Gene Gene information from NCBI Gene database.
Entrez ID 783
Gene name Calcium voltage-gated channel auxiliary subunit beta 2
Gene symbol CACNB2
Synonyms (NCBI Gene)
CAB2CACNLB2CAVB2MYSB
Chromosome 10
Chromosome location 10p12.33-p12.31
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 autoimmu
SNPs SNP information provided by dbSNP.
6
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.
333
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IDA 1309651
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005262 Function Calcium channel activity IEA
GO:0005262 Function Calcium channel activity NAS 9594024
GO:0005515 Function Protein binding IPI 17525370, 18535142, 28130356, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600003 1402 ENSG00000165995
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1131
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brugada syndrome 4 Pathogenic rs587777742 RCV000144246
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs12356533, rs750396182, rs875989812, rs147857449 RCV005920155
RCV005893900
RCV005893905
RCV005891828
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity rs773215003 RCV000852429
Autism spectrum disorder Uncertain significance rs760538597 RCV000656707
Brugada syndrome Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs150528041, rs149253719, rs149793143, rs143326262, rs144182966, rs373932682, rs750396182, rs875989812, rs758274878, rs886046892, rs886046898, rs547804393, rs367928065, rs752637408, rs886046899
View all (16 more)
RCV000148448
RCV000852600
RCV000148452
RCV000148450
RCV000148451
RCV000590907
RCV000211477
RCV000211519
RCV000390587
RCV000275854
RCV000340972
RCV000266499
RCV000329978
RCV000342052
RCV000292032
RCV000356045
RCV000354385
RCV000363056
RCV000397009
RCV000263604
RCV000297165
RCV000375277
RCV000336097
RCV000406364
RCV000313836
RCV000344277
RCV000324332
RCV000360405
RCV000417288
RCV000590945
RCV000509348
RCV000678782
Associations from Text MiningDisease associations identified through Pubtator
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