Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5336
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase C gamma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLCG2
Synonyms (NCBI Gene) Gene synonyms aliases
APLAID, FCAS3, PLC-IV, PLC-gamma-2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600220 9066 ENSG00000197943
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Autoinflammation, Antibody Deficiency, And Immune Dysregulation autoinflammation-plcg2-associated antibody deficiency-immune dysregulation rs397514562 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer (menopausal hormone therapy interaction) N/A N/A GWAS
Cold Autoinflammatory Syndrome familial cold autoinflammatory syndrome 3 N/A N/A ClinVar
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease 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