CACNA1B (calcium voltage-gated channel subunit alpha1 B)

2017-04-01  

Identity

HGNC
CACNA1B
LOCATION
9q34.3
LOCUSID
774
ALIAS
BIII,CACNL1A5,CACNN,Cav2.2,DYT23,NEDNEH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 774
MIM: 601012
HGNC: 1389
Ensembl: ENSG00000148408

Variants:

dbSNP: 774
ClinVar: 774
TCGA: ENSG00000148408
COSMIC: CACNA1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148408ENST00000277549E9PDR3
ENSG00000148408ENST00000277551Q00975
ENSG00000148408ENST00000371355F6RH32
ENSG00000148408ENST00000371357B1AQK7
ENSG00000148408ENST00000371363B1AQK6
ENSG00000148408ENST00000371372Q00975
ENSG00000148408ENST00000413253H0Y7I8

Expression (GTEx)

0
10
20
30
40
50
60
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
Calcium signaling pathwayKEGGko04020
Type II diabetes mellitusKEGGko04930
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Type II diabetes mellitusKEGGhsa04930
Cholinergic synapseKEGGhsa04725
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
381578672024An orally available Ca(v)2.2 calcium channel inhibitor for the treatment of neuropathic pain.0
381578672024An orally available Ca(v)2.2 calcium channel inhibitor for the treatment of neuropathic pain.0
331001162022CACNA1B facilitates breast cancer cell growth and migration by regulating cyclin D1 and EMT: the implication of CACNA1B in breast cancer.1
357770452022High expression of N-type calcium channel indicates a favorable prognosis in gliomas.1
361379952022Ca(v)2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.8
331001162022CACNA1B facilitates breast cancer cell growth and migration by regulating cyclin D1 and EMT: the implication of CACNA1B in breast cancer.1
357770452022High expression of N-type calcium channel indicates a favorable prognosis in gliomas.1
361379952022Ca(v)2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.8
330517502021CACNA1B gene variants in adult-onset isolated focal dystonia.5
333608352021Ca(V)2.2 (N-type) voltage-gated calcium channels are activated by SUMOylation pathways.2
342343492021Structure of human Ca(v)2.2 channel blocked by the painkiller ziconotide.50
347316212021Closed-state inactivation and pore-blocker modulation mechanisms of human Ca(V)2.2.25
330517502021CACNA1B gene variants in adult-onset isolated focal dystonia.5
333608352021Ca(V)2.2 (N-type) voltage-gated calcium channels are activated by SUMOylation pathways.2
342343492021Structure of human Ca(v)2.2 channel blocked by the painkiller ziconotide.50

Citation

Dessen P

CACNA1B (calcium voltage-gated channel subunit alpha1 B)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56879/cacna1b-(calcium-voltage-gated-channel-subunit-alpha1-b)