Entity Details

Primary name KCNK9
Entity type gene
Source Source Link

Details

PrimaryID51305
RefseqGeneNG_012842
SymbolKCNK9
Namepotassium two pore domain channel subfamily K member 9
Chromosome8
Location8q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNK9_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated 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:0008021 synaptic vesicle
GO:0022841 potassium ion leak channel activity
GO:0030322 stabilization of membrane potential
GO:0071805 potassium ion transmembrane transport
GO:1990573 potassium ion import across plasma membrane

Diseases

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Disease IDSourceNameDescription
612292 OMIMBirk-Barel syndrome (BIBARS)A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
KCNK9COPB1BioGRID23772394 details
KCNK9YWHABBioGRID23772394 details