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

PLCG2 Gene

protein-coding   GIFtS: 70
GCID: GC16P081773

phospholipase C, gamma 2 (phosphatidylinositol-specific)

 Explore 35 diseases affiliated with
PLCG2 via our new
 Human Malady Compendium 
Biological research products
for PLCG2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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-21     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:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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; 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

Post-translational modifications:

  • 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 activity1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002652.2  
    ENSEMBL proteins: 
     ENSP00000455956   ENSP00000352336   ENSP00000455533   ENSP00000454536  
    Reactome Protein details: P16885
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--


    PLCG2 for ontologies           About GeneDecksing



    PLCG2 Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PLCG2 for domains           About GeneDecksing

    5/13 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    hsa-miR-3658
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    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCG2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity IDA12181444
    GO:0004629phospholipase C activity TAS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI15644415
    GO:0005543phospholipid binding IEA--


    PLCG2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Plcg2tm1Jni for PLCG2
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/83 super-pathways (see all 83About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ErbB4 Pathway
    8/10 pathways (see all 10)
    ErbB Family Pathway0.59
    LPS Stimulated MAPK Signaling0.36
    Prolactin Signaling0.54
    VEGF Signaling Pathway0.35
    ErbB2-ErbB3 Heterodimers0.47
    TREM1 Pathway0.32
    IL-2 Pathway0.46
    Growth Hormone Signaling0.32
    2VEGF Family Ligands and Receptor Interactions
    VEGF Family Ligands and Receptor Interactions1.00
    Development_VEGF-family signaling0.36
    VEGF Pathway0.66
    Development VEGF-family signaling0.36
    3Immune response CD16 signaling in NK cells
    Immune response CD16 signaling in NK cells1.00
    Immune response_Role of DAP12 receptors in NK cells0.32
    Immune response_CD16 signaling in NK cells0.99
    Immune response Role of DAP12 receptors in NK cells0.32
    4Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.36
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56

    Pathway sources
    See GeneCards unified pathways
    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

    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
        Signaling Pathways in Glioblastoma
    EGFR1 Signaling Pathway
    Myometrial Relaxation and Contraction Pathways
    D-myo-inositol-5-phosphate metabolism
    B Cell Receptor Signaling Pathway

    5/18        Reactome Pathways for PLCG2 (see all 18)
        Metabolism
    Inositol phosphate metabolism
    DAP12 interactions
    DAP12 signaling
    Role of phospholipids in phagocytosis

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

    5/18         Kegg Pathways  (Kegg details for PLCG2) (see all 18):
        Inositol phosphate metabolism
    Metabolic pathways
    ErbB signaling pathway
    Calcium signaling pathway
    Phosphatidylinositol signaling system


    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)

    5/209 Interacting proteins for PLCG2 (P168851, 2, 3 ENSP000003523364) via UniProtKB, MINT, STRING, and/or I2D (see all 209)
    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 
    EGFRP005332, 3, ENSP000002754934MINT-74685 MINT-74683 I2D: score=2 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002316follicular B cell differentiation IEA--
    GO:0006661phosphatidylinositol biosynthetic process IDA12181444
    GO:0007204elevation of cytosolic calcium ion concentration ----
    GO:0007596blood coagulation TAS--
    GO:0009395phospholipid catabolic process IEA--


    PLCG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    U 73122Phospholipase C inhibitor[112648-68-7]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PLCG2:
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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLCG2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLCG2

    Additional cDNA 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 BQ049718 BQ058829 BF901674 BM989096 CA407891 BQ883965 T28753 
    AW835206 AW835220 AA744504 AW835208 AA360675 AW576414 AU157364 AW575652 
    BX105088 AW015904 AW835209 CA439295 BM773235 BM564033 BQ217070 BM478107 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCAAACCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PLCG2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Definitive endoderm-like cells (A scalable, suspensi...)

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCG2

    (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 eukaryotes.

    Orthologs for PLCG2 gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    80(a)
    1 ↔ 1
    LGc(6057436-6100308)
    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)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATPLC16
    ATPLC16
    (see all 9)
    phosphoinositide phospholipase C 3
    (see all 9)
    25(a)
    25(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    5(23704231-23706800)
    4(18020674-18022985)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    phospholipase C, putative, expressed
    (see all 4)
    28(a)
    24(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(10024184-10026867)
    7(29544833-29547989)


    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
    PLCD42  PLCD12  PLCG12  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  
    PLCB12  PLCB42  PLCH22  PLCL12  PLCL22  
    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, UniProtKB, 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

    10/5489 NCBI SNPs in PLCG2 are shown (see all 5489    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71946721,2
    C,F,--67564809(+) TATATA/GTGACT 1 -- us2k1 tfbs31Minor allele frequency- G:0.03WA 118
    rs756939311,2
    --67565124(+) AGTCAC/GAAACG 1 -- us2k10--------
    rs1132110841,2
    C,--67566080(+) AATTGT/CCTGGG 1 -- us2k12Minor allele frequency- C:0.05CSA WA 120
    rs765948191,2
    F,--67566131(+) GATCAC/GGTTTT 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs58183511,2
    C,--67566297(+) TAAttTTTA/-  
            
    tttat
    1 -- us2k1 tfbs31Minor allele frequency- -:0.50CSA 2
    rs620464291,2
    --67566936(+) CAGGCA/GGGGCG 1 -- int13Minor allele frequency- G:0.24NA WA EA 240
    rs620464301,2
    C,--67566973(+) CGGCTC/TCCAGG 1 -- int14Minor allele frequency- T:0.34NA EA 244
    rs793419661,2
    C,--67567382(+) TTCCCG/CGAGAC 1 -- int12Minor allele frequency- C:0.20NA 122
    rs40733131,2
    C,A,--67567589(-) CAAGAG/CAGCCC 1 -- int14Minor allele frequency- C:0.11WA NA EA 360
    rs772142751,2
    --67567684(+) TGCCCA/GTCGGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PLCG2 (81772702 - 81991899 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PLCG2
         4 CNVs: 67062 37696 72632 77440
         3 Indels: 88248 25690 77439
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PLCG2 for disorders           About GeneDecksing

    OMIM gene information: 600220    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLCG2_HUMAN, P16885
  • Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 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

    20/35 diseases for PLCG2 (see all 35):    About MalaCards
    diffuse large b-cell lymphoma    b-cell lymphomas    retinal vein occlusion    wegener's granulomatosis
    agammaglobulinemia    systemic lupus erythematosus    lupus erythematosus    acute lymphoblastic leukemia
    chronic lymphocytic leukemia    lymphoblastic leukemia    lymphocytic leukemia    wilms tumor
    bipolar disorder    mediastinitis    urticaria    neurologic diseases
    thrombocytopenia    leukemia    cholera    thrombosis

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

    7 Novoseek 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)

    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 261):
    (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. Cold urticaria, immunodeficiency, and autoimmunity re lated to PLCG2 deletions. (PubMed id 22236196)1, 2 Ombrello M.J....Milner J.D. (2012)
    5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete cDNA encoding a putative phospholipase C from transformed human lymphocytes. (PubMed id 2849563)1, 2 Ohta S.... Kagawa Y. (1988)
    8. Roles of PLC-gamma2 and PKCalpha in TPA-induced apoptosis of gastric cancer cells. (PubMed id 14606067)1, 9 Zhang B....Chen M.C. (2003)
    9. Evidence that phospholipase C-gamma2 interacts with SLP-76, Syk, Lyn, LAT and the Fc receptor gamma-chain after stimulation of the collagen receptor glycoprotein VI in human platelets. (PubMed id 10469124)1, 9 Gross B.S....Watson S.P. (1999)
    10. Isozyme-specific stimulation of phospholipase C-gamma2 by Rac GTPases. (PubMed id 16172125)1, 9 Piechulek T....Gierschik P. (2005)

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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