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 enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane and chemical synaptic transmission. Predicted to act upstream of or within calcium ion transmembrane transport and regulation of monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Predicted to be active in neuronal cell body. Is expressed in atrium and cardiac ventricle. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 69. 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