Gene
itpr2
- ID
- ZDB-GENE-050419-192
- Name
- inositol 1,4,5-trisphosphate receptor, type 2
- Symbol
- itpr2 Nomenclature History
- Previous Names
-
- si:dkey-196d8.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable inositol 1,4,5 trisphosphate binding activity; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; and phosphatidylinositol binding activity. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane; sarcoplasmic reticulum; and secretory granule membrane. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and isolated anhidrosis with normal sweat glands. Orthologous to human ITPR2 (inositol 1,4,5-trisphosphate receptor type 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ashworth et al., 2007
- 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 |
|---|---|---|---|
| isolated anhidrosis with normal sweat glands | Alliance | ?Anhidrosis, isolated, with normal sweat glands | 106190 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000699 | RIH domain |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013662 | RyR/IP3R Homology associated domain |
| Domain | IPR014821 | Inositol 1,4,5-trisphosphate/ryanodine receptor |
| Domain | IPR016093 | MIR motif |
| Family | IPR000493 | Inositol 1,4,5-trisphosphate receptor |
| Family | IPR015925 | Ryanodine/Inositol 1,4,5-trisphosphate receptor |
| Homologous_superfamily | IPR035910 | RyR/IP3 receptor binding core, RIH domain superfamily |
| Homologous_superfamily | IPR036300 | Mir domain superfamily |
Domain Details Per Protein
| Protein | Length | Inositol 1,4,5-trisphosphate receptor | Inositol 1,4,5-trisphosphate/ryanodine receptor | Ion transport domain | Mir domain superfamily | MIR motif | RIH domain | Ryanodine/Inositol 1,4,5-trisphosphate receptor | RyR/IP3 receptor binding core, RIH domain superfamily | RyR/IP3R Homology associated domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PQQ3
|
2665 |
Interactions and Pathways
No data available
Plasmids
No data available