ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable high voltage-gated calcium channel activity. Acts upstream of or within epiboly involved in gastrulation with mouth forming second. Predicted to be located in sarcolemma and synapse. Predicted to be part of voltage-gated calcium channel complex. Is expressed in several structures, including cardiovascular system; nervous system; pleuroperitoneal region; presumptive neural retina; and spinal cord neural tube. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and generalized epilepsy. 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 |
| {Epilepsy, idiopathic generalized, susceptibility to, 9} | 607682 | ||
| {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 | Additional Resources | 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 | InterPro | 485 | |||||||
| UniProtKB:B0F0D0 | InterPro | 519 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacnb4a-201
(1)
|
Ensembl | 2,422 nt | ||
| mRNA |
cacnb4a-202
(1)
|
Ensembl | 1,568 nt | ||
| mRNA |
cacnb4a-203
(1)
|
Ensembl | 1,497 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers