ITPR2 gene

inositol 1,4,5-trisphosphate receptor type 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA.

From NCBI Gene:

  • Anhidrosis, isolated, with normal sweat glands

From UniProt:

Anhidrosis, isolated, with normal sweat glands (ANHD): An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. [MIM:106190]

Cytogenetic Location: 12p11.23, which is the short (p) arm of chromosome 12 at position 11.23

Molecular Location: base pairs 26,335,337 to 26,833,198 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p11.23, which is the short (p) arm of chromosome 12 at position 11.23
  • ANHD
  • CFAP48
  • INSP3R2
  • IP3R2