CACNA1D (calcium voltage-gated channel subunit alpha1 D)

2013-11-01  

Identity

HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3,PASNA,SANDD
FUSION GENES

Other Information

Locus ID:

NCBI: 776
MIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388

Variants:

dbSNP: 776
ClinVar: 776
TCGA: ENSG00000157388
COSMIC: CACNA1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157388ENST00000288139Q01668
ENSG00000157388ENST00000350061Q01668
ENSG00000157388ENST00000422281Q01668
ENSG00000157388ENST00000481085H7C4S8
ENSG00000157388ENST00000481478Q59GD8
ENSG00000157388ENST00000636448A0A1B0GW98
ENSG00000157388ENST00000636570A0A1B0GUN6
ENSG00000157388ENST00000636627A0A1B0GWE1
ENSG00000157388ENST00000636723A0A1B0GWF7
ENSG00000157388ENST00000636938A0A1B0GUB6
ENSG00000157388ENST00000637301A0A1B0GU49
ENSG00000157388ENST00000637424A0A1B0GTN0
ENSG00000157388ENST00000637714A0A1B0GUH2
ENSG00000157388ENST00000638120A0A1B0GTP8
ENSG00000157388ENST00000638129A0A1B0GVI2
ENSG00000157388ENST00000640483A0A1W2PQ56

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
Tight junctionKEGGko04530
GnRH signaling pathwayKEGGko04912
Type II diabetes mellitusKEGGko04930
Alzheimer's diseaseKEGGko05010
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Tight junctionKEGGhsa04530
GnRH signaling pathwayKEGGhsa04912
Type II diabetes mellitusKEGGhsa04930
Alzheimer's diseaseKEGGhsa05010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Amphetamine addictionKEGGhsa05031
Amphetamine addictionKEGGko05031
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Muscle contractionREACTOMER-HSA-397014
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretionREACTOMER-HSA-400042
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
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA448871celecoxibChemicalPathwayassociated22336956
PA451846valproic acidChemicalPathwayassociated23407051

References

Pubmed IDYearTitleCitations
239130012013Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.145
239130042013Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.143
211319532011Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.100
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
248661322014Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.74
252491832015Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.63
184829792008Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219983102011Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels.62
235918842013Dynamic switching of calmodulin interactions underlies Ca2+ regulation of CaV1.3 channels.54

Citation

Dessen P

CACNA1D (calcium voltage-gated channel subunit alpha1 D)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53588/cacna1d-(calcium-voltage-gated-channel-subunit-alpha1-d)