Gene
cacna2d1a
- ID
- ZDB-GENE-041210-215
- Name
- calcium channel, voltage-dependent, alpha 2/delta subunit 1a
- Symbol
- cacna2d1a Nomenclature History
- Previous Names
-
- si:ch211-251k4.1
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated calcium channel activity. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of L-type voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 110. Orthologous to human CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 110 | Alliance | Developmental and epileptic encephalopathy 110 | 620149 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR013608 | VWA N-terminal |
| Domain | IPR013680 | Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region |
| Family | IPR051173 | Voltage-dependent calcium channel subunit alpha-2/delta |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region | Voltage-dependent calcium channel subunit alpha-2/delta | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A | VWA N-terminal |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ARM5 | InterPro | 1092 | |||||
| UniProtKB:A0A8M2BBW2 | InterPro | 1083 | |||||
| UniProtKB:A0A8M3B8Y7 | InterPro | 1093 | |||||
| UniProtKB:Q5TZ68 | InterPro | 1069 | |||||
| UniProtKB:A0A8M3AYS1 | InterPro | 1085 | |||||
| UniProtKB:E7F4T2 | InterPro | 1091 | |||||
| UniProtKB:A0AB32TQ93 | InterPro | 1090 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna2d1a-201
(1)
|
Ensembl | 3,305 nt | ||
| mRNA |
cacna2d1a-202
(1)
|
Ensembl | 3,826 nt | ||
| mRNA |
cacna2d1a-203
(1)
|
Ensembl | 3,928 nt |
Interactions and Pathways
No data available
Plasmids
No data available