GENETIC ENCYCLOPEDIA
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gene: ITPR2

id3709
symbolITPR2
organismHomo sapiens
full nameinositol 1,4,5-trisphosphate receptor type 2
summaryThe 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]
variant-disease

NM_002223.3(ITPR2):c.7492G>A (p.Gly2498Ser) AND Anhidrosis, isolated, with normal sweat glands

NM_002223.3(ITPR2):c.3485T>G (p.Val1162Gly) AND not provided

GRCh37/hg19 12p12.1-11.23(chr12:26495347-26981068)x1 AND not provided

GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3 AND See cases

GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 AND See cases

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