CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)

2014-11-01 Affiliation

Identity

HGNC

CACNB2

LOCATION

10p12.33

LOCUSID

783

ALIAS

CAB2,CACNLB2,CAVB2,MYSB

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: 783
MIM: 600003
HGNC: 1402
Ensembl: ENSG00000165995

Variants:

dbSNP: 783
ClinVar: 783
TCGA: ENSG00000165995
COSMIC: CACNB2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000165995	ENST00000282343	Q08289
ENSG00000165995	ENST00000324631	Q08289
ENSG00000165995	ENST00000352115	Q08289
ENSG00000165995	ENST00000377315	Q08289
ENSG00000165995	ENST00000377315	Q5VVH1
ENSG00000165995	ENST00000377319	Q08289
ENSG00000165995	ENST00000377328	A6PVM6
ENSG00000165995	ENST00000377329	Q08289
ENSG00000165995	ENST00000377331	A0A2U3TZM7
ENSG00000165995	ENST00000396576	Q08289
ENSG00000165995	ENST00000612134	Q6TME0
ENSG00000165995	ENST00000612743	A0A087WUH4
ENSG00000165995	ENST00000615785	A0A087WWJ0
ENSG00000165995	ENST00000617363	A0A087WVX5
ENSG00000165995	ENST00000643096	A0A2R8Y555
ENSG00000165995	ENST00000644004	A0A2R8YFX9
ENSG00000165995	ENST00000645287	Q08289
ENSG00000165995	ENST00000647168	A0A2R8Y7A6
ENSG00000165995	ENST00000650685	A0A494C0B2
ENSG00000165995	ENST00000651330	A0A494C0C3
ENSG00000165995	ENST00000651468	A0A494C044
ENSG00000165995	ENST00000651928	A0A494C1Q6
ENSG00000165995	ENST00000652391	A0A494C184
ENSG00000165995	ENST00000652478	A0A494C0Z9

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
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
NCAM1 interactions	REACTOME	R-HSA-419037
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
19430479	2009	Genome-wide association study of blood pressure and hypertension.	542
17224476	2007	Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.	218
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
20817017	2010	Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.	116
20817017	2010	Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.	116
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
20479155	2010	Blood pressure and hypertension are associated with 7 loci in the Japanese population.	63
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20386566	2011	Genome-wide association study of bipolar I disorder in the Han Chinese population.	50
20386566	2011	Genome-wide association study of bipolar I disorder in the Han Chinese population.	50

Citation

Dessen P

CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61369/cacnb2