ITPR3 inositol 1,4,5-trisphosphate receptor type 3
Gene ID: 3710, updated on 11-Apr-2024Gene type: protein coding
Also known as: IP3R; CMT1J; IP3R3
- See all available tests in GTR for this gene
- Go to complete Gene record for ITPR3
- Go to Variation Viewer for ITPR3 variants
Summary
This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease, demyelinating, type 1J | not available |
| Common body mass index-associated variants confer risk of extreme obesity. GeneReviews: Not available | |
| Common genetic variants associate with serum phosphorus concentration. GeneReviews: Not available | |
| Diabetes mellitus type 1 | See labs |
| Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. GeneReviews: Not available | |
| GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.31
- Sequence:
- Chromosome: 6; NC_000006.12 (33621322..33696562)
- Total number of exons:
- 62
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITPR3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ITPR3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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