CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4)

2012-11-01 Affiliation

Identity

HGNC

CACNA2D4

LOCATION

12p13.33

LOCUSID

93589

ALIAS

RCD4

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: 93589
MIM: 608171
HGNC: 20202
Ensembl: ENSG00000151062

Variants:

dbSNP: 93589
ClinVar: 93589
TCGA: ENSG00000151062
COSMIC: CACNA2D4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000151062	ENST00000382722	Q7Z3S7
ENSG00000151062	ENST00000444595	E7EUE0
ENSG00000151062	ENST00000536846	K7ER98
ENSG00000151062	ENST00000537784	X6RLU5
ENSG00000151062	ENST00000537923	K7EIY9
ENSG00000151062	ENST00000538027	X6RLY7
ENSG00000151062	ENST00000538450	B4DVU4
ENSG00000151062	ENST00000545595	Q7Z3S7
ENSG00000151062	ENST00000585385	K7EIY9
ENSG00000151062	ENST00000585708	Q7Z3S7
ENSG00000151062	ENST00000585732	K7ER25
ENSG00000151062	ENST00000586184	Q7Z3S7
ENSG00000151062	ENST00000587995	K7EJY1
ENSG00000151062	ENST00000588077	Q7Z3S7

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
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443459	Atrial Fibrillation	Disease	Literature, MultilinkAnnotation	associated			24727801
PA448871	celecoxib	Chemical	Pathway	associated			22336956

References

Pubmed ID	Year	Title	Citations
31834350	2019	A New Zebrafish Model for CACNA2D4-Dysfunction.	7
31834350	2019	A New Zebrafish Model for CACNA2D4-Dysfunction.	7
28726569	2018	Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.	1
28726569	2018	Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.	1
26560832	2016	Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.	21
26560832	2016	Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.	21
22488967	2012	Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.	16
22488967	2012	Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.	16
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
12181424	2002	Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.	60
12181424	2002	Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.	60

Citation

Dessen P

CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52976/cacna2d4-(calcium-voltage-gated-channel-auxiliary-subunit-alpha2delta-4)