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Aliases for PLCG2 Gene

Aliases for PLCG2 Gene

  • Phospholipase C Gamma 2 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Gamma-2 3 4
  • 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 56
  • PLC-IV 3 4
  • Phospholipase C-Gamma-2 4
  • APLAID 3
  • FCAS3 3

External Ids for PLCG2 Gene

Previous GeneCards Identifiers for PLCG2 Gene

  • GC16P072654
  • GC16P082773
  • GC16P081551
  • GC16P081593
  • GC16P081569
  • GC16P080370
  • GC16P081812
  • GC16P067566

Summaries for PLCG2 Gene

Entrez Gene Summary for PLCG2 Gene

  • The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]

CIViC summary for PLCG2 Gene

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, Plcg2-Associated and Familial Cold Autoinflammatory Syndrome 3. Among its related pathways are Activated TLR4 signalling and Human cytomegalovirus infection. Gene Ontology (GO) annotations related to this gene include obsolete 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

Additional gene information for PLCG2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCG2 Gene

Genomics for PLCG2 Gene

GeneHancer (GH) Regulatory Elements for PLCG2 Gene

Promoters and enhancers for PLCG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J081737 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.3 338 3.5 SP1 CC2D1A ELF3 CTCF CBFA2T2 ZNF148 CEBPG ZNF687 MYC KLF14 ENSG00000261218 LOC105369213 PLCG2 CMIP GAN GC16P081959
GH16J081778 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 609.1 +40.6 40640 2.3 NKRF POLR2A ZNF687 ZSCAN21 AHR NCOA6 MLLT1 IKZF1 GLIS2 ZBTB8A PLCG2 GC16P081959
GH16J081783 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 613.6 +46.1 46142 3.5 SP1 MLLT1 MZF1 IKZF1 PKNOX1 PRDM10 ZEB2 IKZF2 SCRT2 ZXDB PLCG2 GC16P081959
GH16J081829 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37.6 +93.4 93404 5.6 SP1 ZNF148 POLR2A ZNF687 RELA CREM MLLT1 EGR1 ZBED1 IKZF1 PLCG2 CMIP GC16P081959
GH16J081841 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +103.0 103002 1.9 ZNF148 ZNF687 MLLT1 ZNF404 ZNF560 IKZF1 PRDM12 TRIM22 IKZF2 ZNF140 PLCG2 ENSG00000261141 ENSG00000260213 C16orf46 ENSG00000260495 CMIP GC16P081959
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLCG2 gene promoter:
  • AP-1
  • ATF-2
  • ATF6
  • CRE-BP1
  • FOXL1
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • Sox9

Genomic Locations for PLCG2 Gene

Genomic Locations for PLCG2 Gene
chr16:81,739,097-81,962,693
(GRCh38/hg38)
Size:
223,597 bases
Orientation:
Plus strand
chr16:81,772,702-81,991,899
(GRCh37/hg19)
Size:
219,198 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

Antibody Products

  • Abcam antibodies for PLCG2

Domains & Families for PLCG2 Gene

Gene Families for PLCG2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PLCG2 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase C-gamma-2 (PLCG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PLCG2 Gene

Function for PLCG2 Gene

Molecular function for PLCG2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=3.1.4.11;.
GENATLAS Biochemistry:
phospholipase C,gamma 2,phosphatidylinositol specific,involved in signal transduction

Enzyme Numbers (IUBMB) for PLCG2 Gene

Phenotypes From GWAS Catalog for PLCG2 Gene

Gene Ontology (GO) - Molecular Function for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 20624904
GO:0004435 phosphatidylinositol phospholipase C activity IEA,TAS --
GO:0004629 phospholipase C activity TAS --
GO:0005515 protein binding IEA,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

CRISPR Products

miRNA for PLCG2 Gene

miRTarBase miRNAs that target PLCG2

Clone Products

  • Applied Biological Materials (abm): Clones for PLCG2 - Now 50% OFF >
  • * PLCG2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLCG2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for PLCG2 Gene

Localization for PLCG2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCG2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS,IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0070062 extracellular exosome HDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Water Approved Pharma 0
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

(404) 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
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
  • Diacylglycerol(28:0)
  • DAG(14:0/0:0/14:0)
  • 1-myristoyl-3-myristoyl-sn-glycerol
  • Diglyceride
  • Diacylglycerol(14:0/0:0/14:0)
Diglycerides Group B
  • 1,2-Ditetradecanoyl-sn-glycerol
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)

(5) Tocris Compounds for PLCG2 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
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

mRNA/cDNA for PLCG2 Gene

Unigene Clusters for PLCG2 Gene

Phospholipase C, gamma 2 (phosphatidylinositol-specific):
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PLCG2 - Now 50% OFF >
  • * PLCG2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLCG2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 CGAP 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, 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

Evidence on tissue expression from TISSUES for PLCG2 Gene

  • Blood(4.6)
  • Spleen(4.5)
  • Lymph node(2.5)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • respiratory
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • mouth
  • neck
  • nose
  • pharynx
  • thyroid
Thorax:
  • bronchus
  • lung
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PLCG2: view

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 35 34
  • 99.5 (n)
OneToOne
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 35 34
  • 88.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcg2 34
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Plcg2 17 35 34
  • 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 35 34
  • 63.99 (n)
OneToMany
PLCG2 (2 of 2) 35
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8024 34
fruit fly
(Drosophila melanogaster)
Insecta sl 35 36
  • 38 (a)
OneToMany
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
Cin.6694 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for PLCG2: view image

Paralogs for PLCG2 Gene

(6) SIMAP similar genes for PLCG2 Gene using alignment to 4 proteins:

  • PLCG2_HUMAN
  • H3BMT7_HUMAN
  • H3BPZ3_HUMAN
  • H3BQV5_HUMAN
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 Variation AA Info Type
rs1057519831 likely-pathogenic, Chronic lymphocytic leukemia, - 81,912,655(+) C/T coding_sequence_variant, missense_variant
rs1057519832 likely-pathogenic, Chronic lymphocytic leukemia, - 81,928,578(+) A/C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs114262189 benign, Familial cold autoinflammatory syndrome 3 81,937,830(+) G/A/C coding_sequence_variant, missense_variant
rs1143687 benign, not specified, - 81,889,208(+) C/T coding_sequence_variant, missense_variant
rs1143690 benign, Familial cold autoinflammatory syndrome 3 81,936,242(+) C/T coding_sequence_variant, synonymous_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
esv3639345 CNV loss 21293372
esv989873 CNV deletion 20482838
nsv1059532 CNV gain 25217958
nsv1061544 CNV loss 25217958
nsv1065088 CNV loss 25217958
nsv1067307 CNV loss 25217958
nsv1118359 CNV deletion 24896259
nsv1134571 CNV deletion 24896259
nsv1153558 CNV duplication 26484159
nsv1900 CNV insertion 18451855
nsv442406 CNV gain 18776908
nsv523908 CNV loss 19592680
nsv573365 CNV loss 21841781

Variation tolerance for PLCG2 Gene

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

Additional Variant Information for PLCG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCG2
Human Gene Mutation Database (HGMD)
PLCG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCG2 Gene

Disorders for PLCG2 Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

PLCG2_HUMAN
  • Familial cold autoinflammatory syndrome 3 (FCAS3) [MIM:614468]: An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. {ECO:0000269 PubMed:22236196}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878]: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. {ECO:0000269 PubMed:23000145}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLCG2

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

No data available for Genatlas for PLCG2 Gene

Publications for PLCG2 Gene

  1. Activation of phospholipase Cgamma2 by tyrosine phosphorylation. (PMID: 12181444) Ozdener F … Daniel JL (Molecular pharmacology 2002) 3 4 23 58
  2. Tyrosine residues in phospholipase Cgamma 2 essential for the enzyme function in B-cell signaling. (PMID: 11606584) Rodriguez R … Katan M (The Journal of biological chemistry 2001) 3 4 23 58
  3. Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma 2 in the human and the mouse. (PMID: 7835906) Hernandez D … Fisher EM (Genomics 1994) 2 3 23 58
  4. Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. (PMID: 24869598) Woyach JA … Byrd JC (The New England journal of medicine 2014) 3 4 58
  5. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. (PMID: 23000145) Zhou Q … Aksentijevich I (American journal of human genetics 2012) 3 4 58

Products for PLCG2 Gene