ITPR2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600144 Ensembl IDEnsembl:ENSG00000123104 HGNC IDHGNC:HGNC:6181 PHARMGKB IDPA29979 Map Location12p11.23 | |||||
GO terms in ITPR2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0001666 | response to hypoxia |
| BP | TAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0030168 | platelet activation |
| BP | IEA | GO:0048016 | inositol phosphate-mediated signaling |
| BP | TAS | GO:0050796 | regulation of insulin secretion |
| BP | IBA | GO:0051209 | release of sequestered calcium ion into cytosol |
Gene expression in normal tissue: ITPR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ITPR2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-111885 | Opioid Signalling |
| reactome | R-HSA-112040 | G-protein mediated events |
| reactome | R-HSA-112043 | PLC beta mediated events |
| reactome | R-HSA-114508 | Effects of PIP2 hydrolysis |
| reactome | R-HSA-1280218 | Adaptive Immune System |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ITPR2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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