Entity Details

Primary name KCNQ3
Entity type gene
Source Source Link

Details

PrimaryID3786
RefseqGeneNG_008854
SymbolKCNQ3
Namepotassium voltage-gated channel subfamily Q member 3
Chromosome8
Location8q24.22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-01-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNQ3_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007268 chemical synaptic transmission
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0033268 node of Ranvier
GO:0034765 regulation of ion transmembrane transport
GO:0043194 axon initial segment
GO:0045202 synapse
GO:0060081 membrane hyperpolarization
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
121201 OMIMSeizures, benign familial neonatal 2 (BFNS2)A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions