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Gene Gene information from NCBI Gene database.
Entrez ID 5335
Gene name Phospholipase C gamma 1
Gene symbol PLCG1
Synonyms (NCBI Gene)
IDAANCKAP3PLC-IIPLC1PLC148PLCgamma1
Chromosome 20
Chromosome location 20q12
Summary The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction
miRNA miRNA information provided by mirtarbase database.
283 Show/Hide all (283)
miRTarBase ID miRNA Experiments Reference
MIRT025369 hsa-miR-34a-5p Proteomics 21566225
MIRT025369 hsa-miR-34a-5p Proteomics 21566225
MIRT049488 hsa-miR-92a-3p CLASH 23622248
MIRT037381 hsa-miR-744-3p CLASH 23622248
MIRT035779 hsa-miR-1914-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63 Show/Hide all (63)
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IDA 17229814
GO:0001726 Component Ruffle IEA
GO:0002862 Process Negative regulation of inflammatory response to antigenic stimulus TAS
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IBA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IDA 2550068
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172420 9065 ENSG00000124181
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19174
Protein name 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 (EC 3.1.4.11) (PLC-148) (Phosphoinositide phospholipase C-gamma-1) (Phospholipase C-II) (PLC-II) (Phospholipase C-gamma-1) (PLC-gamma-1)
Protein function Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediate
PDB 1HSQ , 2HSP , 4EY0 , 4FBN , 7NXE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 550 → 639 SH2 domain Domain
PF00017 SH2 668 → 741 SH2 domain Domain
PF00018 SH3_1 797 → 843 SH3 domain Domain
PF00168 C2 1088 → 1193 C2 domain Domain
PF00387 PI-PLC-Y 953 → 1068 Phosphatidylinositol-specific phospholipase C, Y domain Family
PF00388 PI-PLC-X 322 → 465 Phosphatidylinositol-specific phospholipase C, X domain Family
Sequence
MAGAASPCANGCGPGAPSDAEVLHLCRSLEVGTVMTLFYSKKSQRPERKTFQVKLETRQI
TWSRGADKIEGAIDIREIKEIRPGKTSRDFDRYQEDPAFRPDQSHCFVILYGMEFRLKTL
SLQATSEDEVNMWIKGLTWLMEDTLQAPTPLQIERWLRKQFYSVDRNREDRISAKDLKNM
LSQVNYRVPNMRFLRERLTDLEQRSGDITYGQFAQLYRSLMYSAQKTMDLPFLEASTLRA
GERPELCRVSLPEFQQFLLDYQGELWAVDRLQVQEFMLSFLRDPLREIEEPYFFLDEFVT
FLFSKENSVWNSQLDAVCPDTMNNPLSHYWISSSHNTYLTGDQFSSESSLEAYARCLRMG
CRCIELDCWDGPDGMPVIYHGHTLTTKIKFSDVLHTIKEHAFVASEYPVILSIEDHCSIA
QQRNMAQYFKKVLGDTLLTKPVEISADGLPSPNQLKRKILIKHKK
LAEGSAYEEVPTSMM
YSENDISNSIKNGILYLEDPVNHEWYPHYFVLTSSKIYYSEETSSDQGNEDEEEPKEVSS
STELHSNEKWFHGKLGAGRDGRHIAERLLTEYCIETGAPDGSFLVRESETFVGDYTLSFW
RNGKVQHCRIHSRQDAGTPKFFLTDNLVFDSLYDLITHY
QQVPLRCNEFEMRLSEPVPQT
NAHESKEWYHASLTRAQAEHMLMRVPRDGAFLVRKRNEPNSYAISFRAEGKIKHCRVQQE
GQTVMLGNSEFDSLVDLISYY
EKHPLYRKMKLRYPINEEALEKIGTAEPDYGALYEGRNP
GFYVEANPMPTFKCAVKALFDYKAQREDELTFIKSAIIQNVEKQEGGWWRGDYGGKKQLW
FPS
NYVEEMVNPVALEPEREHLDENSPLGDLLRGVLDVPACQIAIRPEGKNNRLFVFSIS
MASVAHWSLDVAADSQEELQDWVKKIREVAQTADARLTEGKIMERRKKIALELSELVVYC
RPVPFDEEKIGTERACYRDMSSFPETKAEKYVNKAKGKKFLQYNRLQLSRIYPKGQRLDS
SNYDPLPMWICGSQLVALNFQTPDKPMQMNQALFMTGRHCGYVLQPST
MRDEAFDPFDKS
SLRGLEPCAISIEVLGARHLPKNGRGIVCPFVEIEVAGAEYDSTKQKTEFVVDNGLNPVW
PAKPFHFQISNPEFAFLRFVVYEEDMFSDQNFLAQATFPVKGLKTGYRAVPLK
NNYSEDL
ELASLLIKIDIFPAKENGDLSPFSGTSLRERGSDASGQLFHGRAREGSFESRYQQPFEDF
RISQEHLADHFDSRERRAPRRTRVNGDNRL
Sequence length 1290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Inositol phosphate metabolism ISG15 antiviral mechanism
Metabolic pathways Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
EGFR tyrosine kinase inhibitor resistance Synthesis of IP3 and IP4 in the cytosol
ErbB signaling pathway Downstream signal transduction
Ras signaling pathway Generation of second messenger molecules
Rap1 signaling pathway Role of phospholipids in phagocytosis
Calcium signaling pathway PECAM1 interactions
Chemokine signaling pathway EGFR interacts with phospholipase C-gamma
NF-kappa B signaling pathway DAP12 signaling
HIF-1 signaling pathway FCERI mediated MAPK activation
Phosphatidylinositol signaling system FCERI mediated Ca+2 mobilization
Phospholipase D signaling pathway VEGFR2 mediated cell proliferation
Axon guidance Constitutive Signaling by EGFRvIII
VEGF signaling pathway Phospholipase C-mediated cascade: FGFR1
Neutrophil extracellular trap formation Phospholipase C-mediated cascade; FGFR2
Natural killer cell mediated cytotoxicity Phospholipase C-mediated cascade; FGFR3
Th1 and Th2 cell differentiation Phospholipase C-mediated cascade; FGFR4
Th17 cell differentiation Signaling by FGFR2 in disease
T cell receptor signaling pathway Signaling by FGFR4 in disease
Fc epsilon RI signaling pathway Signaling by FGFR1 in disease
Fc gamma R-mediated phagocytosis Signaling by FGFR3 point mutants in cancer
Leukocyte transendothelial migration RET signaling
Neurotrophin signaling pathway Activated NTRK2 signals through PLCG1
Inflammatory mediator regulation of TRP channels Activated NTRK3 signals through PLCG1
Thyroid hormone signaling pathway FCGR3A-mediated IL10 synthesis
AGE-RAGE signaling pathway in diabetic complications Signaling by ERBB2 KD Mutants
Growth hormone synthesis, secretion and action Signaling by ERBB2 ECD mutants
Parkinson disease Signaling by ERBB2 TMD/JMD mutants
Pathways of neurodegeneration - multiple diseases  
Vibrio cholerae infection  
Epithelial cell signaling in Helicobacter pylori infection  
Shigellosis  
Yersinia infection  
Kaposi sarcoma-associated herpesvirus 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  
Choline metabolism in cancer  
PD-L1 expression and PD-1 checkpoint pathway in cancer  
Lipid and atherosclerosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immune dysregulation, autoimmunity, and autoinflammation Pathogenic rs2515585150 RCV003330117
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 27790247
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog 27790247
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 27790247, 29212778
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS — GWAS catalog 27790247
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (124)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans SADDAN dysplasia BEFREE 29242050
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28978037
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25308733
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia CTD_human_DG 26437031
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 29794791
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 27369867, 30814910
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 25993291 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 37008939 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28063403
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 9083089 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only