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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]
PLCG2 (Phospholipase C Gamma 2) is a Protein Coding gene. Diseases associated with PLCG2 include Autoinflammation, Antibody Deficiency, And Immune Dysregulation and Familial Cold Autoinflammatory Syndrome 3. Among its related pathways are MAPK Signaling: Oxidative Stress Pathway and Downstream signaling events of B Cell Receptor (BCR). Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCG1.
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001784 | phosphotyrosine residue binding | IPI | 20624904 |
GO:0004435 | phosphatidylinositol phospholipase C activity | IEA,TAS | -- |
GO:0004629 | phospholipase C activity | TAS | -- |
GO:0005515 | protein binding | IEA,IPI | 15644415 |
GO:0008081 | phosphoric diester hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | IEA,TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 20458337 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | IL-2 Pathway |
ErbB Family Pathway
.59
Prolactin Signaling
.54
Thrombopoietin Pathway
.51
Growth Hormone Signaling
.49
ErbB2-ErbB3 Heterodimers
.49
|
IL-2 Pathway
.48
LPS Stimulated MAPK Signaling
.47
TREM1 Pathway
.43
PACAP Signaling
.37
PI3K Signaling in B-Lymphocyte
.35
|
2 | superpathway of inositol phosphate compounds | ||
3 | Immune response Fc epsilon RI pathway |
Immune response BCR pathway
.44
Immune response Fc epsilon RI pathway
.44
|
|
4 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways | ||
5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002092 | positive regulation of receptor internalization | IEA | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002316 | follicular B cell differentiation | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | IDA | 11606584 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Tyrosine | Approved, Investigational | Nutra | 1128 | |||
Water | Approved | Pharma | 0 | |||
myo-Inositol 1,4,5-trisphosphate | Experimental | Pharma | 0 | |||
Calcium | Nutra | 6876 | ||||
AACOCF3 | Pharma | Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphatidylinositol-3,4,5-trisphosphate |
|
|
||||
DG(16:0/24:0/0:0) |
|
|
||||
Diglycerides Group A |
|
|
||||
Diglycerides Group B |
|
257891-89-7 | ||||
Diglycerides Group C |
|
91125-76-7, 29541-66-0, 51621-26-2 |
|
Compound | Action | Cas Number |
---|---|---|
AACOCF3 | Phospholipase A2 inhibitor | 149301-79-1 |
Edelfosine | Selective PI-PLC inhibitor, also PAF receptor agonist | 77286-66-9 |
m-3M3FBS | Phospholipase C activator | 200933-14-8 |
o-3M3FBS | Inactive analog of m-3M3FBS (Cat. No. 1941) | 313981-55-4 |
U 73122 | Phospholipase C inhibitor | 112648-68-7 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30a | · | 30b | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | ^ | 34 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PLCG2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PLCG2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PLCG2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PLCG2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Plcg2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Plcg2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PLCG2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PLCG2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PLCG2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plcg2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | plcg2 30 31 |
|
OneToMany | |
PLCG2 (2 of 2) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8024 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | sl 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T01E8.3 32 |
|
|
|
plc-3 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PLC1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PLC5 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6694 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
833741 | Likely Benign: Familial cold autoinflammatory syndrome 3 | 81,937,806(+) |
C/T NM_002661.5(PLCG2):c.3101C>T (p.Thr1034Met) |
MISSENSE | |
837107 | Uncertain Significance: Familial cold autoinflammatory syndrome 3 | 81,889,258(+) |
C/A NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu) |
MISSENSE | |
837524 | Uncertain Significance: Familial cold autoinflammatory syndrome 3 | 81,910,569(+) |
G/A NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg) |
MISSENSE | |
837904 | Uncertain Significance: Familial cold autoinflammatory syndrome 3 | 81,938,914(+) |
G/A NM_002661.5(PLCG2):c.3312G>A (p.Val1104=) |
SYNONYMOUS | |
838585 | Uncertain Significance: Familial cold autoinflammatory syndrome 3 | 81,912,610(+) |
A/T NM_002661.5(PLCG2):c.1948A>T (p.Ser650Cys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv375e201 | CNV | deletion | 23290073 |
esv1008749 | CNV | insertion | 20482838 |
esv1122914 | CNV | deletion | 17803354 |
esv23360 | CNV | gain | 19812545 |
esv2665175 | CNV | deletion | 23128226 |
esv2673687 | CNV | deletion | 23128226 |
esv26776 | CNV | gain | 19812545 |
esv2678204 | CNV | deletion | 23128226 |
esv2714792 | CNV | deletion | 23290073 |
esv2714793 | CNV | deletion | 23290073 |
esv2761926 | CNV | loss | 21179565 |
esv3309178 | CNV | mobile element insertion |