Homo sapiens Gene: CACNB2
Summary
InnateDB Gene IDBG-59692.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CACNB2
Gene Name calcium channel, voltage-dependent, beta 2 subunit
Synonyms CACNLB2; CAVB2; MYSB;
Species Homo sapiens
Ensembl Gene ENSG00000165995
Encoded Proteins
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
calcium channel, voltage-dependent, beta 2 subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:18140677-18541869
Strand Forward strand
Band p12.33
Transcripts
ENST00000324631 ENSP00000320025
ENST00000377331 ENSP00000366548
ENST00000377329 ENSP00000366546
ENST00000377328 ENSP00000366545
ENST00000282343 ENSP00000282343
ENST00000377319 ENSP00000366536
ENST00000377315 ENSP00000366532
ENST00000352115 ENSP00000344474
ENST00000396576 ENSP00000379821
ENST00000468177
ENST00000467034
ENST00000498816
ENST00000617363 ENSP00000479756
ENST00000612743 ENSP00000478676
ENST00000612134 ENSP00000480563
ENST00000615785 ENSP00000480260
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0008331 high voltage-gated calcium channel activity
Biological Process
GO:0006810 transport
GO:0007268 synaptic transmission
GO:0007411 axon guidance
GO:0007528 neuromuscular junction development
GO:0007601 visual perception
GO:0034765 regulation of ion transmembrane transport
GO:0051928 positive regulation of calcium ion transport
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Integration of energy metabolism pathway
Developmental Biology pathway
NCAM signaling for neurite out-growth pathway
Adrenaline,noradrenaline inhibits insulin secretion pathway
Neuronal System pathway
NCAM1 interactions pathway
Axon guidance pathway
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels pathway
Transmission across Chemical Synapses pathway
Regulation of insulin secretion pathway
Metabolism pathway
KEGG
MAPK signaling pathway pathway
Cardiac muscle contraction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
GPCR Dopamine D1like receptor signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 783
UniGene
RefSeq NM_201596 NM_201593 NM_201597 NM_001167945 NM_201571 NM_201572 NM_000724 NM_201590 NM_201570 XM_006717502 XM_005252588 XM_005252591
HUGO HGNC:1402
OMIM 600003
CCDS CCDS7125 CCDS7126 CCDS7127 CCDS41493 CCDS7128 CCDS41494 CCDS7129
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 783