Gene
cacna1eb
- ID
- ZDB-GENE-070705-133
- Name
- calcium channel, voltage-dependent, R type, alpha 1E subunit b
- Symbol
- cacna1eb Nomenclature History
- Previous Names
-
- si:ch211-241e1.2
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion import and chemical synaptic transmission. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in atrium and cardiac ventricle. Orthologous to human CACNA1E (calcium voltage-gated channel subunit alpha1 E).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Haverinen et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 69 | Alliance | Developmental and epileptic encephalopathy 69 | 618285 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR014873 | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
| Domain | IPR031649 | Voltage-dependent L-type calcium channel, IQ-associated domain |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
| Family | IPR050599 | Voltage-dependent calcium channel alpha-1 subunit |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Protein | Length | Ion transport domain | Voltage-dependent calcium channel alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain | Voltage-dependent channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A8B6E8
|
2164 | ||||||
|
UniProtKB:A0A8M6Z0X5
|
2168 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1eb-201
(1)
|
Ensembl | 7,191 nt | ||
| mRNA |
cacna1eb-202
(1)
|
Ensembl | 5,349 nt |
Interactions and Pathways
No data available
Plasmids
No data available