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 enable voltage-gated calcium channel activity. 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. 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