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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
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
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Likely pathogenic; Pathogenic rs2143682648, rs2143705605, rs397514562 RCV001650513
RCV002260534
RCV000032898
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cold autoinflammatory syndrome 3 Likely pathogenic; Pathogenic rs753618006, rs746749620, rs1381167403 RCV001824263
RCV002305070
RCV001227511
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 28714976
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27758892
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 18784435
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25012946
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 32671674 Associate
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 31560769
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28714976, 30258121, 30326945, 31131421, 32166339, 32894242, 33092647, 33239300, 34099642, 34615897, 35895133, 36530083, 36933698, 40528303 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 33092647 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 28714976
★☆☆☆☆
Found in Text Mining only