Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
784
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNB3
Synonyms (NCBI Gene) Gene synonyms aliases
CAB3, CACNLB3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 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 11160515
GO:0005246 Function Calcium channel regulator activity ISS
GO:0005515 Function Protein binding IPI 18535142, 32296183
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601958 1403 ENSG00000167535
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
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