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 have anion binding activity; calcium ion binding activity; and inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity. Predicted to be involved in release of sequestered calcium ion into cytosol. Predicted to localize to several cellular components, including 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
Expression
All Expression Data
from Ashworth et al., 2007
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With itpr2 Human Ortholog
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
Associated With itpr2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000699 RIH 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
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 Mir domain superfamily MIR motif RIH domain RyR/IP3 receptor binding core, RIH domain superfamily RyR/IP3R Homology associated domain
UniProtKB:F1QW18 1947
UniProtKB:Q1LV14 1666
UniProtKB:X1WET6 2008
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations