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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLCG2 Gene

protein-coding   GIFtS: 72
GCID: GC16P081773

Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific)1 2     EC 3.1.4.113 8
Phosphoinositide Phospholipase C-Gamma-22 3     1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Gamma-22
Phospholipase C-IV2 3     APLAID2
PLC-IV2 3     FCAS32
PLC-gamma-22 3     Phospholipase C-Gamma-23

External Ids:    HGNC: 90661   Entrez Gene: 53362   Ensembl: ENSG000001979437   OMIM: 6002205   UniProtKB: P168853   

Export aliases for PLCG2 gene to outside databases

Previous GC identifers: GC16P072654 GC16P082773 GC16P081551 GC16P081593 GC16P081569 GC16P080370 GC16P081812 GC16P067566


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. (provided by RefSeq, Sep 2011)

GeneCards Summary for PLCG2 Gene: 
PLCG2 (phospholipase C, gamma 2 (phosphatidylinositol-specific)) is a protein-coding gene. Diseases associated with PLCG2 include plcg2-associated antibody deficiency and immune dysregulation, and birt-hogg-dube syndrome, and among its related super-pathways are Fc epsilon RI signaling pathway and D-myo-inositol (1,4,5)-trisphosphate biosynthesis. GO annotations related to this gene include phospholipid binding and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCG1.

UniProtKB/Swiss-Prot: PLCG2_HUMAN, P16885
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

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLCG2 gene promoter:
         AP-1   ATF-2   Lmo2   Olf-1   NF-kappaB   FOXL1   CRE-BP1   Sox9   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLCG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLCG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLCG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P081773:  view genomic region     (about GC identifiers)

Start:
81,772,702 bp from pter      End:
81,991,899 bp from pter
Size:
219,198 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PLCG2_HUMAN, P16885 (See protein sequence)
Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2  
Size: 1265 amino acids; 147870 Da
Cofactor: Calcium
Subunit: Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) (By similarity)
Sequence caution: Sequence=AAA60112.1; Type=Frameshift; Positions=1242; Sequence=AAQ76815.1; Type=Frameshift;
Positions=1242; Sequence=BAD92151.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA32194.1; Type=Frameshift; Positions=1242;
3 PDB 3D structures from and Proteopedia for PLCG2:
2K2J (3D)        2W2W (3D)        2W2X (3D)    
Secondary accessions: D3DUL3 Q3ZTS2 Q59H45 Q969T5

Explore the universe of human proteins at neXtProt for PLCG2: NX_P16885

Explore proteomics data for PLCG2 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16885

  • 4/10 DME Specific Peptides for PLCG2 (P16885) (see all 10)
     RVDSSNY  VALNFQT  HCSVEQQ  SSHNTYL 

    PLCG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLCG2 Protein Expression
    REFSEQ proteins: NP_002652.2  
    ENSEMBL proteins: 
     ENSP00000455956   ENSP00000352336   ENSP00000455533   ENSP00000454536  
    Reactome Protein details: P16885
    Human Recombinant Protein Products for PLCG2: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PLCG2
    OriGene Protein Over-expression Lysate for PLCG2
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    Novus Biologicals PLCG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    PLCG2 for ontologies           About GeneDecksing



    PLCG2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for PLCG2 (PLC-gamma 2)
    Cell Signaling Technology (CST) Antibodies for PLCG2 
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    OriGene Custom Antibody Services for PLCG2
    GenScript Custom Superior Antibodies Services for PLCG2
    Novus Biologicals PLCG2 Antibodies
    Abcam antibodies for PLCG2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for PLCG2
    LSBio Antibodies in human, mouse, rat for PLCG2 

    Assay Products for PLCG2: 
    EMD Millipore Kits and Assays for the Analysis of PLCG2
    OriGene Custom Assay Services for PLCG2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PLCG2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SH2D: SH2 domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCγ2 
    Phosphoinositide-specific phospholipase C

    5/13 InterPro protein domains (see all 13):
     IPR015359 PLipase_C_EF-hand-like
     IPR001192 Pinositol_PLipase_C
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR018029 C2_membr_targeting

    Graphical View of Domain Structure for InterPro Entry P16885

    ProtoNet protein and cluster: P16885

    5 Blocks protein domains:
    IPB000008 C2 domain
    IPB000909 Phosphatidylinositol-specific phospholipase C
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PLCG2_HUMAN, P16885
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PI-PLC X-box domain
    Similarity: Contains 1 PI-PLC Y-box domain
    Similarity: Contains 2 SH2 domains
    Similarity: Contains 1 SH3 domain


    PLCG2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLCG2_HUMAN, P16885
    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
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate
    + diacylglycerol

         Genatlas biochemistry entry for PLCG2:
    phospholipase C,gamma 2,phosphatidylinositol specific,involved in signal transduction

         Enzyme Number (IUBMB): EC 3.1.4.111 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity TAS--
    GO:0004629phospholipase C activity TAS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI15644415
    GO:0005543phospholipid binding IEA--
         
    PLCG2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PLCG2:
     Decreased focal adhesion (FA)   G0/1 arrest  Increased G1 DNA content  Increased cell size 

         12 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Plcg2):
     cardiovascular system  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  renal/urinary system 
     skeleton  tumorigenesis 

    PLCG2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Plcg2tm1Jni for PLCG2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLCG2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLCG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCG2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCG2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCG2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PLCG2:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidPLCG2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of PLCG2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PLCG2 (see all 8)
    OriGene ORF clones in mouse, rat for PLCG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLCG2 (NM_002661)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCG2
    Sirion Biotech Customized lentivirus for stable overexpression of PLCG2 
                         Customized lentivirus expression plasmids for stable overexpression of PLCG2 

    Cell Line
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    Search LifeMap BioReagents cell lines for PLCG2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCG2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLCG2 About   (see all 88)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Immune response Fc epsilon RI pathway
    Immune response Fc epsilon RI pathway0.45
    Immune response CD16 signaling in NK cells0.32
    Immune response BCR pathway0.45
    Immune response Role of DAP12 receptors in NK cells0.32
    Fc epsilon RI signaling pathway0.40
    Natural killer cell mediated cytotoxicity0.31
    VEGF signaling pathway0.39
    2Anandamide biosynthesis and metabolism
    D-myo-inositol-5-phosphate metabolism0.50
    Anandamide biosynthesis and metabolism0.34
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.50
    phospholipases0.34
    3VEGF Family Ligands and Receptor Interactions
    VEGF Family Ligands and Receptor Interactions0.66
    Development VEGF-family signaling0.36
    VEGF Pathway0.66
    4Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    5Glioma
    Glioma0.51
    Signaling Pathways in Glioblastoma0.36
    Non-small cell lung cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 EMD Millipore Pathways for PLCG2 (see all 15)
        Transcription Transcription factor Tubby signaling pathways
    Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells
    Development GDNF family signaling
    G-protein signaling G-Protein alpha-12 signaling pathway

    2 R&D Systems Pathways for PLCG2
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways
    VEGF - VEGF R2 Signaling Pathways

    5/77 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PLCG2 (see all 77)
        Fc-GammaR Pathway
    Intracellular Calcium Signaling
    UVA-Induced MAPK Signaling
    PACAP Signaling
    ErbB Family Pathway

    2 Cell Signaling Technology (CST) Pathways for PLCG2
        Ca, cAMP and Lipid Signaling
    Lymphocyte Signaling

    5/15 GeneGo (Thomson Reuters) Pathways for PLCG2 (see all 15)
        Anandamide biosynthesis and metabolism
    Development EPO-induced MAPK pathway
    Immune response CD16 signaling in NK cells
    Immune response BCR pathway
    G-protein signaling G-Protein alpha-12 signaling pathway

    5/11 BioSystems Pathways for PLCG2 (see all 11)
        Myometrial Relaxation and Contraction Pathways
    EGFR1 Signaling Pathway
    Signaling Pathways in Glioblastoma
    B Cell Receptor Signaling Pathway
    D-myo-inositol-5-phosphate metabolism

    5/19        Reactome Pathways for PLCG2 (see all 19)
        FCERI mediated MAPK activation
    Metabolism
    Inositol phosphate metabolism
    DAP12 interactions
    DAP12 signaling

    4 PharmGKB Pathways for PLCG2
        EGFR Inhibitor Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics
    VEGF Signaling Pathway

    5/23         Kegg Pathways  (Kegg details for PLCG2) (see all 23):
        Inositol phosphate metabolism
    Metabolic pathways
    ErbB signaling pathway
    Calcium signaling pathway
    NF-kappa B signaling pathway


    PLCG2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLCG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/213 Interacting proteins for PLCG2 (P168851, 2, 3 ENSP000003523364) via UniProtKB, MINT, STRING, and/or I2D (see all 213)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74684 MINT-74686 I2D: score=2 STRING: ENSP00000269571
    PIK3R1P279862, 3, ENSP000002743354MINT-8112159 I2D: score=3 STRING: ENSP00000274335
    MED28Q9H2042, 3, ENSP000002373804MINT-7041747 I2D: score=1 STRING: ENSP00000237380
    ZNF512BQ96KM62, 3MINT-60791 I2D: score=2 
    ENSG00000215641P143733I2D: score=2 
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002316follicular B cell differentiation IEA--
    GO:0006629lipid metabolic process ----
    GO:0006661phosphatidylinositol biosynthetic process IDA11606584
    GO:0007165signal transduction ----
    GO:0007596blood coagulation TAS--

    PLCG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLCG2 for compounds           About GeneDecksing

    EMD Millipore small molecules for PLCG2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PLCG2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    10/1226 HMDB Compounds for PLCG2 (see all 1226)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----

    10/33 Novoseek inferred chemical compound relationships for PLCG2 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    convulxin 88.9 13 10217417 (3), 9637734 (2), 9670039 (2), 16198316 (1) (see all 6)
    tyrosine 80.4 282 12181444 (7), 10348703 (6), 7862136 (5), 14656219 (4) (see all 99)
    phosphatidylinositol-3,4,5-trisphosphate 71.5 3 16172125 (1), 11071639 (1), 16115811 (1)
    inositol 1,4,5 trisphosphate 65.3 9 15474558 (1), 17229422 (1), 15184383 (1), 11389024 (1) (see all 9)
    piceatannol 64.8 4 8900143 (2), 11344169 (1), 17063483 (1)
    phosphoinositide 62.9 6 12023895 (1), 7517665 (1), 11339363 (1), 18313326 (1)
    phosphatidylinositol 62.8 27 7507510 (2), 12215216 (2), 8395016 (2), 12504103 (2) (see all 13)
    thromboxane a2 59.8 2 17063483 (2)
    wortmannin 54.7 9 9450969 (2), 10432314 (1), 10217417 (1), 9733717 (1) (see all 7)
    calcium 54.4 69 12970180 (5), 1499719 (4), 11434777 (3), 15474558 (2) (see all 32)

    Search CenterWatch for drugs/clinical trials and news about PLCG2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PLCG2 gene: 
    NM_002661.3  

    Unigene Cluster for PLCG2:

    Phospholipase C, gamma 2 (phosphatidylinositol-specific)
    Hs.413111  [show with all ESTs]
    Unigene Representative Sequence: NM_002661
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565054 ENST00000359376(uc002fgt.3) ENST00000569929 ENST00000567980(uc010chg.1)
    ENST00000565400 ENST00000569523 ENST00000565020 ENST00000563193 ENST00000562605
    ENST00000563375 ENST00000570198 ENST00000570196 ENST00000563269 ENST00000567373
    ENST00000563834 ENST00000567356
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCG2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PLCG2:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidPLCG2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PLCG2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCG2
    Clone
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    OriGene clones in human, mouse for PLCG2 (see all 8)
    OriGene ORF clones in mouse, rat for PLCG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    Additional mRNA sequence: 

    AB208914.1 AK304722.1 AK310042.1 AY364256.1 BC007565.1 BC011772.2 BC014561.2 BC018646.2 
    M37238.1 X14034.1 

    9 DOTS entries:

    DT.413573  DT.100757376  DT.100757372  DT.40132617  DT.97842900  DT.100738986  DT.120661917  DT.40248859 
    DT.86995022 

    24/184 AceView cDNA sequences (see all 184):

    BG391985 D54660 AW835208 T28753 BM478107 AA744504 BQ217070 AW576414 
    BX105088 AU157364 BM564033 AW835220 BM773235 AW575652 CA407891 AA360675 
    CA439295 BQ883965 BQ058829 BF901674 CA435854 AW835209 BM989096 BQ049718 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PLCG2 (see all 8)    About this scheme

    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:                                                                                                        -                                                   

    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:                                                                                                                  


    ECgene alternative splicing isoforms for PLCG2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLCG2 expression in normal human tissues (normalized intensities)      PLCG2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCAAACCT
    PLCG2 Expression
    About this image


    PLCG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 12 entries
             PureStem endothelial progenitor 30-SM2-1
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             PureStem endothelial Progenitor 30-SM2-3
             CD19+ B Cells   
     
     Lymph (Cardiovascular System)    fully expand to see all 2 entries
             Human Dermal Lymphatic Endothelial Cells (HDLEC)   
             LYMPH NODE   
     
     Dermis (Hematopoietic System)    fully expand to see all 2 entries
             Human Dermal Microvascular Endothelial Cells (HDMEC)   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See PLCG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLCG2

    SOURCE GeneReport for Unigene cluster: Hs.413111
        SABiosciences Expression via Pathway-Focused PCR Arrays including PLCG2: 
              Hypertension in human mouse rat
              VEGF Signaling in human mouse rat
              Antifungal Response in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PLCG2 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plcg21 , 5 phospholipase C, gamma 21, 5 86.56(n)1
    94.15(a)1
      8 (64.26 cM)5
    2347791  NM_172285.11  NP_758489.11 
     1174982915 
    chicken
    (Gallus gallus)
    Aves PLCG21 phospholipase C, gamma 2 (phosphatidylinositol-specific) 75.13(n)
    83.17(a)
      415805  XM_414166.3  XP_414166.3 
    lizard
    (Anolis carolinensis)
    Reptilia PLCG26
    Uncharacterized protein
    80(a)
    1 ↔ 1
    LGc(6047640-6104245)
    zebrafish
    (Danio rerio)
    Actinopterygii plcg21 phospholipase C, gamma 2 63.89(n)
    60.92(a)
      561747  NM_001044968.1  NP_001038433.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sl3
    1-phosphatidylinositol-4,5-bisphosphate
    phosphodiesterase
    37(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T01E8.33 1-phosphatidylinositol-4,5-bisphosphate
    phosphodiesterase
    35(a)   II(10222786-10228975)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLCG2 gene
    PLCG12  
    5 SIMAP similar genes for PLCG2 using alignment to 4 protein entries:     PLCG2_HUMAN (see all proteins):
    PLCG1    PLCG1 variant protein    PLCZ1    DKFZp434N101    ARHGEF7

    PLCG2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6465 SNPs in PLCG2 are shown (see all 6465)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692114
    Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID)4--see VAR_0692112 S Y mis40--------
    VAR_0315614
    ----see VAR_0315612 R W mis40--------
    rs756939311,2
    --67565124(+) AGTCAC/GAAACG 1 -- us2k10--------
    rs351310991,2
    C--67566298(+) AATTT-/TTTA  
            
    TTATT
    1 -- us2k10--------
    rs1120073431,2
    C--67568509(+) TCAAGACAA/-  
            
    ACAAA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs2008532581,2
    C--67569718(+) AGAAAA/GANNNN 1 -- int10--------
    rs286396081,2
    C,F--67584301(+) AACTGT/GGAGAC 1 -- int13Minor allele frequency- G:0.17NA WA 6
    rs2017913431,2
    --67584301(+) AACTG-/TGAGAC 1 -- int10--------
    rs283762781,2
    C,F--67584302(+) ACTGTG/AAGACA 1 -- int13Minor allele frequency- A:0.17NA WA 6
    rs129330671,2
    H--67589550(+) CAGTCT/CTTTTT 1 -- int1 trp34Minor allele frequency- C:0.00NS EA 372

    HapMap Linkage Disequilibrium report for PLCG2 (81772702 - 81991899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for PLCG2 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv989873CNV Deletion20482838
    esv1122914CNV Deletion17803354
    esv2714793CNV Deletion23290073
    esv2714792CNV Deletion23290073
    dgv412e201CNV Deletion23290073
    esv2673687CNV Deletion23128226
    esv2665175CNV Deletion23128226
    esv2678204CNV Deletion23128226
    esv273451CNV Insertion20981092
    esv1008749CNV Insertion20482838


    Human Gene Mutation Database (HGMD): PLCG2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600220    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLCG2_HUMAN, P16885
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/31 diseases for PLCG2 (see all 31):    About MalaCards
    plcg2-associated antibody deficiency and immune dysregulation    birt-hogg-dube syndrome    agammaglobulinemia    retinal vein occlusion
    mediastinitis    wegener's granulomatosis    urticaria    neurologic diseases
    thrombocytopenia    wilms tumor    cholera    b-cell lymphomas
    diffuse large b-cell lymphoma    thrombosis    huntington's disease    retinitis
    influenza    acute lymphoblastic leukemia    lymphoblastic leukemia    chronic lymphocytic leukemia

    1 disease from the University of Copenhagen DISEASES database for PLCG2:
    Birt-Hogg-Dube syndrome

    PLCG2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for PLCG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    x-linked agammaglobulinemia 51.9 1 17239630 (1)
    lymphoma b-cell 31 3 9575194 (1), 9865907 (1)
    lymphoma 11.9 3 18596745 (1)
    inflammation 0 3 15703080 (1), 15845450 (1)
    autoimmunity 0 1 15845450 (1)
    tumors 0 1 12881301 (1)
    immunodeficiency 0 1 17239630 (1)

    Genetic Association Database (GAD): PLCG2
    Human Genome Epidemiology (HuGE) Navigator: PLCG2 (7 documents)

    Export disorders for PLCG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PLCG2 gene, integrated from 9 sources (see all 266):
    (articles sorted by number of sources associating them with PLCG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activation of phospholipase Cgamma2 by tyrosine phosphorylation. (PubMed id 12181444)1, 2, 9 Ozdener F.... Daniel J.L. (2002)
    2. Tyrosine residues in phospholipase Cgamma 2 essential for the enzyme function in B-cell signaling. (PubMed id 11606584)1, 2, 9 Rodriguez R....Katan M. (2001)
    3. Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma 2 in the human and the mouse. (PubMed id 7835906)1, 3, 9 Hernandez D....Fisher E.M. (1994)
    4. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. (PubMed id 23000145)1, 2 Zhou Q.... Aksentijevich I. (2012)
    5. Cold urticaria, immunodeficiency, and autoimmunity re lated to PLCG2 deletions. (PubMed id 22236196)1, 2 Ombrello M.J....Milner J.D. (2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Polymorphisms in innate immunity genes and patients r esponse to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (2010)
    8. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (2009)
    9. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    10. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. (PubMed id 18095154)1, 4 Walker L.C....Spurdle A.B. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5336 HGNC: 9066 AceView: PLCG2 Ensembl:ENSG00000197943 euGenes: HUgn5336
    ECgene: PLCG2 Kegg: 5336 H-InvDB: PLCG2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLCG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PLCG2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLCG2 gene:
    Search GeneIP for patents involving PLCG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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