ITPR2

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]

Description

Inositol 1,4,5-trisphosphate receptor type 2

Tissue specificity

Tissue enhanced (liver)

Subcell location

Nucleoplasm, Endoplasmic reticulum

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (26335352 - 26833194)

Ensembl ID

ENSG00000123104  (ver. 103.38)

Orthologs

Mouse Itpr2: ENSMUSG00000030287

UniProt

Q14571

neXtProt

NX_Q14571

Human splice variants
Mouse splice variants

Protein structure