Gene Gene information from NCBI Gene database.
Entrez ID 784
Gene name Calcium voltage-gated channel auxiliary subunit beta 3
Gene symbol CACNB3
Synonyms (NCBI Gene)
CAB3CACNLB3
Chromosome 12
Chromosome location 12q13.12
Summary This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regul
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT016710 hsa-miR-335-5p Microarray 18185580
MIRT042695 hsa-miR-196b-5p CLASH 23622248
MIRT857899 hsa-miR-1 CLIP-seq
MIRT857900 hsa-miR-206 CLIP-seq
MIRT857901 hsa-miR-3064-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IDA 11160515
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005245 Function Voltage-gated calcium channel activity TAS 8119293
GO:0005246 Function Calcium channel regulator activity ISS 25527503
GO:0005262 Function Calcium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601958 1403 ENSG00000167535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54284
Protein name Voltage-dependent L-type calcium channel subunit beta-3 (CAB3) (Calcium channel voltage-dependent subunit beta 3)
Protein function Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity
PDB 7MIX , 7MIY , 7UHF , 7UHG , 8E59 , 8E5A , 8E5B , 8EPL , 8FHS , 8WE6 , 8WE7 , 8WE8 , 8WE9 , 8X90 , 8X91 , 8X93
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12052 VGCC_beta4Aa_N 16 58 Voltage gated calcium channel subunit beta domain 4Aa N terminal Domain
PF00625 Guanylate_kin 176 356 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed mostly in brain, colon and ovary. {ECO:0000269|PubMed:8119293}.
Sequence
MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVESQAQQQLERAKHKPV
AFAVRTNVSYCGVLDEECPVQGSGVNFEAKDFLHIKEKYSNDWWIGRLVKEGGDIAFIPS
PQRLESIRLKQEQKARRSGNPSSLSDIGNRRSPPPSLAKQKQKQAEHVPPYDVVPSMRPV
VLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADLSLAKRSVLNNPGKRTIIER
SSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQLAKTSLAPIIVFVKVSSPKVL
QRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDENQLEDACEHLAEYLEVY
WRAT
HHPAPGPGLLGPPSAIPGLQNQQLLGERGEEHSPLERDSLMPSDEASESSRQAWTGSSQR
SSRHLEEDYADAYQDLYQPHRQHTSGLPSANGHDPQDRLLAQDSEHNHSDRNWQRNRPWP
KDSY
Sequence length 484
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Benign rs73298199 RCV005908763
Uterine carcinosarcoma Benign rs73298199 RCV005908764
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 25623948
Carcinoma Non Small Cell Lung Associate 21242119
Epilepsy Associate 37341859
Epilepsy Familial Mesial Temporal Lobe Associate 37341859
Neoplasms Associate 21242119
Polycystic Ovary Syndrome Associate 39754246
Seizures Associate 37341859
Uterine Cervical Neoplasms Associate 35924232