Human Gene PLCG2 (ENST00000564138.6) from GENCODE V44
Description: Homo sapiens phospholipase C gamma 2 (PLCG2), mRNA. (from RefSeq NM_002661) RefSeq Summary (NM_002661): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000564138.6 Gencode Gene: ENSG00000197943.12 Transcript (Including UTRs) Position: hg38 chr16:81,779,291-81,962,685 Size: 183,395 Total Exon Count: 33 Strand: + Coding Region Position: hg38 chr16:81,785,990-81,957,998 Size: 172,009 Coding Exon Count: 32
ID:PLCG2_HUMAN DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-gamma-2; AltName: Full=Phospholipase C-IV; Short=PLC-IV; AltName: Full=Phospholipase C-gamma-2; Short=PLC-gamma-2; FUNCTION: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling. CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. COFACTOR: Calcium. SUBUNIT: Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) (By similarity). INTERACTION: P19235:EPOR; NbExp=3; IntAct=EBI-617403, EBI-617321; PTM: Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand- induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity. DISEASE: Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:614468]. An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders. SIMILARITY: Contains 1 C2 domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 PI-PLC X-box domain. SIMILARITY: Contains 1 PI-PLC Y-box domain. SIMILARITY: Contains 2 SH2 domains. SIMILARITY: Contains 1 SH3 domain. SEQUENCE CAUTION: Sequence=AAA60112.1; Type=Frameshift; Positions=1242; Sequence=AAQ76815.1; Type=Frameshift; Positions=1242; Sequence=BAD92151.1; Type=Erroneous initiation; Sequence=CAA32194.1; Type=Frameshift; Positions=1242;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P16885
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein P16885 (Reactome details) participates in the following event(s):
R-HSA-5607745 1,3-beta-D-glucan:p-Y15-CLEC7A:SYK phosphorylates PLCG R-HSA-5621356 PLCG1 binds p-6Y-SYK:p-Y65,Y76-FCER1G R-HSA-5607755 p-Y753,Y759-PLCG2 translocates from cytosol to plasma membrane R-HSA-5621347 PLCG2 translocates from cytosol to plasma membrane R-HSA-114689 PLC gamma 2-mediated PIP2 hydrolysis R-HSA-5621363 SYK phosphorylates PLCG2 in p-6Y-SYK:p-Y65,Y76-FCER1G:PLCG2 R-HSA-2029270 Recruitment of PLCgamma to membrane R-HSA-2396606 Recruitment of PLC-gamma to SLP-76 and p-5Y-LAT R-HSA-2029272 Release of PLCG from FCGR R-HSA-2424485 Release of p-PLCG1 R-HSA-5607735 p-Y753,Y759-PLCG2 hydrolyses PIP2 R-HSA-2029268 Phosphorylation and activation of PLCG R-HSA-2396594 Phosphorylation of SLP-76 by p-SYK R-HSA-2730851 Phosphorylation of SLP-76 by p-SYK R-HSA-2424481 Recruitment of VAV and BTK to p-SLP-76 R-HSA-2730892 Recruitment of VAV to p-SLP-76 R-HSA-2424487 Phosphorylation of PLC-gamma by p-BTK/p-SYK R-HSA-2424484 Phosphorylation of BTK by p-SYK R-HSA-2424486 Phosphorylation and activation of VAV2/VAV3 by SYK R-HSA-2730888 Phosphorylation of PLC-gamma R-HSA-2730858 Autophosphorylation of BTK/ITK R-HSA-2730840 Activation of RAC1 by VAV R-HSA-2730841 Phosphorylation and activation of VAV R-HSA-2730885 Recruitment of TEC kinases to p-SLP-76 R-HSA-2730833 Phosphorylation of TEC kinases by p-SYK R-HSA-2730889 Recruitment of PAK to the membrane by binding active RAC1 R-HSA-2730856 Autophosphorylation of PAK R-HSA-1855221 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by tethered PLC[1] at the plasma membrane R-HSA-2424476 Activation of RAC1 by VAV2/3 R-HSA-1112666 BLNK (SLP-65) Signalosome hydrolyzes phosphatidyinositol bisphosphate forming diacylglycerol and inositol-1,4,5-trisphosphate R-HSA-2730847 Hydrolysis of PIP2 by PLCG R-HSA-114604 GPVI-mediated activation cascade R-HSA-5607764 CLEC7A (Dectin-1) signaling R-HSA-5621480 Dectin-2 family R-HSA-76002 Platelet activation, signaling and aggregation R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers R-HSA-2029485 Role of phospholipids in phagocytosis R-HSA-2424491 DAP12 signaling R-HSA-2871796 FCERI mediated MAPK activation R-HSA-5621481 C-type lectin receptors (CLRs) R-HSA-109582 Hemostasis R-HSA-983705 Signaling by the B Cell Receptor (BCR) R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis R-HSA-2172127 DAP12 interactions R-HSA-2454202 Fc epsilon receptor (FCERI) signaling R-HSA-168249 Innate Immune System R-HSA-2871809 FCERI mediated Ca+2 mobilization R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol R-HSA-1483249 Inositol phosphate metabolism R-HSA-1430728 Metabolism
US Server
