ITPR2 inositol 1,4,5-trisphosphate receptor type 2
Gene ID: 3709, updated on 28-Oct-2024Gene type: protein coding
Also known as: ANHD; IP3R2; CFAP48; INSP3R2
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- Go to complete Gene record for ITPR2
- Go to Variation Viewer for ITPR2 variants
Summary
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. GeneReviews: Not available | |
| Genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese. GeneReviews: Not available | |
| Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. GeneReviews: Not available | |
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Isolated anhidrosis with normal sweat glands | not available |
| ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. GeneReviews: Not available | |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. GeneReviews: Not available |
Genomic context
- Location:
- 12p11.23
- Sequence:
- Chromosome: 12; NC_000012.12 (26335352..26833194, complement)
- Total number of exons:
- 62
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITPR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/ITPR2 genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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