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

2007-02-01 Affiliation

Identity

HGNC

CACNA2D2

LOCATION

3p21.31

LOCUSID

9254

ALIAS

CACNA2D,CASVDD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000007402	ENST00000266039	Q9NY47
ENSG00000007402	ENST00000360963	Q9NY47
ENSG00000007402	ENST00000423994	C9JVC9
ENSG00000007402	ENST00000424201	Q9NY47
ENSG00000007402	ENST00000429770	C9JE82
ENSG00000007402	ENST00000479441	Q9NY47

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
MAPK signaling pathway	KEGG	hsa04010
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	REACTOME	R-HSA-112308
Muscle contraction	REACTOME	R-HSA-397014
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretion	REACTOME	R-HSA-400042
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892
Phase 2 - plateau phase	REACTOME	R-HSA-5576893

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA448871	celecoxib	Chemical	Pathway	associated			22336956

References

Pubmed ID	Year	Title	Citations
25619833	2015	CACNA2D2 promotes tumorigenesis by stimulating cell proliferation and angiogenesis.	30
25619833	2015	CACNA2D2 promotes tumorigenesis by stimulating cell proliferation and angiogenesis.	30
23402298	2013	Combined analysis of circulating β-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects.	10
23402298	2013	Combined analysis of circulating β-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects.	10
21809394	2012	Alterations of RASSF1A in premalignant cervical lesions: clinical and prognostic significance.	4
21809394	2012	Alterations of RASSF1A in premalignant cervical lesions: clinical and prognostic significance.	4
17135419	2006	The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression.	35
17135419	2006	The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression.	35
15331424	2004	Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.	47
15331424	2004	Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.	47
12555074	2003	CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity.	32
12555074	2003	CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity.	32
11851383	2001	Identification of a single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene.	1
11851383	2001	Identification 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)