CACNA1G (calcium voltage-gated channel subunit alpha1 G)

2003-02-01  

Identity

HGNC
LOCATION
17q21.33
LOCUSID
ALIAS
Ca(V)T.1,Cav3.1,NBR13,SCA42,SCA42ND
FUSION GENES

Other Information

Locus ID:

NCBI: 8913
MIM: 604065
HGNC: 1394
Ensembl: ENSG00000006283

Variants:

dbSNP: 8913
ClinVar: 8913
TCGA: ENSG00000006283
COSMIC: CACNA1G

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006283ENST00000352832O43497
ENSG00000006283ENST00000354983O43497
ENSG00000006283ENST00000358244O43497
ENSG00000006283ENST00000359106O43497
ENSG00000006283ENST00000360761O43497
ENSG00000006283ENST00000416767A0A0B4J1X2
ENSG00000006283ENST00000429973O43497
ENSG00000006283ENST00000442258O43497
ENSG00000006283ENST00000502264O43497
ENSG00000006283ENST00000503436O43497
ENSG00000006283ENST00000503485O43497
ENSG00000006283ENST00000503607O43497
ENSG00000006283ENST00000504076O43497
ENSG00000006283ENST00000505165O43497
ENSG00000006283ENST00000506406O43497
ENSG00000006283ENST00000506520H0YAN0
ENSG00000006283ENST00000507336O43497
ENSG00000006283ENST00000507510O43497
ENSG00000006283ENST00000507609O43497
ENSG00000006283ENST00000507896O43497
ENSG00000006283ENST00000510115O43497
ENSG00000006283ENST00000510366O43497
ENSG00000006283ENST00000511765O43497
ENSG00000006283ENST00000511768O43497
ENSG00000006283ENST00000512389O43497
ENSG00000006283ENST00000513689O43497
ENSG00000006283ENST00000513964O43497
ENSG00000006283ENST00000514079O43497
ENSG00000006283ENST00000514181O43497
ENSG00000006283ENST00000514717O43497
ENSG00000006283ENST00000515165O43497
ENSG00000006283ENST00000515411O43497
ENSG00000006283ENST00000515765O43497
ENSG00000006283ENST00000570567I3L2W8

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
Type II diabetes mellitusKEGGko04930
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Type II diabetes mellitusKEGGhsa04930
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
175919292007Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample.156
119276642002Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.72
192118692009Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy.49
157748562005Low-voltage-activated (T-type) calcium channels control proliferation of human pulmonary artery myocytes.39
166710742006Profiling the array of Ca(v)3.1 variants from the human T-type calcium channel gene CACNA1G: alternative structures, developmental expression, and biophysical variations.32
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
264562842015A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.26
194551492010High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.24
173970492007Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.22
173970492007Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.22

Citation

Dessen P

CACNA1G (calcium voltage-gated channel subunit alpha1 G)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/901/cacna1g