Gene
cacna2d2b
- ID
- ZDB-GENE-060503-99
- Name
- calcium channel, voltage-dependent, alpha 2/delta subunit 2b
- Symbol
- cacna2d2b Nomenclature History
- Previous Names
-
- si:ch211-11p18.4
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated calcium channel activity. Predicted to localize to voltage-gated calcium channel complex. Orthologous to human CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2).
- 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 |
---|---|---|---|
Cerebellar atrophy with seizures and variable developmental delay | 618501 |
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 | 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:F1R7M3
|
1052 | |||||
UniProtKB:A0A8M3AM54
|
1089 | |||||
UniProtKB:A0A8M3B5D8
|
1075 | |||||
UniProtKB:A0A8M3AUK1
|
1090 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cacna2d2b-201
(1)
|
Ensembl | 3,635 nt | ||
mRNA |
cacna2d2b-202
(1)
|
Ensembl | 3,644 nt |
Interactions and Pathways
No data available
Plasmids
No data available