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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 61
  • PLC-IV 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Gamma-2 3
  • 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 VEGF Signaling Pathway and Sweet Taste Signaling. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F081829 1.8 FANTOM5 Ensembl ENCODE 37.6 +93.4 93358 5.7 CTCF PKNOX1 ZNF146 WRNIP1 ZMYM3 MAX ZKSCAN1 RELA EGR1 POLR2A PLCG2 CMIP GC16M081818 GC16P081959
GH16F081835 0.5 Ensembl ENCODE 27.4 +98.3 98311 3.6 HDGF JUN ZMYM3 EBF1 RELA POLR2A SCRT2 EED ETV6 FOS PLCG2 GC16M081818 GC16P081959
GH16F081787 0.2 ENCODE 23.2 +48.0 47984 0.1 HDGF MTA2 HLF CBFB CREM SALL1 YY1 PLCG2 GC16M081818
GH16F081840 1.8 FANTOM5 Ensembl ENCODE 21.4 +103.0 103004 3.8 HDGF ZFP64 RAD21 YY1 ETV6 EGR2 ZNF654 CBFB CEBPB JUNB PLCG2 CMIP GC16M081818 GC16P081959
GH16F081795 1.1 Ensembl ENCODE 20.8 +58.9 58872 4.2 HDGF PKNOX1 TBL1XR1 WRNIP1 SIN3A BMI1 RAD21 ZBTB40 ZNF766 EGR1 PLCG2 GC16M081818
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001803290 -1097 401 HDGF ATF1 PKNOX1 WRNIP1 ZFP64 ARID4B ZNF48 ZNF2 ZNF143 MXD4

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

Selected DME Specific Peptides for PLCG2 Gene

P16885:
  • RVDSSNY
  • VYEEDMFSD
  • HCSVEQQ
  • GCRCIELDCWDGPDG
  • VLGARHLPK
  • SSHNTYL
  • DYTLSFWR
  • ELSDLVVY
  • VALNFQT
  • EIKEIRPGK

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

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

Gene Ontology (GO) - Molecular Function for PLCG2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

Gene Ontology (GO) - Cellular Components for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane IDA,TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PLCG2: view

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

Pathways & 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:0002092 positive regulation of receptor internalization IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002316 follicular B cell differentiation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process IDA 11606584
genes like me logo Genes that share ontologies with PLCG2: view

Drugs & Compounds for PLCG2 Gene

(17) Drugs for PLCG2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Nutra 0

(403) 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)

(2) Tocris Compounds for PLCG2 Gene

Compound Action Cas Number
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PLCG2 Gene



Protein tissue co-expression partners for PLCG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLCG2 Gene:

PLCG2

SOURCE GeneReport for Unigene cluster for PLCG2 Gene:

Hs.413111
genes like me logo Genes that share expression patterns with PLCG2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PLCG2 34 35
  • 99.5 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCG2 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCG2 35 34
  • 89.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLCG2 34 35
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Plcg2 34
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Plcg2 34 16 35
  • 86.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLCG2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCG2 35 34
  • 75.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCG2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcg2 34
  • 67.66 (n)
zebrafish
(Danio rerio)
Actinopterygii plcg2 34 35
  • 63.99 (n)
PLCG2 (2 of 2) 35
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8024 34
fruit fly
(Drosophila melanogaster)
Insecta sl 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea T01E8.3 36
  • 35 (a)
plc-3 35
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PLC1 35
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PLC5 34
  • 47.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6694 34
Species where no ortholog for PLCG2 was found in the sources mined by GeneCards:
  • 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
rs397514562 Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878], Pathogenic 81,919,549(+) GACCT(A/C)CGCCT reference, missense
rs10163388 -- 81,928,203(+) GAGCC(A/G)GGCTT intron-variant
rs10459875 -- 81,945,490(+) GTGAC(C/G)GTTCT intron-variant
rs10514519 -- 81,941,460(+) TGACA(A/G)AACCA intron-variant
rs10514520 -- 81,953,853(+) GTGAT(A/T)AAGGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv375e201 CNV deletion 23290073
esv1008749 CNV insertion 20482838
esv1122914 CNV deletion 17803354
esv23360 CNV gain 19812545
esv2665175 CNV deletion 23128226
esv2673687 CNV deletion 23128226
esv26776 CNV gain 19812545
esv2678204 CNV deletion 23128226
esv2714792 CNV deletion 23290073
esv2714793 CNV deletion 23290073
esv2761926 CNV loss 21179565
esv3309178 CNV mobile element insertion 20981092
esv3328481 CNV insertion 20981092
esv3582387 CNV loss 25503493
esv3582388 CNV loss 25503493
esv3639339 CNV loss 21293372
esv3639343 CNV loss 21293372
esv3639344 CNV loss 21293372</