Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5336 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Phospholipase C gamma 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PLCG2 |
SynonymsGene synonyms aliases
|
APLAID, FCAS3, PLC-IV, PLC-gamma-2 |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16q23.3 |
SummarySummary 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 |
SNPsSNP 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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001784 |
Function |
Phosphotyrosine residue binding |
IPI |
20624904 |
GO:0002092 |
Process |
Positive regulation of receptor internalization |
IEA |
|
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
|
GO:0002316 |
Process |
Follicular B cell differentiation |
IEA |
|
GO:0004435 |
Function |
Phosphatidylinositol phospholipase C activity |
IDA |
11606584, 12181444 |
GO:0004435 |
Function |
Phosphatidylinositol phospholipase C activity |
TAS |
|
GO:0004629 |
Function |
Phospholipase C activity |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
15644415, 16273093, 17474147, 24642916, 24658140, 24728074, 25241761, 25814554, 31980649 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
11606584 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006661 |
Process |
Phosphatidylinositol biosynthetic process |
IDA |
11606584, 12181444 |
GO:0009395 |
Process |
Phospholipid catabolic process |
IEA |
|
GO:0010634 |
Process |
Positive regulation of epithelial cell migration |
IBA |
21873635 |
GO:0016055 |
Process |
Wnt signaling pathway |
TAS |
18784435 |
GO:0019722 |
Process |
Calcium-mediated signaling |
NAS |
11043765 |
GO:0030168 |
Process |
Platelet activation |
TAS |
|
GO:0030183 |
Process |
B cell differentiation |
ISS |
|
GO:0032237 |
Process |
Activation of store-operated calcium channel activity |
IEA |
|
GO:0032481 |
Process |
Positive regulation of type I interferon production |
IEA |
|
GO:0032496 |
Process |
Response to lipopolysaccharide |
IEA |
|
GO:0032959 |
Process |
Inositol trisphosphate biosynthetic process |
IEA |
|
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
|
GO:0038096 |
Process |
Fc-gamma receptor signaling pathway involved in phagocytosis |
TAS |
|
GO:0043069 |
Process |
Negative regulation of programmed cell death |
IEA |
|
GO:0043647 |
Process |
Inositol phosphate metabolic process |
TAS |
|
GO:0050852 |
Process |
T cell receptor signaling pathway |
ISS |
|
GO:0050853 |
Process |
B cell receptor signaling pathway |
ISS |
|
GO:0051209 |
Process |
Release of sequestered calcium ion into cytosol |
IDA |
11606584 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
20458337 |
GO:0140031 |
Function |
Phosphorylation-dependent protein binding |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence length |
1265 |
Interactions |
View interactions |