Gene
cacnb4a
- ID
- ZDB-GENE-080320-2
- Name
- calcium channel, voltage-dependent, beta 4a subunit
- Symbol
- cacnb4a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Involved in epiboly involved in gastrulation with mouth forming second. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Is expressed in several structures, including cardiovascular system; nervous system; pleuroperitoneal region; presumptive neural retina; and spinal cord neural tube. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ebert et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| episodic ataxia type 5 | Alliance | Episodic ataxia, type 5 | 613855 |
| idiopathic generalized epilepsy 9 | Alliance | {Epilepsy, idiopathic generalized, susceptibility to, 9} | 607682 |
| idiopathic generalized epilepsy 9 | Alliance | {Epilepsy, juvenile myoclonic, susceptibility to, 6} | 607682 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| 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 | IPR008079 | Voltage-dependent calcium channel, L-type, beta-3 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-3 subunit | Voltage-dependent calcium channel, L-type, beta subunit | Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A8WHZ5
|
485 | |||||||
|
UniProtKB:B0F0D0
|
519 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
cacnb4a-202
(1)
|
Havana | 1568 nt | |
| mRNA |
cacnb4a-203
(1)
|
Havana | 1497 nt |
Interactions and Pathways
No data available
Plasmids
No data available