Gene
cacnb2a
- ID
- ZDB-GENE-080808-7
- Name
- calcium channel, voltage-dependent, beta 2a
- Symbol
- cacnb2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Involved in embryonic heart tube morphogenesis. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. Is expressed in several structures, including heart; integument; liver; nervous system; and pleuroperitoneal region. Orthologous to human CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Brugada syndrome 4 | Alliance | Brugada syndrome 4 | 611876 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001452 | SH3 domain |
Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
Domain | IPR035605 | CACNB2, SH3 domain |
Domain | IPR046937 | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
Family | IPR000584 | Voltage-dependent calcium channel, L-type, beta subunit |
Family | IPR005444 | Voltage-dependent calcium channel, L-type, beta-2 subunit |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
Protein | Length | CACNB2, SH3 domain | Guanylate kinase/L-type calcium channel beta subunit | P-loop containing nucleoside triphosphate hydrolase | SH3 domain | SH3-like domain superfamily | Voltage-dependent calcium channel, L-type, beta-2 subunit | Voltage-dependent calcium channel, L-type, beta subunit | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A2SZ54
|
598 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
aberrant processed transcript |
cacnb2a-203
(1)
|
Havana | 1929 nt | |
aberrant processed transcript |
cacnb2a-204
(1)
|
Havana | 2207 nt | |
aberrant processed transcript |
cacnb2a-207
(1)
|
Havana | 2432 nt | |
aberrant processed transcript |
cacnb2a-208
(1)
|
Havana | 2206 nt | |
mRNA |
cacnb2a-201
(1)
|
Havana | 1943 nt | |
mRNA |
cacnb2a-202
(1)
|
Havana | 1795 nt | |
mRNA |
cacnb2a-205
(1)
|
Havana | 1909 nt | |
mRNA |
cacnb2a-206
(1)
|
Havana | 4132 nt |
Interactions and Pathways
No data available
Plasmids
No data available