Entity Details

Primary name KCNC3
Entity type gene
Source Source Link

Details

PrimaryID3748
RefseqGeneNG_008134
SymbolKCNC3
Namepotassium voltage-gated channel subfamily C member 3
Chromosome19
Location19q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNC3_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0032590 dendrite membrane
GO:0032591 dendritic spine membrane
GO:0032809 neuronal cell body membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042734 presynaptic membrane
GO:0043204 perikaryon
GO:0045211 postsynaptic membrane
GO:0051260 protein homooligomerization
GO:0051262 protein tetramerization
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
605259 OMIMSpinocerebellar ataxia 13 (SCA13)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KCNC3KCNC4BioGRID, IntAct28514442 details