PLCG2
Summary: The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600220 Ensembl IDEnsembl:ENSG00000197943 HGNC IDHGNC:HGNC:9066 PHARMGKB IDPA33393 Map Location16q23.3 | |||||
GO terms in PLCG2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0002092 | positive regulation of receptor internalization |
| BP | TAS | GO:0002223 | stimulatory C-type lectin receptor signaling pathway |
| BP | IEA | GO:0002316 | follicular B cell differentiation |
| BP | IDA | GO:0006661 | phosphatidylinositol biosynthetic process |
| BP | IEA | GO:0009395 | phospholipid catabolic process |
| BP | IEA | GO:0010468 | regulation of gene expression |
Gene expression in normal tissue: PLCG2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PLCG2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | ar_nongenomic_pathway | Nongenotropic Androgen signaling |
| pid | bcr_5pathway | BCR signaling pathway |
| pid | epopathway | EPO signaling pathway |
| pid | pi3kcipathway | Class I PI3K signaling events |
| pharmgkb | PA152530845 | Proton Pump Inhibitor Pathway, Pharmacodynamics |
| pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PLCG2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.