Entity Details

Primary name KCNA2
Entity type gene
Source Source Link

Details

PrimaryID3737
RefseqGeneNG_027997
SymbolKCNA2
Namepotassium voltage-gated channel subfamily A member 2
Chromosome1
Location1p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNA2_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:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0014059 regulation of dopamine secretion
GO:0016021 integral component of membrane
GO:0019228 neuronal action potential
GO:0019233 sensory perception of pain
GO:0030027 lamellipodium
GO:0030424 axon
GO:0030425 dendrite
GO:0031258 lamellipodium membrane
GO:0032809 neuronal cell body membrane
GO:0033010 paranodal junction
GO:0034765 regulation of ion transmembrane transport
GO:0042734 presynaptic membrane
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0044224 juxtaparanode region of axon
GO:0051260 protein homooligomerization
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
616366 OMIMDevelopmental and epileptic encephalopathy 32 (DEE32)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. The disease is caused by variants affecting the gene represented in this entry.