Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
783
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNB2
Synonyms (NCBI Gene) Gene synonyms aliases
CAB2, CACNLB2, CAVB2, MYSB
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.33-p12.31
Summary Summary 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 autoimmu
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029034 hsa-miR-26b-5p Microarray 19088304
MIRT051063 hsa-miR-16-5p CLASH 23622248
MIRT051063 hsa-miR-16-5p CLASH 23622248
MIRT716916 hsa-miR-548u HITS-CLIP 19536157
MIRT716914 hsa-miR-7161-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600003 1402 ENSG00000165995
Protein
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 Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage dependencies of activation and inactivation of the c
PDB 8HLP , 8HMA , 8HMB
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
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues.
Sequence
MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTS
SDTTSNSFVRQGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVR
TNVSYSAAHEDDVPVPGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLE
NMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDIDATGLDAEENDIP
ANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMM
QKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIER
IFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLN
VQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAY
WKATHPPSSSLPNPLLSRTL
ATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHN
HRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDH
RHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ
Sequence length 660
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Brugada Syndrome Brugada syndrome 1 GenCC
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy GenCC
Short QT Syndrome short QT syndrome GenCC
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anxiety Associate 31181069
Arrhythmias Cardiac Associate 27707468, 37378586
Atrial Fibrillation Associate 24727801, 34737791
Autism Spectrum Disorder Associate 24752249, 31887354, 35122502
Autistic Disorder Associate 24752249, 31887354
Bifid nose Associate 30395415
Bipolar Disorder Associate 30744588, 40016690
Brain Diseases Associate 40016690
Brugada Syndrome Associate 27707468, 35955449
Calcium Metabolism Disorders Associate 24752249