CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)

2007-02-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
CACNA2D,CASVDD
FUSION GENES

Other Information

Locus ID:

NCBI: 9254
MIM: 607082
HGNC: 1400
Ensembl: ENSG00000007402

Variants:

dbSNP: 9254
ClinVar: 9254
TCGA: ENSG00000007402
COSMIC: CACNA2D2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007402ENST00000266039Q9NY47
ENSG00000007402ENST00000360963Q9NY47
ENSG00000007402ENST00000423994C9JVC9
ENSG00000007402ENST00000424201Q9NY47
ENSG00000007402ENST00000429770C9JE82
ENSG00000007402ENST00000479441Q9NY47

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
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
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
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
153314242004Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.34
171354192006The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression.30
125550742003CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity.18
256198332015CACNA2D2 promotes tumorigenesis by stimulating cell proliferation and angiogenesis.13
234022982013Combined analysis of circulating β-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects.7
218093942012Alterations of RASSF1A in premalignant cervical lesions: clinical and prognostic significance.4
118513832001Identification of a single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene.1

Citation

Dessen P

CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43966/cacna2d2-(calcium-voltage-gated-channel-auxiliary-subunit-alpha2delta-2)