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CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
783
Gene nameGene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit beta 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CACNB2
SynonymsGene synonyms aliases
CAB2, CACNLB2, CAVB2, MYSB
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.33-p12.31
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs149253719 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs150528041 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs150722502 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs200367454 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs587777742 C>T Pathogenic Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT029034 hsa-miR-26b-5p Microarray 19088304
MIRT051063 hsa-miR-16-5p CLASH 23622248
MIRT628380 hsa-miR-640 HITS-CLIP 23824327
MIRT628381 hsa-miR-203b-3p HITS-CLIP 23824327
MIRT628382 hsa-miR-7158-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IDA 1309651
GO:0005262 Function Calcium channel activity NAS 9594024
GO:0005515 Function Protein binding IPI 17525370, 28130356, 32296183
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane NAS 9594024
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
UniProt ID Q08289
Protein name Voltage-dependent L-type calcium channel subunit beta-2 (CAB2) (Calcium channel voltage-dependent subunit beta 2) (Lambert-Eaton myasthenic syndrome antigen B) (MYSB)
Protein function The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12052 VGCC_beta4Aa_N
72 → 113
Voltage gated calcium channel subunit beta domain 4Aa N terminal
 Domain
PF00625 Guanylate_kin
280 → 460
Guanylate kinase
 Domain
Sequence 
MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTS
SDTTSNSFVRQGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVR
TNVSYSAAHEDDVPVPGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLE
NMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDIDATGLDAEENDIP
ANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMM
QKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIER
IFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLN
VQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTL
ATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHN
HRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDH
RHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ
Sequence length 660
Interactions View interactions

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