Entity Details

Primary name CACNA1G
Entity type gene
Source Source Link

Details

PrimaryID8913
RefseqGeneNG_032024
SymbolCACNA1G
Namecalcium voltage-gated channel subunit alpha1 G
Chromosome17
Location17q21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAC1G_HUMAN

GO terms

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GOName
GO:0001518 voltage-gated sodium channel complex
GO:0003163 sinoatrial node development
GO:0005248 voltage-gated sodium channel activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0007268 chemical synaptic transmission
GO:0008332 low voltage-gated calcium channel activity
GO:0010045 response to nickel cation
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086010 membrane depolarization during action potential
GO:0086015 SA node cell action potential
GO:0086016 AV node cell action potential
GO:0086018 SA node cell to atrial cardiac muscle cell signaling
GO:0086027 AV node cell to bundle of His cell signaling
GO:0086045 membrane depolarization during AV node cell action potential
GO:0086046 membrane depolarization during SA node cell action potential
GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential
GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:0097110 scaffold protein binding

Diseases

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Disease IDSourceNameDescription
616795 OMIMSpinocerebellar ataxia 42 (SCA42)A form of spinocerebellar ataxia, 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. SCA42 is a slowly progressive, autosomal dominant form with variable severity. The disease is caused by variants affecting the gene represented in this entry.
618087 OMIMSpinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND)A form of spinocerebellar ataxia, 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. SCA42ND is an early-onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
CACNA1GUBQLN4BioGRID, HPRD, IntAct16713569 details
CACNA1GRANBP9BioGRID18801335 details
CACNA1GMYCIntAct21150319 details
CACNA1GAGR2BioGRID30575818 details
CACNA1GPLEKHA4BioGRID31091453 details