Entity Details

Primary name KCNA4
Entity type gene
Source Source Link

Details

PrimaryID3739
RefseqGeneNG_042309
SymbolKCNA4
Namepotassium voltage-gated channel subfamily A member 4
Chromosome11
Location11p14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNA4_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0030955 potassium ion binding
GO:0034765 regulation of ion transmembrane transport
GO:0043197 dendritic spine
GO:0051260 protein homooligomerization
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
618284 OMIMMicrocephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS)An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. The disease may be caused by variants affecting the gene represented in this entry.