ENSG00000197943


Homo sapiens

Features
Gene ID: ENSG00000197943
  
Biological name :PLCG2
  
Synonyms : P16885 / phospholipase C gamma 2 / PLCG2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q23.3
Gene start: 81739097
Gene end: 81962693
  
Corresponding Affymetrix probe sets: 1557993_at (Human Genome U133 Plus 2.0 Array)   1563263_at (Human Genome U133 Plus 2.0 Array)   204613_at (Human Genome U133 Plus 2.0 Array)   230917_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455533
Ensembl peptide - ENSP00000482457
Ensembl peptide - ENSP00000455956
Ensembl peptide - ENSP00000352336
Ensembl peptide - ENSP00000454536
NCBI entrez gene - 5336     See in Manteia.
OMIM - 600220
RefSeq - NM_002661
RefSeq Peptide - NP_002652
swissprot - H3BQV5
swissprot - A0A0A0MRF9
swissprot - P16885
swissprot - H3BMT7
swissprot - H3BPZ3
Ensembl - ENSG00000197943
  
Related genetic diseases (OMIM): 614468 - Familial cold autoinflammatory syndrome 3, 614468
  614878 - Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 plcg2ENSDARG00000068763Danio rerio
 PLCG2ENSGALG00000033507Gallus gallus
 Plcg2ENSMUSG00000034330Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLCG1 / P19174 / phospholipase C gamma 1ENSG0000012418150
PLCE1 / Q9P212 / phospholipase C epsilon 1ENSG0000013819323


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000909  Phosphatidylinositol-specific phospholipase C, X domain
 IPR000980  SH2 domain
 IPR001192  Phosphoinositide phospholipase C family
 IPR001452  SH3 domain
 IPR001711  Phospholipase C, phosphatidylinositol-specific, Y domain
 IPR001849  Pleckstrin homology domain
 IPR011992  EF-hand domain pair
 IPR011993  PH-like domain superfamily
 IPR016279  Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase gamma
 IPR017946  PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
 IPR028381  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
 IPR035023  PLC-gamma, C-terminal SH2 domain
 IPR035024  PLC-gamma, N-terminal SH2 domain
 IPR035723  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain
 IPR035892  C2 domain superfamily
 IPR036028  SH3-like domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002092 positive regulation of receptor internalization IEA
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002316 follicular B cell differentiation IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006661 phosphatidylinositol biosynthetic process IDA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0009395 phospholipid catabolic process IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0016055 Wnt signaling pathway TAS
 biological_processGO:0019722 calcium-mediated signaling NAS
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0030183 B cell differentiation IEA
 biological_processGO:0032237 activation of store-operated calcium channel activity IEA
 biological_processGO:0032481 positive regulation of type I interferon production IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0032959 inositol trisphosphate biosynthetic process IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0043069 negative regulation of programmed cell death IEA
 biological_processGO:0043647 inositol phosphate metabolic process TAS
 biological_processGO:0050852 T cell receptor signaling pathway IEA
 biological_processGO:0050853 B cell receptor signaling pathway IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001784 phosphotyrosine residue binding IPI
 molecular_functionGO:0004435 phosphatidylinositol phospholipase C activity IEA
 molecular_functionGO:0004629 phospholipase C activity TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
GPVI-mediated activation cascade
Toll Like Receptor 4 (TLR4) Cascade
Synthesis of IP3 and IP4 in the cytosol
Role of phospholipids in phagocytosis
DAP12 signaling
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
CLEC7A (Dectin-1) signaling
Dectin-2 family
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000872 Hashimoto thyroiditis 
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 HP:0001025 Urticaria 
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 HP:0001045 Vitiligo 
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 HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators]
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 HP:0002719 Recurrent infections 
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 HP:0002720 Decreased IgA 
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 HP:0002829 Arthralgia 
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 HP:0002850 Decreased IgM 
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 HP:0002958 Immune dysregulation 
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 HP:0003193 Allergic rhinitis 
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 HP:0003593 Early onset 
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 HP:0006515 Interstitial pneumonitis 
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0011950 Bronchiolitis "Inflammation of the `bronchioles` (FMA:76497)." [DDD:tkuijpers]
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 HP:0100279 Ulcerative colitis "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn s disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken]
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 HP:0100658 Cellulitis 
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 HP:0200020 Corneal erosions "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction / complex
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / complex / reaction
 ENSG00000130427 EPO / P01588 / erythropoietin  / complex / reaction
 ENSG00000115085 ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70  / reaction
 ENSG00000166523 CLEC4E / Q9ULY5 / C-type lectin domain family 4 member E  / reaction / complex
 ENSG00000158869 FCER1G / P30273 / Fc fragment of IgE receptor Ig  / complex / reaction
 ENSG00000070190 DAPP1 / Q9UN19 / dual adaptor of phosphotyrosine and 3-phosphoinositides 1  / reaction / complex
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000143226 FCGR2A / P12318 / Fc fragment of IgG receptor IIa  / reaction / complex
 ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / complex / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / reaction
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / complex / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction / complex
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / complex / reaction
 ENSG00000113263 ITK / Q08881 / IL2 inducible T cell kinase  / reaction / complex
 ENSG00000149269 PAK1 / Q13153 / p21 (RAC1) activated kinase 1  / reaction / complex
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / complex / reaction
 ENSG00000135605 TEC / P42680 / tec protein tyrosine kinase  / complex / reaction
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction
 ENSG00000203747 FCGR3A / P08637 / Fc fragment of IgG receptor IIIa  / reaction / complex
 ENSG00000150337 FCGR1A / P12314 / Fc fragment of IgG receptor Ia  / reaction / complex
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex / reaction
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / complex / reaction
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / reaction / complex
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000205846 CLEC6A / Q6EIG7 / C-type lectin domain containing 6A  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / reaction / complex






 

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