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Aliases for PLCG2 Gene

Aliases for PLCG2 Gene

  • Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific) 2 3
  • Phosphoinositide Phospholipase C-Gamma-2 3 4
  • Phospholipase C-IV 3 4
  • PLC-Gamma-2 3 4
  • EC 3.1.4.11 4 63
  • APLAID 3 6
  • PLC-IV 3 4
  • FCAS3 3 6
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Gamma-2 3
  • Phospholipase C-Gamma-2 4

External Ids for PLCG2 Gene

Previous GeneCards Identifiers for PLCG2 Gene

  • GC16P072654
  • GC16P082773
  • GC16P081551
  • GC16P081593
  • GC16P081569
  • GC16P080370
  • GC16P081812
  • GC16P067566

Summaries for PLCG2 Gene

Entrez Gene Summary for PLCG2 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]

GeneCards Summary for PLCG2 Gene

PLCG2 (Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific)) is a Protein Coding gene. Diseases associated with PLCG2 include familial cold autoinflammatory syndrome 3 and autoinflammation, antibody deficiency, and immune dysregulation syndrome. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include phospholipid binding and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCE1.

UniProtKB/Swiss-Prot for PLCG2 Gene

  • 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

Tocris Summary for PLCG2 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

Gene Wiki entry for PLCG2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCG2 Gene

Genomics for PLCG2 Gene

Regulatory Elements for PLCG2 Gene

Genomic Location for PLCG2 Gene

Start:
81,739,097 bp from pter
End:
81,962,693 bp from pter
Size:
223,597 bases
Orientation:
Plus strand

Genomic View for PLCG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLCG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCG2 Gene

Proteins for PLCG2 Gene

  • Protein details for PLCG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16885-PLCG2_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
    Protein Accession:
    P16885
    Secondary Accessions:
    • D3DUL3
    • Q3ZTS2
    • Q59H45
    • Q969T5

    Protein attributes for PLCG2 Gene

    Size:
    1265 amino acids
    Molecular mass:
    147870 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated).
    SequenceCaution:
    • Sequence=AAA60112.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305}; Sequence=AAQ76815.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305}; Sequence=BAD92151.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA32194.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLCG2 Gene

neXtProt entry for PLCG2 Gene

Proteomics data for PLCG2 Gene at MOPED

Post-translational modifications for PLCG2 Gene

  • Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLCG2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PLCG2 Gene

Gene Families for PLCG2 Gene

HGNC:
  • SH2D :SH2 domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for PLCG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16885

UniProtKB/Swiss-Prot:

PLCG2_HUMAN :
  • P16885
Domain:
  • Contains 1 C2 domain.
  • Contains 1 PH domain.
  • Contains 1 PI-PLC X-box domain.
  • Contains 1 PI-PLC Y-box domain.
  • Contains 2 SH2 domains.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with PLCG2: view

Function for PLCG2 Gene

Molecular function for PLCG2 Gene

GENATLAS Biochemistry: phospholipase C,gamma 2,phosphatidylinositol specific,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for PLCG2 Gene

Gene Ontology (GO) - Molecular Function for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity TAS --
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 15644415
GO:0008081 phosphoric diester hydrolase activity --
genes like me logo Genes that share ontologies with PLCG2: view
genes like me logo Genes that share phenotypes with PLCG2: view

Animal Models for PLCG2 Gene

MGI Knock Outs for PLCG2:

miRNA for PLCG2 Gene

miRTarBase miRNAs that target PLCG2

No data available for Transcription Factor Targeting and HOMER Transcription for PLCG2 Gene

Localization for PLCG2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLCG2 Gene COMPARTMENTS Subcellular localization image for PLCG2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PLCG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLCG2 Gene

Pathways for PLCG2 Gene

genes like me logo Genes that share pathways with PLCG2: view

Gene Ontology (GO) - Biological Process for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002316 follicular B cell differentiation IEA --
GO:0006629 lipid metabolic process --
GO:0006661 phosphatidylinositol biosynthetic process IDA 11606584
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with PLCG2: view

Compounds for PLCG2 Gene

(5) Tocris Compounds for PLCG2 Gene

Compound Action Cas Number
D609 Selective PC-PLC inhibitor [83373-60-8]
m-3M3FBS Phospholipase C activator [200933-14-8]
U 73343 Inactive analog of U 73122 (Cat. No. 1268) [142878-12-4]
VU 0155069 Potent and selective PLD1 inhibitor [1130067-06-9]
VU 0364739 hydrochloride Potent and selective PLD2 inhibitor [1244640-48-9]

(1226) HMDB Compounds for PLCG2 Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(33) Novoseek inferred chemical compound relationships for PLCG2 Gene

Compound -log(P) Hits PubMed IDs
convulxin 88.9 10
tyrosine 80.4 174
phosphatidylinositol-3,4,5-trisphosphate 71.5 3
inositol 1,4,5 trisphosphate 65.3 9
piceatannol 64.8 4
genes like me logo Genes that share compounds with PLCG2: view

Transcripts for PLCG2 Gene

Unigene Clusters for PLCG2 Gene

Phospholipase C, gamma 2 (phosphatidylinositol-specific):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLCG2 Gene

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:

Relevant External Links for PLCG2 Gene

GeneLoc Exon Structure for
PLCG2
ECgene alternative splicing isoforms for
PLCG2

Expression for PLCG2 Gene

mRNA expression in normal human tissues for PLCG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCG2 Gene

This gene is overexpressed in Whole Blood (10.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLCG2 Gene

SOURCE GeneReport for Unigene cluster for PLCG2 Gene Hs.413111

genes like me logo Genes that share expressions with PLCG2: view

No data available for mRNA Expression by UniProt/SwissProt for PLCG2 Gene

Orthologs for PLCG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCG2 35
  • 99.5 (n)
  • 99.68 (a)
PLCG2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLCG2 35
  • 88.98 (n)
  • 94.07 (a)
PLCG2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCG2 35
  • 89.99 (n)
  • 95.34 (a)
PLCG2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plcg2 35
  • 86.56 (n)
  • 94.15 (a)
Plcg2 16
Plcg2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLCG2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCG2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcg2 35
  • 86.59 (n)
  • 94.78 (a)
chicken
(Gallus gallus)
Aves PLCG2 35
  • 75.13 (n)
  • 83.17 (a)
PLCG2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCG2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcg2 35
  • 67.66 (n)
  • 70.49 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8024 35
zebrafish
(Danio rerio)
Actinopterygii plcg2 35
  • 63.99 (n)
  • 61.29 (a)
plcg2 36
  • 59 (a)
OneToMany
PLCG2 (2 of 2) 36
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sl 36
  • 38 (a)
OneToMany
sl 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea plc-3 36
  • 31 (a)
OneToMany
T01E8.3 37
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PLC1 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PLC5 35
  • 47.28 (n)
  • 35.62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6694 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for PLCG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLCG2 Gene

ENSEMBL:
Gene Tree for PLCG2 (if available)
TreeFam:
Gene Tree for PLCG2 (if available)

Paralogs for PLCG2 Gene

Paralogs for PLCG2 Gene

Selected SIMAP similar genes for PLCG2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PLCG2: view

Variants for PLCG2 Gene

Sequence variations from dbSNP and Humsavar for PLCG2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs8357 -- 81,958,259(+) ATGTT(C/G)CAAAC utr-variant-3-prime
rs1071644 -- 81,937,798(+) CTCAA(C/T)GGGCG synonymous-codon, reference
rs1130733 -- 81,938,886(+) GTATG(A/G)CAACA reference, missense
rs1130756 -- 81,958,108(+) CTTTT(C/T)TTCAA utr-variant-3-prime
rs1137750 -- 81,935,169(+) GGGTG(C/T)CAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCG2 Gene

Variant ID Type Subtype PubMed ID
nsv1900 CNV Insertion 18451855
esv26776 CNV Gain 19812545
nsv442406 CNV CNV 18776908
nsv523908 CNV Loss 19592680
esv2678204 CNV Deletion 23128226
esv2673687 CNV Deletion 23128226
esv2714792 CNV Deletion 23290073
esv1122914 CNV Deletion 17803354
esv2714793 CNV Deletion 23290073
dgv412e201 CNV Deletion 23290073
esv2665175 CNV Deletion 23128226
esv989873 CNV Deletion 20482838
esv23360 CNV Gain 19812545
esv273451 CNV Insertion 20981092
esv1008749 CNV Insertion 20482838
nsv907012 CNV Gain 21882294

Relevant External Links for PLCG2 Gene

HapMap Linkage Disequilibrium report
PLCG2
Human Gene Mutation Database (HGMD)
PLCG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCG2 Gene

Disorders for PLCG2 Gene

(2) OMIM Diseases for PLCG2 Gene (600220)

UniProtKB/Swiss-Prot

PLCG2_HUMAN
  • Familial cold autoinflammatory syndrome 3 (FCAS3) [MIM:614468]: An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. {ECO:0000269 PubMed:22236196}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878]: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. {ECO:0000269 PubMed:23000145}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PLCG2 Gene

(7) Novoseek inferred disease relationships for PLCG2 Gene

Disease -log(P) Hits PubMed IDs
x-linked agammaglobulinemia 51.9 1
lymphoma b-cell 31 2
lymphoma 11.9 1
inflammation 0 2
autoimmunity 0 1

Relevant External Links for PLCG2

Genetic Association Database (GAD)
PLCG2
Human Genome Epidemiology (HuGE) Navigator
PLCG2
genes like me logo Genes that share disorders with PLCG2: view

Publications for PLCG2 Gene

  1. Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma 2 in the human and the mouse. (PMID: 7835906) Hernandez D. … Fisher E.M. (Genomics 1994) 2 3 23
  2. Tyrosine residues in phospholipase Cgamma 2 essential for the enzyme function in B-cell signaling. (PMID: 11606584) Rodriguez R. … Katan M. (J. Biol. Chem. 2001) 3 4 23
  3. Activation of phospholipase Cgamma2 by tyrosine phosphorylation. (PMID: 12181444) Ozdener F. … Daniel J.L. (Mol. Pharmacol. 2002) 3 4 23
  4. Evidence for a role for tyrosine phosphorylation of phospholipase C gamma 2 in collagen-induced platelet cytosolic calcium mobilization. (PMID: 8093016) Daniel J.L. … Smith J.B. (Biochem. J. 1994) 3 23
  5. Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry. (PMID: 15845450) Yu P. … Mudde G.C. (Immunity 2005) 3 23

Products for PLCG2 Gene

Sources for PLCG2 Gene

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