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Gene : ITPR2 Homo sapiens

Name  ? inositol 1,4,5-trisphosphate receptor type 2 Cytological Location  12p11.23
Brief Description  inositol 1,4,5-trisphosphate receptor type 2
Description  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]
  • synonyms:
  • inositol 1,4,5-trisphosphate receptor, type 2,
  • cilia and flagella associated protein 48,
  • OTTHUMG00000169181,
  • ANHD,
  • inositol 1,4,5-triphosphate receptor, type 2,
  • CFAP48,
  • NM_002223,
  • uc001rhg.4,
  • ITPR2,
  • INSP3R2,
  • CFAP48,
  • IP3R2,
  • D26350,
  • IP3R2,
  • HGNC:6181
  • identifiers:
  • 3709,
  • ENSG00000123104,
  • ITPR2

Genome feature

Region: gene ? Length: 497846  
Location: 12:26335352-26833197 reverse strand Cyto location: 12p11.23

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60 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



60 Pathways

3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results