Gene Gene information from NCBI Gene database.
Entrez ID 5336
Gene name Phospholipase C gamma 2
Gene symbol PLCG2
Synonyms (NCBI Gene)
APLAIDFCAS3PLC-IVPLC-gamma-2
Chromosome 16
Chromosome location 16q23.3
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 an
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs189301790 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397514562 C>A Pathogenic Missense variant, coding sequence variant
rs1057519831 C>T Likely-pathogenic Coding sequence variant, missense variant
rs1057519832 A>C,G,T Likely-pathogenic Coding sequence variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
536
miRTarBase ID miRNA Experiments Reference
MIRT019144 hsa-miR-335-5p Microarray 18185580
MIRT654989 hsa-miR-4680-3p HITS-CLIP 23824327
MIRT654988 hsa-miR-4703-3p HITS-CLIP 23824327
MIRT654987 hsa-miR-181b-2-3p HITS-CLIP 23824327
MIRT654986 hsa-miR-181b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
126
GO ID Ontology Definition Evidence Reference
GO:0001775 Process Cell activation IEA
GO:0001775 Process Cell activation ISS
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0001878 Process Response to yeast IEA
GO:0001878 Process Response to yeast ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600220 9066 ENSG00000197943
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16885
Protein 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)
Protein 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. {ECO:
PDB 2K2J , 2W2W , 2W2X , 8JQG , 8JQH , 8JQI , 8T7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00388 PI-PLC-X 314 457 Phosphatidylinositol-specific phospholipase C, X domain Family
PF00017 SH2 532 617 SH2 domain Domain
PF00017 SH2 646 720 SH2 domain Domain
PF00018 SH3_1 775 821 SH3 domain Domain
PF00387 PI-PLC-Y 930 1042 Phosphatidylinositol-specific phospholipase C, Y domain Family
PF00168 C2 1061 1168 C2 domain Domain
Sequence
MSTTVNVDSLAEYEKSQIKRALELGTVMTVFSFRKSTPERRTVQVIMETRQVAWSKTADK
IEGFLDIMEIKEIRPGKNSKDFERAKAVRQKEDCCFTILYGTQFVLSTLSLAADSKEDAV
NWLSGLKILHQEAMNASTPTIIESWLRKQIYSVDQTRRNSISLRELKTILPLINFKVSSA
KFLKDKFVEIGAHKDELSFEQFHLFYKKLMFEQQKSILDEFKKDSSVFILGNTDRPDASA
VYLHDFQRFLIHEQQEHWAQDLNKVRERMTKFIDDTMRETAEPFLFVDEFLTYLFSRENS
IWDEKYDAVDMQDMNNPLSHYWISSSHNTYLTGDQLRSESSPEAYIRCLRMGCRCIELDC
WDGPDGKPVIYHGWTRTTKIKFDDVVQAIKDHAFVTSSFPVILSIEEHCSVEQQRHMAKA
FKEVFGDLLLTKPTEASADQLPSPSQLREKIIIKHKK
LGPRGDVDVNMEDKKDEHKQQGE
LYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTELHFGEKWFHKKVEKR
TSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYY
LTDNLTFSSIYALIQHY
RETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDML
MRIPRDGAFLIRKREGSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYY

EKHSLYRKMRLRYPVTPELLERYNMERDINSLYDVSRMYVDPSEINPSMPQRTVKALYDY
KAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPS
NYVEDISTADFEELEKQII
EDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWF
QSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVE
TKADSIIRQKPVDLLKYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKY
MQMNHALFSLNGRTGYVLQPES
MRTEKYDPMPPESQRKILMTLTVKVLGARHLPKLGRSI
ACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIYDPNLAFLRFVVYEED
MFSDPNFLAHATYPIKAVKSGFRSVPLK
NGYSEDIELASLLVFCEMRPVLESEEELYSSC
RQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSN
SKFYS
Sequence length 1265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
EGFR tyrosine kinase inhibitor resistance
ErbB signaling pathway
Ras signaling pathway
Calcium signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
HIF-1 signaling pathway
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
Platelet activation
Neutrophil extracellular trap formation
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
Thyroid hormone signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Shigellosis
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Glioma
Non-small cell lung cancer
Hepatocellular carcinoma
  GPVI-mediated activation cascade
Toll Like Receptor 4 (TLR4) Cascade
Synthesis of IP3 and IP4 in the cytosol
Generation of second messenger molecules
Role of phospholipids in phagocytosis
DAP12 signaling
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
CLEC7A (Dectin-1) signaling
Dectin-2 family
FCGR3A-mediated IL10 synthesis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1661
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Likely pathogenic; Pathogenic rs2143682648, rs2143705605, rs397514562 RCV001650513
RCV002260534
RCV000032898
Familial cold autoinflammatory syndrome 3 Likely pathogenic; Pathogenic rs753618006, rs746749620, rs1381167403 RCV001824263
RCV002305070
RCV001227511
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity rs16956026, rs61755444 RCV005918097
RCV005901728
Adrenocortical carcinoma, hereditary Benign rs115583707 RCV005896923
Cervical cancer Likely benign; Benign rs200892679, rs74856898 RCV005926279
RCV005910742
Clonal Cytopenia of Undetermined Significance Likely benign rs377753289 RCV003152739
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32166339, 32894242
Achondroplasia and Swiss type agammaglobulinemia Inhibit 9778529
Adenocarcinoma Associate 32509861
Adjustment Disorders Associate 31853824
Agammaglobulinemia Associate 32671674
Alzheimer Disease Associate 28714976, 30258121, 30326945, 31131421, 32166339, 32894242, 33092647, 33239300, 34099642, 34615897, 35895133, 36530083, 36933698, 40528303
Alzheimer Disease Inhibit 33092647
Amyotrophic Lateral Sclerosis Associate 31131421
Anovulation Associate 40287692
Aortic Aneurysm Abdominal Associate 25993291