MGP Database

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MGP001735

UniProt Annotations

Entry Information
Gene Namepotassium channel, two pore domain subfamily K, member 3
Protein EntryKCNK3_HUMAN
UniProt IDO14649
SpeciesHuman
Comments
Comment typeDescription
DiseasePulmonary hypertension, primary, 4 (PPH4) [MIM:615344]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269|PubMed:23883380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionpH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. {ECO:0000269|PubMed:9312005}.
MiscellaneousInhibited by external acidification. Activated by halothane and isoflurane.
SimilarityBelongs to the two pore domain potassium channel (TC 1.A.1.8) family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityWidespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon.
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