The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009] See more...

Aliases for PLA2G7 Gene

Aliases for PLA2G7 Gene

  • Phospholipase A2 Group VII 2 3 5
  • Phospholipase A2, Group VII (Platelet-Activating Factor Acetylhydrolase, Plasma) 2 3
  • 1-Alkyl-2-Acetylglycerophosphocholine Esterase 3 4
  • 2-Acetyl-1-Alkylglycerophosphocholine Esterase 3 4
  • Platelet-Activating Factor Acetylhydrolase 3 4
  • LDL-Associated Phospholipase A2 3 4
  • Group-VIIA Phospholipase A2 3 4
  • PAF 2-Acylhydrolase 3 4
  • PAF Acetylhydrolase 3 4
  • EC 3.1.1.47 4 52
  • LDL-PLA(2) 3 4
  • GVIIA-PLA2 3 4
  • PAFAH 3 4
  • Lipoprotein-Associated Phospholipase A2 3
  • LDL-PLA2 3
  • EC 3.1.1 52
  • LP-PLA2 3
  • PAFAD 3

External Ids for PLA2G7 Gene

Previous GeneCards Identifiers for PLA2G7 Gene

  • GC06M046674
  • GC06M046718
  • GC06M046719
  • GC06M046780
  • GC06M046395

Summaries for PLA2G7 Gene

Entrez Gene Summary for PLA2G7 Gene

  • The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

GeneCards Summary for PLA2G7 Gene

PLA2G7 (Phospholipase A2 Group VII) is a Protein Coding gene. Diseases associated with PLA2G7 include Platelet-Activating Factor Acetylhydrolase Deficiency and Ige Responsiveness, Atopic. Among its related pathways are CCR5 Pathway in Macrophages and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include phospholipid binding and calcium-independent phospholipase A2 activity. An important paralog of this gene is PAFAH2.

UniProtKB/Swiss-Prot Summary for PLA2G7 Gene

  • Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids.

Tocris Summary for PLA2G7 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 PLA2G7 Gene

Additional gene information for PLA2G7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLA2G7 Gene

Genomics for PLA2G7 Gene

GeneHancer (GH) Regulatory Elements for PLA2G7 Gene

Promoters and enhancers for PLA2G7 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
GH06J046729 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 504.3 +2.1 2100 5.6 CTCF RBAK ZNF423 ZNF623 ZBTB26 ZNF662 EZH2 ZNF341 ZNF148 POLR2A PLA2G7 SLC25A27 TDRD6 CD2AP CYP39A1 ENSG00000242973 LOC101926934
GH06J046651 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +83.4 83401 3.8 ZNF217 SP1 SIX5 ZFX ZIC2 POLR2A ZBTB10 ZBTB26 REST RFX1 SLC25A27 CYP39A1 TDRD6 PLA2G7 piR-35729-052
GH06J046770 Enhancer 1 FANTOM5 ENCODE 14.1 -36.7 -36738 3.7 TCF7 HES1 TEAD1 NCOR1 CEBPB CTCF CEBPG FOS PBX2 SPI1 lnc-ANKRD66-1 PLA2G7 MEP1A TDRD6 ENSG00000236164
GH06J047074 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10 -340.9 -340917 3.5 EP300 FOXK2 POLR2G USF1 NCOR1 KDM6A TCF7 ZBTB25 TGIF2 SKI TNFRSF21 PLA2G7 ADGRF5 RF00017-5587 piR-39858-558
GH06J047034 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 -299.4 -299399 2.2 ZNF217 ZSCAN5C ZNF639 ZNF10 ZIC2 TRIM28 EP300 ATF2 CTBP1 ZNF341 SLC25A27 PLA2G7 ADGRF1 piR-38580-281 lnc-ADGRF5-2 lnc-ADGRF5-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLA2G7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLA2G7

Top Transcription factor binding sites by QIAGEN in the PLA2G7 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • LyF-1
  • NF-AT
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for PLA2G7 Gene

Genomic Locations for PLA2G7 Gene
chr6:46,704,201-46,735,701
(GRCh38/hg38)
Size:
31,501 bases
Orientation:
Minus strand
chr6:46,671,938-46,703,430
(GRCh37/hg19)
Size:
31,493 bases
Orientation:
Minus strand

Genomic View for PLA2G7 Gene

Genes around PLA2G7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLA2G7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLA2G7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLA2G7 Gene

Proteins for PLA2G7 Gene

  • Protein details for PLA2G7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13093-PAFA_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase
    Protein Accession:
    Q13093
    Secondary Accessions:
    • A5HTT5
    • Q15692
    • Q5VTT1
    • Q8IVA2

    Protein attributes for PLA2G7 Gene

    Size:
    441 amino acids
    Molecular mass:
    50077 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PLA2G7 Gene

neXtProt entry for PLA2G7 Gene

Selected DME Specific Peptides for PLA2G7 Gene

Q13093:
  • LAFLQKHL
  • VAAVEHRD
  • GHSFGGAT
  • KDFDQWD
  • LSEDQRFRCG
  • ASHGFIV
  • VGCTDLM

Post-translational modifications for PLA2G7 Gene

  • Glycosylation at Asn423 and Asn433
  • Modification sites at PhosphoSitePlus

Other Protein References for PLA2G7 Gene

Domains & Families for PLA2G7 Gene

Gene Families for PLA2G7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for PLA2G7 Gene

Blocks:
  • Lipase, active site
  • Platelet-activating factor acetylhydrolase, plasma/intracellular isoform II
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLA2G7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52187, highly similar to Platelet-activating factor acetylhydrolaseprecursor (EC 3.1.1.47) (B4DLM5_HUMAN)
  • PAF 2-acylhydrolase (PAFA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13093

UniProtKB/Swiss-Prot:

PAFA_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with PLA2G7: view

Function for PLA2G7 Gene

Molecular function for PLA2G7 Gene

UniProtKB/Swiss-Prot Function:
Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:17777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:30909, ChEBI:CHEBI:36707; EC=3.1.1.47;.
GENATLAS Biochemistry:
phospholipase A2,groupVII,platelet activating factor acetylhydrolase plasma,inhibiting the proinflammatory properties of PAH.The mutation V279 is a risk factor for stroke

Enzyme Numbers (IUBMB) for PLA2G7 Gene

Phenotypes From GWAS Catalog for PLA2G7 Gene

Gene Ontology (GO) - Molecular Function for PLA2G7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IDA 8624782
GO:0005543 phospholipid binding IDA 8624782
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds TAS --
GO:0047499 calcium-independent phospholipase A2 activity IDA 8624782
genes like me logo Genes that share ontologies with PLA2G7: view
genes like me logo Genes that share phenotypes with PLA2G7: view

Human Phenotype Ontology for PLA2G7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLA2G7 Gene

MGI Knock Outs for PLA2G7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLA2G7

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PLA2G7 Gene

Localization for PLA2G7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLA2G7 Gene

Secreted, extracellular space.

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 PLA2G7 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
plasma membrane 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PLA2G7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0034362 low-density lipoprotein particle IDA 8624782
genes like me logo Genes that share ontologies with PLA2G7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLA2G7 Gene

Pathways & Interactions for PLA2G7 Gene

PathCards logo

SuperPathways for PLA2G7 Gene

genes like me logo Genes that share pathways with PLA2G7: view

Pathways by source for PLA2G7 Gene

1 GeneGo (Thomson Reuters) pathway for PLA2G7 Gene
  • Immune response CD16 signaling in NK cells
7 Qiagen pathways for PLA2G7 Gene
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway
  • Chemokine Signaling
  • DHA Signaling
  • Fc-EpsilonRI Pathway

Gene Ontology (GO) - Biological Process for PLA2G7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0034374 low-density lipoprotein particle remodeling IDA 8624782
GO:0034440 lipid oxidation IDA 8624782
GO:0034441 plasma lipoprotein particle oxidation IDA 8624782
genes like me logo Genes that share ontologies with PLA2G7: view

No data available for SIGNOR curated interactions for PLA2G7 Gene

Drugs & Compounds for PLA2G7 Gene

(38) Drugs for PLA2G7 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Full agonist, Agonist 141
Water Approved Pharma 0
(1R)-1,2,2-trimethylpropyl (R)-methylphosphinate Experimental Pharma Target 0
Rilapladib Investigational Pharma Target, inhibitor 0
Darapladib Investigational Pharma inhibitor Lp-PLA2 inhibitor, selective and orally active 19

(67) Additional Compounds for PLA2G7 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPC(0:0/18:0)
  • (2R)-3-Hydroxy-2-(stearoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate
  • 2-Octadecanoyl-sn-glycero-3-phosphocholine
  • 2-Stearoyllysophosphatidylcholine
  • LPC (18:0)
  • PC(0:0/18:0)
4421-58-3
LysoPC(10:0)
  • 1-Capryl-2-lysophosphatidylcholine
  • 1-Capryl-L-alpha-phosphorylcholine
  • 1-Decanoyl-sn-glycero-3-phosphocholine
  • 1-Decanoyl-sn-glycerol-3-phosphorylcholine
  • 1-Decanoyllysolecithin
22248-63-1
LysoPC(14:0/0:0)
  • 1-C14:0-Lysophosphatidylcholine betaine
  • 1-Myristoyl-glycero-3-phosphocholine
  • 1-Myristoyl-sn-glycero-3-phosphocholine betaine
  • 1-Tetradecanoyl-sn-glycero-3-phosphocholine
  • 1-Tetradecanoyl-sn-glycero-3-phosphocholine betaine
20559-16-4
LysoPC(14:1(9Z))
  • 1-(9Z-Tetradecenoyl)-sn-glycero-3-phosphocholine
  • 1-Myristoleoyl-glycero-3-phosphocholine
  • LPC 14:1(9Z)/0:0
  • LPC(14:1(9Z)/0:0)
  • LysoPC 14:1(9Z)/0:0
LysoPC(15:0)
  • 1-Pentadecanoyl-glycero-3-phosphocholine
  • LPC(15:0)
  • LPC(15:0/0:0)
  • LyPC(15:0)
  • LyPC(15:0/0:0)

(5) Tocris Compounds for PLA2G7 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

(4) ApexBio Compounds for PLA2G7 Gene

Compound Action Cas Number
Anti-Inflammatory Peptide 1 PLA2 inhibitor 118850-71-8
Darapladib Lp-PLA2 inhibitor, selective and orally active 356057-34-6
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
Halobetasol Propionate 66852-54-8
genes like me logo Genes that share compounds with PLA2G7: view

Transcripts for PLA2G7 Gene

mRNA/cDNA for PLA2G7 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLA2G7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLA2G7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2: - -
SP3: -
SP4:

Relevant External Links for PLA2G7 Gene

GeneLoc Exon Structure for
PLA2G7

Expression for PLA2G7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLA2G7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLA2G7 Gene

This gene is overexpressed in Spleen (x9.2).

Protein differential expression in normal tissues from HIPED for PLA2G7 Gene

This gene is overexpressed in Serum (66.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLA2G7 Gene



Protein tissue co-expression partners for PLA2G7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLA2G7

SOURCE GeneReport for Unigene cluster for PLA2G7 Gene:

Hs.584823

mRNA Expression by UniProt/SwissProt for PLA2G7 Gene:

Q13093-PAFA_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for PLA2G7 Gene

  • Blood(4.5)
  • Spleen(4.4)
  • Lymph node(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLA2G7 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • coagulation system
genes like me logo Genes that share expression patterns with PLA2G7: view

Orthologs for PLA2G7 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLA2G7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLA2G7 31 30
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLA2G7 31 30
  • 86.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLA2G7 31 30
  • 86.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pla2g7 17 31 30
  • 75.38 (n)
rat
(Rattus norvegicus)
Mammalia Pla2g7 30
  • 74.64 (n)
oppossum
(Monodelphis domestica)
Mammalia PLA2G7 31
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLA2G7 31
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLA2G7 31 30
  • 63.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLA2G7 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pla2g7 30
  • 61.53 (n)
zebrafish
(Danio rerio)
Actinopterygii pla2g7 31 30
  • 62.81 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea paf-2 31 32
  • 31 (a)
ManyToMany
paf-1 31 32
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for PLA2G7 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLA2G7 Gene

ENSEMBL:
Gene Tree for PLA2G7 (if available)
TreeFam:
Gene Tree for PLA2G7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLA2G7: view image

Paralogs for PLA2G7 Gene

Paralogs for PLA2G7 Gene

(1) SIMAP similar genes for PLA2G7 Gene using alignment to 3 proteins:

  • PAFA_HUMAN
  • B4DLM5_HUMAN
  • F5GYY6_HUMAN
genes like me logo Genes that share paralogs with PLA2G7: view

Variants for PLA2G7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLA2G7 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709898 Likely Benign: not provided 46,704,602(-) G/A SYNONYMOUS_VARIANT
720948 Benign: not provided 46,711,586(-) C/G MISSENSE_VARIANT
723503 Likely Benign: not provided 46,710,626(-) A/G SYNONYMOUS_VARIANT
rs1051931 Risk Factor: Asthma and atopy, susceptibility to; not provided. - 46,705,206(-) A/Gp.Val379Ala MISSENSE_VARIANT
rs1554182722 Uncertain Significance: Platelet-activating factor acetylhydrolase deficiency 46,710,640(-) C/CTT FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for PLA2G7 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLA2G7 Gene

Variant ID Type Subtype PubMed ID
esv2732030 CNV deletion 23290073
esv2759425 CNV gain+loss 17122850
nsv428147 CNV gain 18775914
nsv523148 CNV loss 19592680
nsv7894 CNV loss 18304495

Variation tolerance for PLA2G7 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLA2G7 Gene

Human Gene Mutation Database (HGMD)
PLA2G7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLA2G7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLA2G7 Gene

Disorders for PLA2G7 Gene

MalaCards: The human disease database

(23) MalaCards diseases for PLA2G7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PAFA_HUMAN
  • Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278]: An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms. {ECO:0000269 PubMed:8675689, ECO:0000269 PubMed:9245731, ECO:0000269 PubMed:9412624, ECO:0000269 PubMed:9472966, ECO:0000269 PubMed:9759612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269 PubMed:10733466}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Atopic hypersensitivity (ATOPY) [MIM:147050]: A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma. {ECO:0000269 PubMed:10733466}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for PLA2G7

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 PLA2G7: view

No data available for Genatlas for PLA2G7 Gene

Publications for PLA2G7 Gene

  1. Purification, properties, sequencing, and cloning of a lipoprotein-associated, serine-dependent phospholipase involved in the oxidative modification of low-density lipoproteins. (PMID: 8624782) Tew DG … Macphee CH (Arteriosclerosis, thrombosis, and vascular biology 1996) 2 3 4 23 54
  2. Identification of the G994T polymorphism in exon 9 of plasma platelet-activating factor acetylhydrolase gene as a risk factor for polycystic ovary syndrome. (PMID: 20185515) Fan P … Bai H (Human reproduction (Oxford, England) 2010) 3 23 41 54
  3. Inter-individual variability of plasma PAF-acetylhydrolase activity in ARDS patients and PAFAH genotype. (PMID: 19583678) Li S … Yates CR (Journal of clinical pharmacy and therapeutics 2009) 3 23 41 54
  4. Crystal structure of human plasma platelet-activating factor acetylhydrolase: structural implication to lipoprotein binding and catalysis. (PMID: 18784071) Samanta U … Bahnson BJ (The Journal of biological chemistry 2008) 3 4 23 54
  5. Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. (PMID: 18204052) Sutton BS … Hauser ER (Human molecular genetics 2008) 3 23 41 54

Products for PLA2G7 Gene

  • Boster Bio Antibodies for PLA2G7
  • Boster Bio ELISA Kits for PLA2G7

Sources for PLA2G7 Gene