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PLA2G7 Gene

protein-coding   GIFtS: 64

GC06M046395
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
phospholipase A2, group VII (platelet-activating factor acetylhydrolase,
plasma)1 2
     1-alkyl-2-acetylglycerophosphocholine esterase2 3
PAFAH1 2 3 5     PAF acetylhydrolase2 3
LDL-PLA21 2     gVIIA-PLA22 3
Group-VIIA phospholipase A22 3     platelet-activating factor acetylhydrolase2
LDL-associated phospholipase A22 3     lipoprotein-associated phospholipase A22
PAF 2-acylhydrolase2 3     LP-PLA22
2-acetyl-1-alkylglycerophosphocholine esterase2 3     EC 3.1.1.473
LDL-PLA(2)2 3     

External Ids:    HGNC: 90401   Entrez Gene: 79412   Ensembl: ENSG000001460707   UniProtKB: Q130933   

Export aliases for PLA2G7 gene to outside databases

Previous GC identifers: GC06M046674 GC06M046718 GC06M046719 GC06M046780


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLA2G7:
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.

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093
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

summary for PLA2G7:
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic
molecules. PLA is subdivided into PLA1 which cleave phospholipids at the sn-1 ester bond and PLA2, which
cleave at the sn-2 bond. Their most common substrate is phosphatidylcholine, which generates
lysophosphatidylcholine and arachidonic acid. PLA is regulated by phosphorylation and by intracellular Ca2+
concentrations. Phospholipases are ubiquitously expressed and have diverse biological functions including
roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

Gene Wiki entry for PLA2G7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLA2G7 gene promoter:
         ER-alpha   PPAR-gamma2   PPAR-gamma1   C/EBPalpha   CHOP-10   CUTL1   c-Jun   c-Fos   AP-1   Oct-B1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PLA2G7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PLA2G7 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.2-p12   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p21.2-p12

PLA2G7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLA2G7 gene location

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M046395:  view genomic region     (about GC identifiers)

Start:
46,395,325 bp from pter
End:
46,426,641 bp from pter
Size:
31,317 bases
Orientation:
minus strand

1 alternative location:
Chr6- 46,671,938-46,703,079     
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093 (See protein sequence)
Recommended Name: Platelet-activating factor acetylhydrolase precursor  
Size: 441 amino acids; 50077 Da
Subcellular location: Secreted, extracellular space
PDB structures from and Proteopedia :
3D59 (3D)    3D5E (3D)    3F96 (3D)    3F97 (3D)    3F98 (3D)    3F9C (3D)    
Secondary accessions: A5HTT5 Q15692 Q5VTT1 Q8IVA2

Explore the universe of human proteins at neXtProt for PLA2G7: NX_Q13093 

REFSEQ proteins (2 alternative transcripts): 
NP_001161829.1  NP_005075.3  


ENSEMBL proteins: 
ENSP00000274793 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
R&D Systems Recombinant & Natural Proteins for PLA2G7 (PLA2G7/PAF-AH/Lp-PLA2)
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: PLA2G7
GenScript Custom Purified and Recombinant Proteins Services for PLA2G7 
Novus Biologicals Protein for PLA2G7
Novus Biologicals Lysate for PLA2G7
Browse Sino Biological Recombinant Proteins
ProSpec Recombinant Protein for PLA2G7

2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region IEA--
GO:0005615 extracellular space IEA--
About this table

PLA2G7 for ontologies           About GeneDecksing



Antibodies for PLA2G7: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PLA2G7
R&D Systems Antibodies for PLA2G7 (PLA2G7/PAF-AH/Lp-PLA2)
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for PLA2G7 
Novus Biologicals Antibodies for PLA2G7
Browse antibodies at Epitomics

Assays for PLA2G7: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for PLA2G7 
Browse Enzo Life Sciences for kits & assays
Browse ELISAs and CLIAs at Uscn 


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLA2G7 for domains           About GeneDecksing

2 InterPro domains/families:
 IPR016715 Ac_Ohase_PAF
 IPR005065 PAF_acetylhydro_II

Graphical View of Domain Structure for InterPro Entry Q13093

ProtoNet protein and cluster: Q13093

2 Blocks protein families:
IPB005065 Platelet-activating factor acetylhydrolase
IPB008262 Lipase


UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093
Similarity: Belongs to the AB hydrolase superfamily. Lipase family


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093
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
Catalytic activity: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine +
acetate
Enzyme Number (IUBMB): EC 3.1.1.47 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PLA2G7
Sigma-Aldrich shRNA for PLA2G7
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PLA2G7
OriGene shRNA RFP (see all 2): PLA2G7
OriGene basic RS shRNA (see all 2): PLA2G7
OriGene siRNA (see all 2): PLA2G7
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PLA2G7 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PLA2G7 
Search SABiosciences for Assays for microRNAs that regulate PLA2G7

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PLA2G7
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PLA2G7
OriGene untagged cDNA clones in CMV expression vector: PLA2G7
OriGene 3'-UTR clone: PLA2G7 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for PLA2G7 
Sino Biological Human cDNA Clone for PLA2G7

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for PLA2G7 

Genatlas biochemistry entry for PLA2G7:
phospholipase A2,groupVII,platelet activating factor acetylhydrolase plasma,inhibiting the proinflammatory properties
of PAH.The mutation V279 is a risk factor for stroke

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA--
GO:0005543 phospholipid binding TAS8675689
GO:0016787 hydrolase activity IEA--
About this table

PLA2G7 for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


PLA2G7 for pathways           About GeneDecksing

1 Millipore Pathway for PLA2G7
    Immune response CD16 signaling in NK cells

2 Kegg Pathways  (Kegg details for PLA2G7):
    hsa00565 Ether lipid metabolism
hsa01100 Metabolic pathways

    SABiosciences Pathway-Focused PCR Array including PLA2G7: PAHS-3803A 

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLA2G7

5/7 Interacting proteins for PLA2G7 (ENSP000002747933) via UniProtKB, MINT, and/or STRING (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
PAFAH1B1ENSP000000069513STRING: ENSP00000006951
CKS1BENSP000003110833STRING: ENSP00000311083
CUL1ENSP000003268043STRING: ENSP00000326804
HIST2H2ACENSP000003321943STRING: ENSP00000332194
RBX1ENSP000002162253STRING: ENSP00000216225
About this table

3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006629 lipid metabolic process TAS10748027
GO:0006954 inflammatory response TAS10748027
GO:0016042 lipid catabolic process IEA--
About this table

PLA2G7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PLA2G7 for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Compounds for PLA2G7 available from Tocris Bioscience
CompoundAction CAS number
RHC 80267Diacylglycerol lipase inhibitor[83654-05-1]
AACOCF3Phospholipase A2 inhibitor[149301-79-1]
OBAAPhospholipase A2 inhibitor--
PACOCF3Phospholipase A2 inhibitor[141022-99-3]
About this table


10/57 Novoseek chemical compound relationships for PLA2G7 gene (see all 57)
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
oxpl 84.5 6 12573364 (2), 17067985 (2), 16843649 (1)
1-alkyl-2-acetyl-sn-glycero-3-phosphocholine 77.6 2 9392426 (1)
lysophosphatidylcholine 72 20 19797705 (3), 8624782 (2), 9263748 (2), 11518762 (2) (see all 10)
phospholipid 70 16 12466264 (2), 1321830 (1), 7937948 (1), 18838739 (1) (see all 15)
aebsf 65.4 7 9195924 (1), 9626586 (1), 16603612 (1)
diisopropylfluorophosphate 64.6 7 8301198 (2), 9195924 (2), 8972457 (1)
phenylacetate 61.1 5 15163466 (1), 16079929 (1), 11171072 (1), 11834533 (1)
paraoxon 60.1 6 15163466 (1), 8537378 (1), 16079929 (1), 11834533 (1) (see all 5)
phosphatidylcholine 57.1 18 19667981 (1), 10737702 (1), 15306175 (1), 15607900 (1) (see all 10)
mafp 53.1 5 14560038 (1), 15937147 (1), 17693621 (1)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PLA2G7
Sigma-Aldrich shRNA for PLA2G7
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PLA2G7
OriGene shRNA RFP (see all 2): PLA2G7
OriGene basic RS shRNA (see all 2): PLA2G7
OriGene siRNA (see all 2): PLA2G7
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PLA2G7 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PLA2G7 
Search SABiosciences for Assays for microRNAs that regulate PLA2G7
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PLA2G7
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PLA2G7
OriGene untagged cDNA clones in CMV expression vector: PLA2G7
OriGene 3'-UTR Clone: PLA2G7 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for PLA2G7 
Primers: OriGene genome-wide validated SYBR primer pairs: PLA2G7
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for PLA2G7: PPH02634A

REFSEQ mRNAs for PLA2G7 gene (2 alternative transcripts): 

NM_001168357.1  NM_005084.3  

Additional cDNA sequence: 

AK290381.1 AK294471.1 AK297066.1 BC025674.1 BC038452.1 CR608291.1 CR608325.1 CR615354.1 
U20157.1 U24577.1 

2 DOTS entries:

DT.109680  DT.100019446 

24/40 AceView cDNA sequences (see all 40):

CR608291 AL549288 U20157 CR608325 AL554852 BC038452 CR615354 AI343491 
CK903738 BG530083 AA302965 BI768378 NM_005084 BM788963 AL575852 AI770111 
BI964070 BC025674 U24577 BI963794 AL552617 BQ011547 AW071677 AA298064 

highest scoring ESTs for PLA2G7:

U24577 AL552617 AL554852 BC038452 BI912346 CA335136 U20157 AA298064 AA302965 AL549288 

Unigene Cluster for PLA2G7:

Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
Hs.584823  [show with all ESTs]
Unigene Representative Sequence: NM_005084


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for PLA2G7
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000274793(uc010jzf.2 uc010jzg.1 uc011dwd.1 uc011dwe.1)


(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PLA2G7 expression in normal and diseased human tissues

1  / 2  / 3

3 probe-sets matching PLA2G7 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
37068_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 U24577 1.00 1.00 1.00 1
206214_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005084 0.60 1.00 0.82 1
206214_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

PLA2G7 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
PLA2G7 gene expression
PLA2G7 gene electronic northern expression
PLA2G7 gene sage expression
About these images

CGAP SAGE TAG: TTACAGAACT

SOURCE GeneReport for Unigene cluster: Hs.584823

Expression variation in blood from EXPOLDB for PLA2G7

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093
Tissue specificity: Plasma

Primers: OriGene genome-wide validated SYBR primer pairs: PLA2G7
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for PLA2G7: PPH02634A
    SABiosciences Expression via Pathway-Focused PCR Array including PLA2G7: PAHS-3803A 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PLA2G7 gene from 5/8 species (see all 8)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PLA2G71   -- phospholipase A2, group VII (platelet-activating factor more 86.17(n)
80.95(a)
403848  NM_001003198.1  NP_001003198.1 
chimpanzee
(Pan troglodytes)
PLA2G71   -- phospholipase A2, group VII (platelet-activating factor more 99.58(n)
98.99(a)
462744  XM_518519.2  XP_518519.2 
cow
(Bos taurus)
PLA2G71   -- phospholipase A2, group VII (platelet-activating factor more 86.55(n)
82.54(a)
282311  NM_174578.3  NP_777003.2 
rat
(Rattus norvegicus)
Pla2g71   -- phospholipase A2, group VII (platelet-activating factor more 74.32(n)
68.18(a)
301265  NM_001009353.1  NP_001009353.1 
mouse
(Mus musculus)
Pla2g71 , 5 17 (19.74 cM)5
phospholipase A2, group VII (platelet-activating factor more1, 5 75.3(n)1
67.27(a)1
272261  NM_013737.31  NP_038765.21 
 AK0051585  AK0052105  (see all 13)
About this table        Species with no ortholog for PLA2G7

ENSEMBL Gene Tree for PLA2G7 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for PLA2G7 gene
PAFAH22  

PLA2G7 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093
Polymorphism: The alleles Thr-198 and Val-379 are associated with atopy and asthma


10/307 NCBI SNPs in PLA2G7 are shown (see all 307)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs9183001,2
C,F,46702348(+) AGGTCA/GGGAGA 2 -- int12Minor allele frequency- G:0.12NS 82
rs9621051,2
C,F,A,H,46699739(+) tctctT/Ctataa 2 -- int18Minor allele frequency- C:0.24NS NA EA WA 310
rs10519311,2
C,F,A,H,46672943(+) TAGCTA/GCATTT 4 A V mis1 ref126Minor allele frequency- N:0.00EA MN NA NS 2936
rs13629311,2
C,F,O,H,46682079(+) AGGAAC/ACCCAA 2 -- int119Minor allele frequency- A:0.11EA NS NA WA 2424
rs14213671,2
H46695992(+) ttttgC/Gccccc 2 -- int14Minor allele frequency- G:0.00NS EA 414
rs14213681,2
C,F,O,H,46696593(+) TcagaA/Gtaata 2 -- int121Minor allele frequency- G:0.04EA NA NS WA 1124
rs14213691,2
C,F,A,46700706(+) TATCAC/TGAATC 2 -- int111Minor allele frequency- T:0.46MN NS NA EA WA 498
rs14213721,2
C,F,O,H,46681403(+) CTTGAG/AGTAGA 2 -- int119Minor allele frequency- A:0.15MN NS EA NA WA 1004
rs14213781,2
C,F,A,H,46703513(+) CTCCGA/GTACAC 2 -- ng5122Minor allele frequency- G:0.46MN NS EA NA WA 1654
rs18050171,2
C,F,O,46684222(-) TGATCA/GCCTTG 4 H R mis1 ref123Minor allele frequency- N:0.00NA EA MN NS WA 1666
About this table

HapMap Linkage Disequilibrium images for PLA2G7 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PLA2G7
     1 CNV: 3611

QIAGEN SeqTarget long-range PCR primers for resequencing PLA2G7 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PLA2G7 for disorders           About GeneDecksing

OMIM: 601690

UniProtKB/Swiss-Prot: PAFA_HUMAN, Q13093

  • Defects in PLA2G7 are the cause of platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency)
  • [MIM:601690]. It is a trait which is present in 27% of Japanese. It could have a significant physiologic effect in the
    presence of inflammatory bodily responses

    10/67 Novoseek disease relationships for PLA2G7 gene (see all 67)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lissencephaly sequence, isolated 77.7 2 9729401 (1), 16510495 (1)
    atherosclerosis 65.3 53 11369691 (5), 19797705 (3), 15166791 (3), 12428682 (2) (see all 27)
    cerebral thrombosis 55.6 2 1636183 (1), 1414232 (1)
    inflammation 54.2 47 15710755 (3), 18949548 (3), 19797705 (3), 17251670 (2) (see all 33)
    enterocolitis necrotizing 46.6 2 9396557 (1), 8228643 (1)
    coronary artery disease 39.9 18 15115767 (2), 15710755 (2), 15166791 (2), 10856534 (1) (see all 14)
    acute respiratory distress 38.1 6 12794395 (2), 12626982 (1), 15818104 (1), 15187544 (1)
    abetalipoproteinemia 37.8 1 9392426 (1)
    atherosclerotic plaque 35 3 20065996 (1), 11788123 (1), 15148590 (1)
    respiratory distress syndrome 34.6 7 12794395 (2), 12626982 (1), 15187544 (1), 15818104 (1) (see all 5)
    About this table

    Human Gene Mutation Database (HGMD): PLA2G7
    Genetic Association Database (GAD): PLA2G7
    Human Genome Epidemiology (HuGE) Navigator: PLA2G7 (40 documents)

    Export disorders and mutations for PLA2G7 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/401 PubMed articles for PLA2G7 gene, integrated from 7 sources (see all 401):
    (articles sorted by number of sources associating them with PLA2G7)
    1. Purification, properties, sequencing, and cloning of a lipoprotein-associated, serine-dependent phospholipase involved in the oxidative modification of low-density lipoproteins. (PubMed id 8624782)1, 2, 3, 7 Tew D.G....Macphee C.H. (1996)
    2. Anti-inflammatory properties of a platelet-activating factor acetylhydrolase. (PubMed id 7700381)1, 2, 3, 7 Tjoelker L.W.... Gray P.W. (1995)
    3. Platelet-activating factor acetylhydrolase is not associated with carotid intima-media thickness in hypercholesterolemic Sicilian individuals. (PubMed id 15364890)1, 4, 7 Campo S....Saitta A. (2004)
    4. Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease. (PubMed id 15115767)1, 4, 7 Ninio E....Tiret L. (2004)
    5. The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. (PubMed id 10733466)1, 2, 7 Kruse S....Deichmann K.A. (2000)
    6. Crystal structure of human plasma platelet-activating factor acetylhydrolase: structural implication to lipoprotein binding and catalysis. (PubMed id 18784071)1, 2, 7 Samanta U. and Bahnson B.J. (2008)
    7. Allelic association analysis of phospholipase A2 genes with schizophrenia. (PubMed id 15318030)1, 4, 7 Junqueira R....Vallada H. (2004)
    8. Association of a G994 -->T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with risk of abdominal aortic aneurysm in Japanese. (PubMed id 11807372)1, 4, 7 Unno N....Nakamura S. (2002)
    9. Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm. (PubMed id 11810302)1, 4, 7 Ito T....Ogawa H. (2002)
    10. Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia. (PubMed id 11850055)1, 4, 7 Ohtsuki T....Arinami T. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7941 HGNC: 9040 AceView: PLA2G7 Ensembl:ENSG00000146070 euGenes: HUgn7941
    ECgene: PLA2G7 Kegg: 7941 H-InvDB: PLA2G7

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    SeattleSNPshttp://pga.gs.washington.edu/data/pla2g7/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for PLA2G7 gene:
    Search GeneIP for patents involving PLA2G7

    GeneCards and IP:
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