Gene
cacnb2b
- ID
- ZDB-GENE-050208-129
- Name
- calcium channel, voltage-dependent, beta 2b
- Symbol
- cacnb2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Predicted to be involved in chemical synaptic transmission; neuromuscular junction development; and regulation of voltage-gated calcium channel activity. 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
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7141271 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- 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 |
| Family | IPR000584 | Voltage-dependent calcium channel, L-type, beta subunit |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
| Protein | Length | 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 subunit |
|---|---|---|---|---|---|---|
|
UniProtKB:B2XY80
|
449 | |||||
|
UniProtKB:C9VXY1
|
439 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacnb2b-201
(1)
|
Ensembl | 1,131 nt | ||
| mRNA |
cacnb2b-202
(1)
|
Ensembl | 1,101 nt | ||
| mRNA |
cacnb2b-203
(1)
|
Ensembl | 1,897 nt | ||
| ncRNA |
cacnb2b-002
(1)
|
Ensembl | 702 nt |
Interactions and Pathways
No data available
Plasmids
No data available