398123041 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 4 |
| RS398123043 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 4 |