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

2012-11-01  

Identity

HGNC
CACNA2D4
LOCATION
12p13.33
LOCUSID
93589
ALIAS
RCD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 93589
MIM: 608171
HGNC: 20202
Ensembl: ENSG00000151062

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151062ENST00000382722Q7Z3S7
ENSG00000151062ENST00000444595E7EUE0
ENSG00000151062ENST00000536846K7ER98
ENSG00000151062ENST00000537784X6RLU5
ENSG00000151062ENST00000537923K7EIY9
ENSG00000151062ENST00000538027X6RLY7
ENSG00000151062ENST00000538450B4DVU4
ENSG00000151062ENST00000545595Q7Z3S7
ENSG00000151062ENST00000585385K7EIY9
ENSG00000151062ENST00000585708Q7Z3S7
ENSG00000151062ENST00000585732K7ER25
ENSG00000151062ENST00000586184Q7Z3S7
ENSG00000151062ENST00000587995K7EJY1
ENSG00000151062ENST00000588077Q7Z3S7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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

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
Muscle contractionREACTOMER-HSA-397014
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
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443459Atrial FibrillationDiseaseLiterature, MultilinkAnnotationassociated24727801
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
121814242002Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.48
224889672012Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.10
265608322016Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.9
318343502019A New Zebrafish Model for CACNA2D4-Dysfunction.2
287265692018Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.1

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