Entity Details

Primary name KCNQ4
Entity type gene
Source Source Link

Details

PrimaryID9132
RefseqGeneNG_008139
SymbolKCNQ4
Namepotassium voltage-gated channel subfamily Q member 4
Chromosome1
Location1p34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-02-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNQ4_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0007605 sensory perception of sound
GO:0008076 voltage-gated potassium channel complex
GO:0009925 basal plasma membrane
GO:0016021 integral component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042472 inner ear morphogenesis
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
600101 OMIMDeafness, autosomal dominant, 2A (DFNA2A)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions