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 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] |
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. |
PDB |
2K2J
,
2W2W
,
2W2X
|
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 |