CACNA1I (calcium voltage-gated channel subunit alpha1 I)

2015-10-01  

Identity

HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
Cav3.3,ca(v)3.3
FUSION GENES

Other Information

Locus ID:

NCBI: 8911
MIM: 608230
HGNC: 1396
Ensembl: ENSG00000100346

Variants:

dbSNP: 8911
ClinVar: 8911
TCGA: ENSG00000100346
COSMIC: CACNA1I

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100346ENST00000401624Q9P0X4
ENSG00000100346ENST00000402142Q9P0X4
ENSG00000100346ENST00000404898Q9P0X4
ENSG00000100346ENST00000407673Q9P0X4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
119276642002Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.72
152540772004Functional impact of alternative splicing of human T-type Cav3.3 calcium channels.22
277568992016A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity.20
175358092007Selective inhibition of Cav3.3 T-type calcium channels by Galphaq/11-coupled muscarinic acetylcholine receptors.14
254543472015Increased extracellular pressure stimulates tumor proliferation by a mechanosensitive calcium channel and PKC-β.12
307183212019Genome-Wide Association Studies of Impulsive Personality Traits (BIS-11 and UPPS-P) and Drug Experimentation in up to 22,861 Adult Research Participants Identify Loci in the CACNA1I and CADM2 genes.9
185914182008Differential interactions of Na+ channel toxins with T-type Ca2+ channels.8
281656342017Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.8
169398582006CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population.6
234889702013Ethanol inhibition of a T-type Ca²+ channel through activity of protein kinase C.5

Citation

Dessen P

CACNA1I (calcium voltage-gated channel subunit alpha1 I)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55452/cacna1i