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Aliases for PLCG2 Gene

Aliases for PLCG2 Gene

  • Phospholipase C Gamma 2 2 3 5
  • 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
  • PLC-IV 3 4
  • Phospholipase C-Gamma-2 4
  • APLAID 3
  • FCAS3 3

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) is a Protein Coding gene. Diseases associated with PLCG2 include autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. Among its related pathways are AGE-RAGE signaling pathway in diabetic complications and Axon guidance. GO annotations related to this gene include signal transducer activity and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCG1.

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. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

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

Enhancers for PLCG2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PLCG2 on UCSC Golden Path with GeneCards custom track

Promoters for PLCG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLCG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLCG2 Gene

Chromosome:
16
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

Genes around PLCG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLCG2 (PLCG2)

Domains & Families for PLCG2 Gene

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 :
  • Contains 1 C2 domain.
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

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

Human Phenotype Ontology for PLCG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCG2 Gene

MGI Knock Outs for PLCG2:

Animal Model Products

miRNA for PLCG2 Gene

miRTarBase miRNAs that target PLCG2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 5
extracellular 5
plasma membrane 5
nucleus 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLCG2 Gene

Pathways & Interactions for PLCG2 Gene

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

Pathways by source for PLCG2 Gene

SIGNOR curated interactions for PLCG2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002316 follicular B cell differentiation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process IDA 11606584
GO:0007165 signal transduction IEA --
GO:0009395 phospholipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLCG2: view

Drugs & Compounds for PLCG2 Gene

(15) Drugs for PLCG2 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
D609 Pharma PC-PLC inhibitor, Selective PC-PLC inhibitor 0

(408) Additional Compounds for PLCG2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)

(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
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
RHC 80267 Diacylglycerol lipase inhibitor 83654-05-1
U 73122 Phospholipase C inhibitor 112648-68-7
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 (x10.8).

Protein differential expression in normal tissues from HIPED for PLCG2 Gene

This gene is overexpressed in Lymph node (32.6) and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PLCG2: view

Protein tissue co-expression partners for PLCG2 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia PLCG2 35
  • 99.5 (n)
  • 99.68 (a)
PLCG2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcg2 35
  • 86.59 (n)
  • 94.78 (a)
oppossum
(Monodelphis domestica)
Mammalia PLCG2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCG2 36
  • 76 (a)
OneToOne
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)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8024 35
fruit fly
(Drosophila melanogaster)
Insecta sl 37
  • 37 (a)
sl 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01E8.3 37
  • 35 (a)
plc-3 36
  • 31 (a)
OneToMany
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

(6) 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
rs11548656 - 81,883,307(+) CCTGC(A/G)TGACT reference, missense
rs1143687 - 81,889,208(+) GTGAG(C/T)GGATG reference, missense
rs11548657 - 81,908,479(+) AGAGG(A/G)CGAGT reference, missense
rs17856213 - 81,931,562(+) AGGGC(G/T)ATCCT reference, missense
VAR_069211 Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID)

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

Variation tolerance for PLCG2 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.14% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for PLCG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoinflammation, antibody deficiency, and immune dysregulation syndrome
  • autoinflammation-plcg2-associated antibody deficiency-immune dysregulation
familial cold autoinflammatory syndrome 3
  • fcas3
familial cold autoinflammatory syndrome
  • familial cold urticaria
urticaria
cold urticaria
  • cold contact urticaria
- elite association - COSMIC cancer census association via MalaCards
Search PLCG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCG2_HUMAN
  • 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.
  • 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.

Relevant External Links for PLCG2

Genetic Association Database (GAD)
PLCG2
Human Genome Epidemiology (HuGE) Navigator
PLCG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCG2
genes like me logo Genes that share disorders with PLCG2: view

No data available for Genatlas for PLCG2 Gene

Publications for PLCG2 Gene

  1. Activation of phospholipase Cgamma2 by tyrosine phosphorylation. (PMID: 12181444) Ozdener F. … Daniel J.L. (Mol. Pharmacol. 2002) 3 4 23 67
  2. 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
  3. Rituximab inhibits B-cell receptor signaling. (PMID: 19965664) Kheirallah S. … Bezombes C. (Blood 2010) 3 23
  4. Activities of SYK and PLCgamma2 predict apoptotic response of CLL cells to SRC tyrosine kinase inhibitor dasatinib. (PMID: 20068106) Song Z. … Wang Y.L. (Clin. Cancer Res. 2010) 3 23
  5. Leptin signalling and leptin-mediated activation of human platelets: importance of JAK2 and the phospholipases Cgamma2 and A2. (PMID: 18000612) Dellas C. … Konstantinides S.V. (Thromb. Haemost. 2007) 3 23

Products for PLCG2 Gene