PLCG2 Gene 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]
Details
| Type | Protein Coding |
| Official Symbol | PLCG2 |
| Official Name | phospholipase C gamma 2 [Source:HGNC Symbol;Acc:HGNC:9066] |
| Ensembl ID | ENSG00000197943 |
| Bio databases IDs | |
| Aliases | phospholipase C gamma 2 |
| Synonyms | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 2,1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase γ 2,APLAID,FCAS3,phospholipase C gamma 2,phospholipase C, gamma 2,phospholipase C-γ-2,phospholipase C, γ 2,PLC-gamma-2,PLC-IV,PLC-γ-2,RP11-960L18.1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- spPH domain
- Phosphatidylinositol-specific phospholipase C, Y domain
- protein kinase binding
- phosphotyrosine binding
- enzyme
- phospholipase C
- protein binding
- Pleckstrin homology-like domain
- EFh_PI-PLC
- Src Homology 3 domain superfamily
- phosphoinositide phospholipase C
- Phosphatidylinositol-specific phospholipase C, X domain
- Phospholipase C, catalytic domain (part: domain X)
- Phospholipase C, catalytic domain (part: domain Y)
- Src homology 2 (SH2) domain
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Pathways
Biological processes and signaling networks where the PLCG2 gene plays a role, providing insight into its function and relevance in health or disease.
- 14-3-3-mediated Signaling
- Antioxidant Action of Vitamin C
- Apelin Cardiomyocyte Signaling Pathway
- Apoptosis Signaling
- Chemokine Signaling
- Corticotropin Releasing Hormone Signaling
- Docosahexaenoic Acid (DHA) Signaling
- eNOS Signaling
- Ephrin A Signaling
- ErbB4 Signaling
- Growth Hormone Signaling
- Gαq Signaling
- HGF Signaling
- Macropinocytosis Signaling
- Neuregulin Signaling
- NF-κB Signaling
- NGF Signaling
- P2Y Purinergic Receptor Signaling Pathway
- Prolactin Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Thrombopoietin Signaling
- TREM1 Signaling
- VEGF Family Ligand-Receptor Interactions
- VEGF Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast carcinoma
- heart disease
- non-insulin-dependent diabetes mellitus
- autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
- venous thromboembolism
- Alzheimer disease
- mantle cell lymphoma
- colorectal cancer
- chronic lymphocytic leukemia
role in cell
- binding in
- phosphorylation in
- expression in
- activation in
- differentiation
- degradation in
- mobilization in
- proliferation
- number
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cytoskeleton
- cell surface
- perinuclear region
- Plasma Membrane
- vesicles
- cytosol
- membrane ruffles
- membrane rafts
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the PLCG2 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- macrophage activation involved in immune response
- phospholipid catabolic process
- response to axon injury
- negative regulation of programmed cell death
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of NF-kappaB transcription factor activity
- follicular B cell differentiation
- Wnt receptor signaling pathway
- positive regulation of tumor necrosis factor production
- regulation of calcineurin-NFAT signaling cascade
- release of sequestered calcium ion into cytosol
- calcium-mediated signaling
- intracellular signal transduction
- B cell differentiation
- positive regulation of receptor internalization
- positive regulation of type I interferon production
- positive regulation of NLRP3 inflammasome complex assembly
- phosphatidylinositol-mediated signaling
- inositol trisphosphate biosynthetic process
- positive regulation of gene expression
- response to yeast
- lipopolysaccharide-mediated signaling pathway
- positive regulation of interleukin-6 production
- positive regulation of phagocytosis, engulfment
- Fc-epsilon receptor signaling pathway
- regulation of I-kappaB kinase/NF-kappaB cascade
- phosphatidylinositol biosynthetic process
- stimulatory C-type lectin receptor signaling pathway
- positive regulation of macrophage cytokine production
- positive regulation of calcium-mediated signaling
- positive regulation of dendritic cell cytokine production
- positive regulation of interleukin-23 production
- cellular response to calcium ion
- cellular response to lipid
- positive regulation of epithelial cell migration
- platelet activation
- positive regulation of peptidyl-tyrosine phosphorylation
- T cell receptor signaling pathway
- B cell receptor signaling pathway
- positive regulation of interleukin-2 production
- phosphatidylinositol metabolic process
- positive regulation of MAPK cascade
- toll-like receptor signaling pathway
- positive regulation of interleukin-12 production
- cell activation
- positive regulation of interleukin-10 production
- regulation of lipid metabolic process
- programmed cell death
cellular COMPONENT
Where in the cell the gene product is active
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- cytoplasm
- membrane raft
- cytosol
- ruffle membrane
- plasma membrane
molecular FUNCTION
What the gene product does at the molecular level
- phosphotyrosine binding
- scaffold protein binding
- protein kinase binding
- phosphatidylinositol phospholipase C activity
- protein binding
- phospholipase C activity