PLCG2 (phospholipase C gamma 2)

2004-04-01  

Identity

HGNC
PLCG2
LOCATION
16q23.3
LOCUSID
5336
ALIAS
APLAID,FCAS3,PLC-IV,PLC-gamma-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5336
MIM: 600220
HGNC: 9066
Ensembl: ENSG00000197943

Variants:

dbSNP: 5336
ClinVar: 5336
TCGA: ENSG00000197943
COSMIC: PLCG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197943ENST00000359376A0A0A0MRF9
ENSG00000197943ENST00000563193H3BPZ3
ENSG00000197943ENST00000563375H3BMT7
ENSG00000197943ENST00000564138P16885
ENSG00000197943ENST00000565054H3BQV5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
ErbB signaling pathwayKEGGko04012
Calcium signaling pathwayKEGGko04020
Phosphatidylinositol signaling systemKEGGko04070
Axon guidanceKEGGko04360
VEGF signaling pathwayKEGGko04370
Natural killer cell mediated cytotoxicityKEGGko04650
B cell receptor signaling pathwayKEGGko04662
Fc epsilon RI signaling pathwayKEGGko04664
Leukocyte transendothelial migrationKEGGko04670
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
GliomaKEGGko05214
Non-small cell lung cancerKEGGko05223
Inositol phosphate metabolismKEGGhsa00562
ErbB signaling pathwayKEGGhsa04012
Calcium signaling pathwayKEGGhsa04020
Phosphatidylinositol signaling systemKEGGhsa04070
Axon guidanceKEGGhsa04360
VEGF signaling pathwayKEGGhsa04370
Natural killer cell mediated cytotoxicityKEGGhsa04650
B cell receptor signaling pathwayKEGGhsa04662
Fc epsilon RI signaling pathwayKEGGhsa04664
Leukocyte transendothelial migrationKEGGhsa04670
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Pathways in cancerKEGGhsa05200
GliomaKEGGhsa05214
Non-small cell lung cancerKEGGhsa05223
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
Metabolic pathwaysKEGGhsa01100
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGhsa_M00130
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGM00130
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
HIF-1 signaling pathwayKEGGhsa04066
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
Ras signaling pathwayKEGGhsa04014
Thyroid hormone signaling pathwayKEGGhsa04919
Inflammatory mediator regulation of TRP channelsKEGGhsa04750
Inflammatory mediator regulation of TRP channelsKEGGko04750
Platelet activationKEGGhsa04611
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersREACTOMER-HSA-983695
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Role of phospholipids in phagocytosisREACTOMER-HSA-2029485
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
FCERI mediated Ca+2 mobilizationREACTOMER-HSA-2871809
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
Dectin-2 familyREACTOMER-HSA-5621480
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
GPVI-mediated activation cascadeREACTOMER-HSA-114604
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
EGFR tyrosine kinase inhibitor resistanceKEGGko01521
EGFR tyrosine kinase inhibitor resistanceKEGGhsa01521

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA174GNAQGenePathwayassociated20938371
PA176GNB3GenePathwayassociated20938371
PA179GP1BBGenePathwayassociated20938371
PA204ITGA2GenePathwayassociated20938371
PA205ITGB3GenePathwayassociated20938371
PA26097CASRGenePathwayassociated
PA26212CD36GenePathwayassociated20938371
PA270PLA2G2AGenePathwayassociated20938371
PA271PLA2G4AGenePathwayassociated20938371
PA27844ERBB2GenePathwayassociated
PA27846ERBB3GenePathwayassociated
PA27847ERBB4GenePathwayassociated
PA28764GNA11GenePathwayassociated20938371
PA28765GNA12GenePathwayassociated20938371
PA28766GNA13GenePathwayassociated20938371
PA28768GNA15GenePathwayassociated20938371
PA28823GP5GenePathwayassociated20938371
PA28824GP6GenePathwayassociated20938371
PA28825GP9GenePathwayassociated20938371
PA29938ITGA2BGenePathwayassociated20938371
PA30086KDRGenePathwayassociated20124951
PA33364PLA2G4BGenePathwayassociated20938371
PA33759PRKCAGenePathwayassociated20124951
PA33761PRKCBGenePathwayassociated20124951
PA33763PRKCDGenePathwayassociated20124951
PA33765PRKCEGenePathwayassociated20124951
PA33766PRKCGGenePathwayassociated20124951
PA33767PRKCHGenePathwayassociated20124951
PA33768PRKCIGenePathwayassociated20124951
PA33771PRKD1GenePathwayassociated
PA33773PRKCQGenePathwayassociated20124951
PA33775PRKCZGenePathwayassociated20124951
PA7360EGFRGenePathwayassociated

References

Pubmed IDYearTitleCitations
377144372024Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.1
377698782024PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.2
380615982024The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.0
377144372024Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.1
377698782024PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.2
380615982024The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function - Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.0
366964642023BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.14
370815392023Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.3
370942242023A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia.0
376161632023Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells.2
366964642023BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.14
370815392023Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.3
370942242023A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia.0
376161632023Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells.2
351420462022The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model.15

Citation

Dessen P

PLCG2 (phospholipase C gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/41745/plcg2