CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3)

2014-11-01  

Identity

HGNC
CACNB3
LOCATION
12q13.12
LOCUSID
784
ALIAS
CAB3,CACNLB3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 784
MIM: 601958
HGNC: 1403
Ensembl: ENSG00000167535

Variants:

dbSNP: 784
ClinVar: 784
TCGA: ENSG00000167535
COSMIC: CACNB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167535ENST00000301050P54284
ENSG00000167535ENST00000536187P54284
ENSG00000167535ENST00000540990P54284
ENSG00000167535ENST00000547230P54284
ENSG00000167535ENST00000547392F8VNV8
ENSG00000167535ENST00000547818F8VUW8
ENSG00000167535ENST00000548279F8VWK1
ENSG00000167535ENST00000548874F8W0F8
ENSG00000167535ENST00000550064F8VU10
ENSG00000167535ENST00000550190H0YHK1
ENSG00000167535ENST00000550391F8VV14
ENSG00000167535ENST00000550483H0YHY2
ENSG00000167535ENST00000551544F8W1N3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
Muscle contractionREACTOMER-HSA-397014
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretionREACTOMER-HSA-400042
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
371966772023EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.11
371966772023EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.11
199176152010The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.19
199176152010The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.19

Citation

Dessen P

CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61370/cacnb3-(calcium-voltage-gated-channel-auxiliary-subunit-beta-3)