CACNA1B (calcium voltage-gated channel subunit alpha1 B)

2017-04-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
BIII,CACNL1A5,CACNN,Cav2.2,DYT23,NEDNEH
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
190651432009Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.115
204891792010Strong synaptic transmission impact by copy number variations in schizophrenia.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
168577082006Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels.36
124146902002Mechanosensitivity of N-type calcium channel currents.32
151662372004The alpha2delta auxiliary subunit reduces affinity of omega-conotoxins for recombinant N-type (Cav2.2) calcium channels.25
224913262012Nanodomain Ca²⁺ of Ca²⁺ channels detected by a tethered genetically encoded Ca²⁺ sensor.23
225906482012Distinct RGK GTPases differentially use α1- and auxiliary β-binding-dependent mechanisms to inhibit CaV1.2/CaV2.2 channels.23
156079372005Mechanism of SNARE protein binding and regulation of Cav2 channels by phosphorylation of the synaptic protein interaction site.22
210573792011Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.22

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