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PLCG2 phospholipase C gamma 2 [ Homo sapiens (human) ]

Gene ID: 5336, updated on 5-Apr-2020

Summary

Official Symbol
PLCG2provided by HGNC
Official Full Name
phospholipase C gamma 2provided by HGNC
Primary source
HGNC:HGNC:9066
See related
Ensembl:ENSG00000197943 MIM:600220
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FCAS3; APLAID; PLC-IV; PLC-gamma-2
Summary
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]
Expression
Broad expression in lymph node (RPKM 20.0), spleen (RPKM 12.3) and 21 other tissues See more
Orthologs

Genomic context

See PLCG2 in Genome Data Viewer
Location:
16q23.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (81779291..81962685)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81812899..81996290)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4528 Neighboring gene Sharpr-MPRA regulatory region 4151 Neighboring gene RN7SK pseudogene 176 Neighboring gene uncharacterized LOC112268169 Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 Neighboring gene uncharacterized LOC105371363 Neighboring gene hydroxysteroid 17-beta dehydrogenase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
MedGen: C3553961 OMIM: 614878 GeneReviews: Not available
Compare labs
Familial cold autoinflammatory syndrome 3
MedGen: C3280914 OMIM: 614468 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
Pr55(Gag) gag SPRY2 interactions with PI(4,5)P2 and PLCgamma allow it to influence HIV-1 Gag release through interference with PI(4,5)P2 dynamics PubMed
gag Phospholipase C-gamma is required for HIV-1 Gag release in the presence or absence of TSG101 binding PubMed
Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed
tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol phospholipase C activity TAS
Traceable Author Statement
more info
 
phospholipase C activity TAS
Traceable Author Statement
more info
 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
B cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Wnt signaling pathway TAS
Traceable Author Statement
more info
PubMed 
activation of store-operated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
follicular B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
inositol trisphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of programmed cell death IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of epithelial cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of receptor internalization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of type I interferon production IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
Names
phosphoinositide phospholipase C-gamma-2
phospholipase C, gamma 2 (phosphatidylinositol-specific)
phospholipase C-IV
NP_002652.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032019.2 RefSeqGene

    Range
    45162..226198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_376

mRNA and Protein(s)

  1. NM_002661.5NP_002652.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

    See identical proteins and their annotated locations for NP_002652.2

    Status: REVIEWED

    Source sequence(s)
    AB208914, AC092142, BC007565, BP351485, BX504887, DB456860
    Consensus CDS
    CCDS42204.1
    UniProtKB/Swiss-Prot
    P16885
    Related
    ENSP00000482457.1, ENST00000564138.6
    Conserved Domains (9) summary
    cd00275
    Location:10611187
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08592
    Location:311458
    PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma
    cd09932
    Location:641744
    SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma
    cd10341
    Location:527627
    SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma
    cd11969
    Location:773827
    SH3_PLCgamma2; Src homology 3 domain of Phospholipase C (PLC) gamma 2
    cd13234
    Location:840910
    PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain
    cd13362
    Location:22140
    PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain
    cl14615
    Location:9261031
    PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
    cl17171
    Location:475510
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    81779291..81962685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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