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PAFAH2 Gene

protein-coding   GIFtS: 56

GC01M026158
platelet-activating factor acetylhydrolase 2, 40kDa
(Previous name: platelet-activating factor acetylhydrolase 2 (40kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 3.1.1.47 3
FLJ26025 2
HSD-PLA2 1, 2, 3
OTTHUMP00000008596 2
Descriptions
Serine-dependent phospholipase A2 3
platelet-activating factor acetylhydrolase 2 2
platelet-activating factor acetylhydrolase 2 (40kD) 1, 2
platelet-activating factor acetylhydrolase 2, 40kDa 2
External Ids
HGNC: 85791
Entrez Gene: 50512
UniProtKB: Q994873
Ensembl: ENSG000001580067
Search outside databases for aliases for PAFAH2 gene

Previous GC identifers: GC01M025767 GC01M025307 GC01M025520 GC01M025892 GC01M025891 GC01M025971

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

EntrezGene summary for PAFAH2:
This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit
intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of
platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine).
However, this lipase exhibits a broader substrate specificity than simply platelet activating
factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and
both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this
enzyme. [provided by RefSeq]

UniProtKB/Swiss-Prot: PAFA2_HUMAN, Q99487
Function: Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position.
May share a common physiologic function with the plasma-type enzyme

Gene Wiki entry for PAFAH2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PAFAH2 gene  

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p34.3

PAFAH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M026158:     (about GC identifiers)

Start:
26,158,845 bp from pter
End:
26,197,235 bp from pter
Size:
38,391 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_004610.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PAFA2_HUMAN, Q99487 (See protein sequence)
Recommended Name: Platelet-activating factor acetylhydrolase 2, cytoplasmic  
Size: 392 amino acids; 44036 Da
Subunit: Monomer
Subcellular location: Cytoplasm
Mass spectrometry: Mass=44162; Method=Electrospray; Range=1-392; Source=PubMed:9494101;
Secondary accessions: O15458

REFSEQ proteins: NP_000428.2  

ENSEMBL proteins: 
ENSP00000363402 ENSP00000363400 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (PAFAH2)
Human Recombinant Proteins from Abnova (PAFAH2)
              OriGene Purified Recombinant Human Protein: PAFAH2 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0008247 1-alkyl-2-acetylglycerophosphocholine esterase complex IEA--
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Antibodies for PAFAH2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PAFAH2
Browse R&D Systems for Antibodies
Antibodies from Abcam (PAFAH2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (PAFAH2)
Novus Biologicals Antibodies for PAFAH2

Assays for PAFAH2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

2 InterPro domains/families:
 IPR016715 Ac_Ohase_PAF
 IPR005065 PAF_acetylhydro_II


   GeneDecks  PAFAH2 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q99487

ProtoNet protein and cluster: Q99487

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


UniProtKB/Swiss-Prot: PAFA2_HUMAN, Q99487
Similarity: Belongs to the serine esterase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PAFAH2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000437

              Applied Biosystems Silencer® siRNAs for PAFAH2

              Sigma-Aldrich siRNA and siRNA Panels for PAFAH2  
                     Sigma-Aldrich shRNA for PAFAH2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for PAFAH2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000437
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000437
                                 untagged cDNA clone in CMV expression vector: NM_000437 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000437

UniProtKB/Swiss-Prot: PAFA2_HUMAN, Q99487
Function: Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position.
May share a common physiologic function with the plasma-type enzyme
Catalytic activity: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O =
1-alkyl-sn-glycero-3-phosphocholine + acetate
Enzyme regulation: Inhibited by phenylmethanesulfonyl fluoride, 3,4,dichloroisocoumarin,
diisopropyl fluorophosphate (DFP) and diethyl p-nitrophenyl phosphate (DENP)
Enzyme Number (IUBMB): EC 3.1.1.47 

Genatlas biochemistry entry for PAFAH2:
platelet activating factor acetylhydrolase 2,widely expressed in serum and tissues,with high
activity for oxidized phospholipids

3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pafah2):

cellularhomeostasis/metabolismliver/biliary system

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA--
GO:0005543 phospholipid binding TAS8955149
GO:0016787 hydrolase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Kegg Pathway  (Kegg details for PAFAH2):
 hsa00565 Ether lipid metabolism

   GeneDecks  PAFAH2 for the pathways selected above  
About GeneDecksing

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016042 lipid catabolic process IEA--
About this table
(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

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

Browse Tocris compounds for PAFAH2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PAFAH2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000437

              Sigma-Aldrich siRNA and siRNA Panels for PAFAH2  
                     Sigma-Aldrich shRNA for PAFAH2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000437  

REFSEQ mRNAs for PAFAH2 gene: 

NM_000437.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000437  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000437
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000437
                                 untagged cDNA clone in CMV expression vector: NM_000437 

Additional cDNA sequence: 

AK313815.1 BC001158.1 CR597579.1 D87845.1 U89386.1 

9 DOTS entries:

DT.97844200  DT.91893885  DT.100750209  DT.100750207  DT.95249956  DT.100750212  DT.91751468  DT.100750205 
DT.313239 

24/141 AceView cDNA sequences (see all 141 ):

AA297363 BQ688317 AA047674 BQ064351 AL541283 BU147124 BM984497 BQ056797 
BU185161 BQ055409 BU171117 BQ056374 BU630496 BQ428031 BU683529 BQ057778 
BQ059273 W17006 BQ054573 AI081340 AA298364 CD370919 AA704048 BQ060667 

highest scoring ESTs for PAFAH2:

D87845 BC001158 BM914579 BQ706209 BQ706374 BQ709400 BQ711177 BQ883500 BU178830 U89386 

Unigene Cluster for PAFAH2:

Platelet-activating factor acetylhydrolase 2, 40kDa
Hs.477083  [show with all ESTs]
Unigene Representative Sequence: NM_000437


GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH2 (see all 6 )

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1:                                                                                    
SP2:        -                                                                           
SP3:                                            -                                       
SP4:                    -     -                                                         
SP5:                                                        -     -                     

About this scheme

ECgene alternative splicing isoforms for PAFAH2

2 Ensembl transcripts including schematic representations:
ENST00000374284  ENST00000374282  
(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PAFAH2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH2

1 / 2 / 3

6 probe-sets matching PAFAH2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

60868_at2, 3 U95-C 1 1.00 1.00 0.95 1.27 N30123 0.40 1.00 0.76 1

35874_at2, 3 U95-A 1 1.00 1.00 0.90 0.74 D87845 1.00 1.00 1.00 1

205232_s_at2, 3 U133-A 1 1.00 1.00 -- -- U89386 0.80 1.00 0.91 1

205233_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000437 0.60 1.00 0.82 1

205232_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

205233_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.477083

Expression variation in blood from EXPOLDB for PAFAH2

UniProtKB/Swiss-Prot: PAFA2_HUMAN, Q99487
Tissue specificity: Broadly expressed in different tissues, but high in B- and T-lymphocytes. In
brain, expression is restricted to amygdala and frontal cortex

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for PAFAH2 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PAFAH21   -- platelet-activating factor acetylhydrolase 2, 40kDa 89.29(n)
88.78(a)
478174  XM_535348.2  XP_535348.2 
chimpanzee
(Pan troglodytes)
PAFAH21   -- platelet-activating factor acetylhydrolase 2, 40kDa 99.66(n)
99.49(a)
456651  XM_001137564.1  XP_001137564.1 
cow
(Bos taurus)
PAFAH21   -- platelet-activating factor acetylhydrolase 2, 40kDa 88.86(n)
88.01(a)
282299  NM_174570.2  NP_776995.1 
rat
(Rattus norvegicus)
Pafah21   -- platelet-activating factor acetylhydrolase 2 82.99(n)
81.03(a)
313611  NM_177932.2  NP_808793.1 
mouse
(Mus musculus)
Pafah21, 5 45
platelet-activating factor acetylhydrolase 21, 5 81.88(n)1
78.97(a)1
1001631  NM_133880.11  NP_598641.11 
 AI5071705  AK0759185  (see all 16)
About this table        Species with no ortholog for PAFAH2

ENSEMBL Gene Tree for PAFAH2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for PAFAH2 gene
PLA2G72  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/221 NCBI SNPs in PAFAH2 are shown (see all 221 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 76)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs27828141,2
A,C,F,H,O26159427(+) GGCACG/AAAGTC 1 -- ut318Minor allele frequency- A:0.22EU EA WA NA 776
rs112478411,2
A,C,F,H26197107(+) CCCAGC/TCAAGC 1 -- ut51 ese316Minor allele frequency- N:0.00EA NA EU WA 1418
--
rs20123111,2
A,C,F26160150(+) AAGTGC/TTGGGA 1 -- ut311Minor allele frequency- T:0.05MN 184
rs29920711,2
C,F,H26197511(-) CGGGGG/ACCATT 1 -- ng314Minor allele frequency- A:0.01EU EA WA 420
rs37384551,2
F,H26160876(+) GATCCC/TAGTCC 1 -- ut31 ese35Minor allele frequency- T:0.01EA EU WA 1918
rs30082391,2
C,H26197169(+) ACCCAG/TGAACC 1 -- ut51 ese34Minor allele frequency- T:0.00EU EA WA 420
--
rs2984581,2
A,C26158510(+) cggcaC/Tggtgg 1 -- ng510--------
rs124107111,2
C,H26189840(+) ACAGCC/TTACGA 1 G/S mis14Minor allele frequency- T:0.00EU EA WA 404
rs46593611,2
H26160646(+) CTGGGC/GTAGAG 1 -- ut31 ese34Minor allele frequency- G:0.00EU EA WA 418
rs120412171,2
H26160259(+) TTCTCT/CGTTGT 1 -- ut31 ese32Minor allele frequency- C:0.00EU WA 222
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HapMap Linkage Disequilibrium images for PAFAH2 (up to first 250kb)

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

OMIM: 602344

Human Genome Epidemiology Navigator: PAFAH2 (1 document)

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

  --

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

10 PubMed articles for PAFAH2 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 5051 HGNC: 8579 AceView: PAFAH2 Ensembl:ENSG00000158006 euGenes: HUgn5051
ECgene: PAFAH2 H-InvDB: PAFAH2
(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

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for PAFAH2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for PAFAH2 Browse small molecules at Sigma-Aldrich
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 Search Tocris compounds for PAFAH2




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