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 enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion transport and chemical synaptic transmission. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in heart; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. 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