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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 58
  • 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 Calcium signaling pathway and p70S6K 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

Additional gene information for PLCG2 Gene

No data available for CIViC summary , 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
GH16H081829 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37.6 +93.4 93404 5 PKNOX1 SIN3A BATF RAD21 EGR1 ZNF143 ATF7 ETV6 RUNX3 CREM PLCG2 CMIP GC16M081818 GC16P081959
GH16H081841 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +103.0 103003 1 HDGF ZFP64 BATF ATF7 ETV6 RUNX3 IKZF2 EGR2 CBFB ZC3H11A PLCG2 ENSG00000261141 ENSG00000260213 C16orf46 ENSG00000260495 CMIP GC16M081818 GC16P081959
GH16H081835 1.3 Ensembl ENCODE dbSUPER 27.5 +97.5 97525 2 HDGF EBF1 BATF RELA POLR2A EED SCRT2 ETV6 RUNX3 IKZF2 PLCG2 GC16M081818 GC16P081959
GH16H081813 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +80.0 80004 12 HDGF PKNOX1 SIN3A GATA2 ZNF143 ATF7 RUNX3 JUNB NBN SALL1 PLCG2 GAN CMIP GC16M081818 GC16P081959
GH16H081795 1.4 Ensembl ENCODE dbSUPER 20.8 +58.9 58872 4 HDGF PKNOX1 TBL1XR1 RB1 BMI1 ZBTB40 BATF ZNF143 ZNF207 ATF7 PLCG2 GC16M081818
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCG2 on UCSC Golden Path with GeneCards custom track

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLCG2 (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:

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

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

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 binding IPI 20624904
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
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCG2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 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:0005622 intracellular IEA --
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane 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-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCG2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, 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

Evidence on tissue expression from TISSUES for PLCG2 Gene

  • Blood(4.6)
  • Spleen(4.5)
  • Lymph node(2.5)
  • Bone marrow(2.2)

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
Organs:
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

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 33
  • 99.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLCG2 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCG2 34 33
  • 89.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLCG2 34 33
  • 88.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcg2 33
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Plcg2 16 34 33
  • 86.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLCG2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCG2 34 33
  • 75.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCG2 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcg2 33
  • 67.66 (n)
zebrafish
(Danio rerio)
Actinopterygii plcg2 34 33
  • 63.99 (n)
OneToMany
PLCG2 (2 of 2) 34
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8024 33
fruit fly
(Drosophila melanogaster)
Insecta sl 35 34
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea T01E8.3 35
  • 35 (a)
plc-3 34
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PLC1 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PLC5 33
  • 47.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6694 33
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 Pathogenic, Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] 81,919,549(+) GACCT(A/C)CGCCT reference, missense
rs1057519243 Uncertain significance 81,939,943(+) GACAT(A/T)TGAAA reference, missense
rs753762025 Uncertain significance 81,927,161(+) ACTTC(A/G)AGGAG reference, missense
rs1000001222 -- 81,926,095(+) GGGGG(G/T)AAGTT intron-variant
rs1000002678 -- 81,898,461(+) TGAGC(C/T)GGGTC 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
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)

Relevant External Links for PLCG2 Gene

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

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

Disorders for PLCG2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autoinflammation, antibody deficiency, and immune dysregulation syndrome
  • autoinflammation-plcg2-associated antibody deficiency-immune dysregulation
familial cold autoinflammatory syndrome 3
  • fcas3
familial cold autoinflammatory syndrome
  • familial cold urticaria
urticaria
agammaglobulinemia, x-linked 1
  • bruton-type agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search PLCG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCG2_HUMAN
  • 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.
  • 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.

Relevant External Links for PLCG2

Genetic Association Database (GAD)
PLCG2
Human Genome Epidemiology (HuGE) Navigator
PLCG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCG2
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 22 60
  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 22 60
  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 22 60
  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 60
  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 60

Products for PLCG2 Gene

Sources for PLCG2 Gene

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