CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3)

2008-09-01 Affiliation

Identity

HGNC

CACNA2D3

LOCATION

3p21.1

LOCUSID

55799

ALIAS

HSA272268

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: 55799
MIM: 606399
HGNC: 15460
Ensembl: ENSG00000157445

Variants:

dbSNP: 55799
ClinVar: 55799
TCGA: ENSG00000157445
COSMIC: CACNA2D3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157445	ENST00000288197	Q8IZS8
ENSG00000157445	ENST00000415676	Q8IZS8
ENSG00000157445	ENST00000468658	F8WAV4
ENSG00000157445	ENST00000471363	Q8IZS8
ENSG00000157445	ENST00000474759	Q8IZS8
ENSG00000157445	ENST00000477024	B4DSF6
ENSG00000157445	ENST00000490478	Q8IZS8
ENSG00000157445	ENST00000492460	C9JAV5
ENSG00000157445	ENST00000620722	Q8IZS8

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
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892
Phase 2 - plateau phase	REACTOME	R-HSA-5576893

PharmGKB

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

References

Pubmed ID	Year	Title	Citations
38151212	2024	Remote ischemic preconditioning reduces mitochondrial apoptosis mediated by calpain 1 activation in myocardial ischemia-reperfusion injury through calcium channel subunit Cacna2d3.	0
38151212	2024	Remote ischemic preconditioning reduces mitochondrial apoptosis mediated by calpain 1 activation in myocardial ischemia-reperfusion injury through calcium channel subunit Cacna2d3.	0
36624463	2023	A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma.	0
36624463	2023	A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma.	0
31378653	2019	Genes, biomarkers, and clinical features associated with the course of bipolar disorder.	6
31829940	2019	Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1.	8
31378653	2019	Genes, biomarkers, and clinical features associated with the course of bipolar disorder.	6
31829940	2019	Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1.	8
27583705	2017	CACNA2D3 is downregulated in gliomas and functions as a tumor suppressor.	15
29122566	2017	Mutations of candidate tumor suppressor genes at chromosome 3p in intrahepatic cholangiocarcinoma.	1
27583705	2017	CACNA2D3 is downregulated in gliomas and functions as a tumor suppressor.	15
29122566	2017	Mutations of candidate tumor suppressor genes at chromosome 3p in intrahepatic cholangiocarcinoma.	1
26460247	2015	Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit.	3
26460247	2015	Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit.	3
23324578	2013	Identification of a novel quantitative trait nucleotype related to iron status in a calcium channel gene.	3

Citation

Dessen P

CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50372/tumors-explorer/js/lib/gene-fusions-explorer