Entity Details

Primary name KCNK3
Entity type gene
Source Source Link

Details

PrimaryID3777
RefseqGeneNG_033884
SymbolKCNK3
Namepotassium two pore domain channel subfamily K member 3
Chromosome2
Location2p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNK3_HUMAN

GO terms

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GOName
GO:0005216 ion channel activity
GO:0005252 open rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0007268 chemical synaptic transmission
GO:0007420 brain development
GO:0008022 protein C-terminus binding
GO:0022841 potassium ion leak channel activity
GO:0030322 stabilization of membrane potential
GO:0034220 ion transmembrane transport
GO:0042493 response to drug
GO:0044548 S100 protein binding
GO:0045202 synapse
GO:0051481 negative regulation of cytosolic calcium ion concentration
GO:0061337 cardiac conduction
GO:0071294 cellular response to zinc ion
GO:0071456 cellular response to hypoxia
GO:0071805 potassium ion transmembrane transport
GO:0090102 cochlea development

Diseases

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Disease IDSourceNameDescription
615344 OMIMPulmonary hypertension, primary, 4 (PPH4)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. The disease is caused by variants affecting the gene represented in this entry.