• Gene id: 5336

Gene Summary

• Gene Symbol: PLCG2   Gene   UCSC   Ensembl
• Aliases: APLAID, FCAS3, PLC-IV, PLC-gamma-2
• Gene name: phospholipase C gamma 2
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, phosphoinositide phospholipase C-gamma-2, phospholipase C, gamma 2 (phosphatidylinositol-specific), phospholipase C-IV,
• Gene location: 16q23.3 (81779290: 81962684)     Exons: 33     NC_000016.10
• Gene summary(Entrez): 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 an
• OMIM: 609666

Protein Summary

• Protein general information: P16885  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase gamma 2 (EC 3.1.4.11) (Phosphoinositide phospholipase C gamma 2) (Phospholipase C IV) (PLC IV) (Phospholipase C gamma 2) (PLC gamma 2)
  • Length: 1265  
  • Mass: 147870
• Sequence:

  MSTTVNVDSLAEYEKSQIKRALELGTVMTVFSFRKSTPERRTVQVIMETRQVAWSKTADKIEGFLDIMEIKEIRP
  GKNSKDFERAKAVRQKEDCCFTILYGTQFVLSTLSLAADSKEDAVNWLSGLKILHQEAMNASTPTIIESWLRKQI
  YSVDQTRRNSISLRELKTILPLINFKVSSAKFLKDKFVEIGAHKDELSFEQFHLFYKKLMFEQQKSILDEFKKDS
  SVFILGNTDRPDASAVYLHDFQRFLIHEQQEHWAQDLNKVRERMTKFIDDTMRETAEPFLFVDEFLTYLFSRENS
  IWDEKYDAVDMQDMNNPLSHYWISSSHNTYLTGDQLRSESSPEAYIRCLRMGCRCIELDCWDGPDGKPVIYHGWT
  RTTKIKFDDVVQAIKDHAFVTSSFPVILSIEEHCSVEQQRHMAKAFKEVFGDLLLTKPTEASADQLPSPSQLREK
  IIIKHKKLGPRGDVDVNMEDKKDEHKQQGELYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTE
  LHFGEKWFHKKVEKRTSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYY
  LTDNLTFSSIYALIQHYRETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDMLMRIPRDGAFLIRKRE
  GSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYYEKHSLYRKMRLRYPVTPELLERYNMERDIN
  SLYDVSRMYVDPSEINPSMPQRTVKALYDYKAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPSNYVE
  DISTADFEELEKQIIEDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWF
  QSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVETKADSIIRQKPVDLL
  KYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKYMQMNHALFSLNGRTGYVLQPESMRTEKYDP
  MPPESQRKILMTLTVKVLGARHLPKLGRSIACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIY
  DPNLAFLRFVVYEEDMFSDPNFLAHATYPIKAVKSGFRSVPLKNGYSEDIELASLLVFCEMRPVLESEEELYSSC
  RQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSNSKFYS

• Structural information:
  • Protein Domains: (20..13-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (312..45-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270-)
    (532..63-)
    (/note="SH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR011993  IPR001849   IPR001192  IPR016279  IPR028381  IPR035023  IPR035024  IPR017946  IPR035723  IPR000909  IPR001711  IPR000980  IPR036860  IPR036028  IPR001452  
  • Prosite: PS50004 PS50003 PS50007 PS50008 PS50001 PS50002
  • CDD: cd09932 cd10341 cd11969
  • PDB: 2K2J 2W2W 2W2X
  • PDBsum: 2K2J 2W2W 2W2X
  • STRING: ENSP00000482457
• Other Databases: GeneCards:  PLCG2  Malacards:  PLCG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0010634	positive regulation of epithelial cell migration	IBA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0009395	phospholipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0002223	stimulatory C-type lectin receptor signaling pathway	TAS	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050853	B cell receptor signaling pathway	IEA	biological process
GO:0043069	negative regulation of programmed cell death	IEA	biological process
GO:0032237	activation of store-operated calcium channel activity	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0002316	follicular B cell differentiation	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032481	positive regulation of type I interferon production	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0002092	positive regulation of receptor internalization	IEA	biological process
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	IDA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IDA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IDA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IDA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050853	B cell receptor signaling pathway	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0016055	Wnt signaling pathway	TAS	biological process
GO:0019722	calcium-mediated signaling	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa04020	Calcium signaling pathway
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa05205	Proteoglycans in cancer
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05225	Hepatocellular carcinoma
hsa04072	Phospholipase D signaling pathway
hsa04380	Osteoclast differentiation
hsa04611	Platelet activation
hsa04722	Neurotrophin signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04919	Thyroid hormone signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa04064	NF-kappa B signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04666	Fc gamma R-mediated phagocytosis
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04066	HIF-1 signaling pathway
hsa04662	B cell receptor signaling pathway
hsa04012	ErbB signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05214	Glioma
hsa04664	Fc epsilon RI signaling pathway
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa05223	Non-small cell lung cancer
hsa05110	Vibrio cholerae infection
hsa04370	VEGF signaling pathway

Diseases

Associated diseases	References
Familial cold autoinflammatory syndrome	KEGG:H02159
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation	KEGG:H01743
Familial cold autoinflammatory syndrome	KEGG:H02159
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation	KEGG:H01743
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq