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Aliases for PAFAH2 Gene

Aliases for PAFAH2 Gene

  • Platelet Activating Factor Acetylhydrolase 2 2 3 5
  • Platelet-Activating Factor Acetylhydrolase 2, 40kDa 2 3
  • Serine-Dependent Phospholipase A2 3 4
  • HSD-PLA2 3 4
  • SD-PLA2 3 4
  • Platelet-Activating Factor Acetylhydrolase 2, Cytoplasmic 3
  • Platelet-Activating Factor Acetylhydrolase 2 (40kD) 2
  • EC 3.1.1.47 4

External Ids for PAFAH2 Gene

Previous GeneCards Identifiers for PAFAH2 Gene

  • GC01M025767
  • GC01M025307
  • GC01M025520
  • GC01M025892
  • GC01M025891
  • GC01M026158
  • GC01M026286
  • GC01M024540

Summaries for PAFAH2 Gene

Entrez Gene Summary for PAFAH2 Gene

  • 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, Jul 2008]

GeneCards Summary for PAFAH2 Gene

PAFAH2 (Platelet Activating Factor Acetylhydrolase 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Metabolism. Gene Ontology (GO) annotations related to this gene include phospholipid binding and 1-alkyl-2-acetylglycerophosphocholine esterase activity. An important paralog of this gene is PLA2G7.

UniProtKB/Swiss-Prot for PAFAH2 Gene

  • 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 Gene

Additional gene information for PAFAH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH2 Gene

Genomics for PAFAH2 Gene

GeneHancer (GH) Regulatory Elements for PAFAH2 Gene

Promoters and enhancers for PAFAH2 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
GH01J025995 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 663.7 +0.6 628 4.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 PAFAH2 ARID1A HMGN2 LOC101928324 GPN2 ENSG00000261349 SYF2 LOC101928728 ENSG00000207302 RPL17P9
GH01J026015 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 16.1 -20.6 -20566 8.1 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF121 ZNF143 ATF7 RUNX3 SP5 GC01M026017 EXTL1 ARID1A PAFAH2 HMGN2 SYF2 ENSG00000261349 LOC101928324 RPL17P9 LOC101928216
GH01J025888 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 12.6 +105.9 105948 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A IRF4 E2F8 ZNF143 FOS PAQR7 SELENON MTFR1L ARID1A PAFAH2 ENSG00000252691 ENSG00000252190 EXTL1 RNU6-110P SLC30A2
GH01J026043 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12.3 -48.5 -48474 7.2 PKNOX1 ZFP64 ZNF766 CAVIN1 ZNF592 MEF2D ZNF184 KDM1A KLF1 SUZ12 SLC30A2 LOC105376910 ARID1A PAFAH2 TRIM63 SELENON HMGN2 CNKSR1
GH01J025988 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +6.8 6823 7.3 HDAC1 PKNOX1 TAF9B SIN3A TCF12 ZNF121 ZBTB11 ZEB2 PPARG ZNF592 PAFAH2 RNU6-110P STMN1 EXTL1 SLC30A2 TRIM63 FAM110D PIR35611 GC01M025975
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAFAH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAFAH2 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • USF-1
  • USF1
  • NF-kappaB2
  • AREB6
  • Max1
  • c-Myc

Genomic Locations for PAFAH2 Gene

Genomic Locations for PAFAH2 Gene
chr1:25,959,764-25,998,581
(GRCh38/hg38)
Size:
38,818 bases
Orientation:
Minus strand
chr1:26,286,258-26,324,648
(GRCh37/hg19)
Size:
38,391 bases
Orientation:
Minus strand

Genomic View for PAFAH2 Gene

Genes around PAFAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAFAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAFAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH2 Gene

Proteins for PAFAH2 Gene

  • Protein details for PAFAH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99487-PAFA2_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase 2, cytoplasmic
    Protein Accession:
    Q99487
    Secondary Accessions:
    • D3DPK1
    • O15458
    • Q5SY02

    Protein attributes for PAFAH2 Gene

    Size:
    392 amino acids
    Molecular mass:
    44036 Da
    Quaternary structure:
    • Monomer.

neXtProt entry for PAFAH2 Gene

Post-translational modifications for PAFAH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PAFAH2 Gene

Domains & Families for PAFAH2 Gene

Gene Families for PAFAH2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PAFAH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99487

UniProtKB/Swiss-Prot:

PAFA2_HUMAN :
  • Belongs to the serine esterase family.
Family:
  • Belongs to the serine esterase family.
genes like me logo Genes that share domains with PAFAH2: view

Function for PAFAH2 Gene

Molecular function for PAFAH2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phenylmethanesulfonyl fluoride, 3,4,dichloroisocoumarin, diisopropyl fluorophosphate (DFP) and diethyl p-nitrophenyl phosphate (DENP).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=42 uM for 2-O-acetyl-1-O-hexadecyl-sn-glycero-3- phosphocholine (PAF) {ECO:0000269 PubMed:9494101}; KM=10 uM for 1-decanoyl-2-(4-nitrophenylglutaryl) phosphate (DNGP) {ECO:0000269 PubMed:9494101}; Vmax=35 umol/min/mg enzyme with 2-O-acetyl-1-O-hexadecyl-sn- glycero-3-phosphocholine (PAF) as substrate {ECO:0000269 PubMed:9494101}; Vmax=1.7 umol/min/mg enzyme with 1-decanoyl-2-(4- nitrophenylglutaryl) phosphate (DNGP) as substrate {ECO:0000269 PubMed:9494101};
GENATLAS Biochemistry:
platelet activating factor acetylhydrolase 2,widely expressed in serum and tissues,with high activity for oxidized phospholipids

Enzyme Numbers (IUBMB) for PAFAH2 Gene

Phenotypes From GWAS Catalog for PAFAH2 Gene

Gene Ontology (GO) - Molecular Function for PAFAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity TAS --
GO:0005543 phospholipid binding TAS 8955149
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PAFAH2: view
genes like me logo Genes that share phenotypes with PAFAH2: view

Animal Models for PAFAH2 Gene

MGI Knock Outs for PAFAH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PAFAH2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAFAH2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAFAH2 Gene

Localization for PAFAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH2 Gene

Cytoplasm. Membrane; Lipid-anchor. Endoplasmic reticulum membrane; Lipid-anchor. Note=In resting cells, localizes to intracellular membranes and cytoplasm. Translocates from the cytoplasm to intracellular membranes upon oxidative stress. {ECO:0000250 UniProtKB:P79106}.

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 PAFAH2 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PAFAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PAFAH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PAFAH2 Gene

Pathways & Interactions for PAFAH2 Gene

genes like me logo Genes that share pathways with PAFAH2: view

Pathways by source for PAFAH2 Gene

2 Reactome pathways for PAFAH2 Gene
2 KEGG pathways for PAFAH2 Gene

Interacting Proteins for PAFAH2 Gene

Gene Ontology (GO) - Biological Process for PAFAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 8955149
GO:0007596 blood coagulation TAS --
GO:0016042 lipid catabolic process IEA --
GO:0043066 negative regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with PAFAH2: view

No data available for SIGNOR curated interactions for PAFAH2 Gene

Drugs & Compounds for PAFAH2 Gene

(2) Drugs for PAFAH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 116

(36) Additional Compounds for PAFAH2 Gene - From: HMDB

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)
genes like me logo Genes that share compounds with PAFAH2: view

Transcripts for PAFAH2 Gene

Unigene Clusters for PAFAH2 Gene

Platelet-activating factor acetylhydrolase 2, 40kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAFAH2

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1:
SP2: -
SP3: -
SP4: - -
SP5: - -
SP6:

Relevant External Links for PAFAH2 Gene

GeneLoc Exon Structure for
PAFAH2
ECgene alternative splicing isoforms for
PAFAH2

Expression for PAFAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAFAH2 Gene

mRNA differential expression in normal tissues according to GTEx for PAFAH2 Gene

This gene is overexpressed in Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for PAFAH2 Gene

This gene is overexpressed in Plasma (23.3) and Stomach (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAFAH2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PAFAH2 Gene:

PAFAH2

SOURCE GeneReport for Unigene cluster for PAFAH2 Gene:

Hs.477083

mRNA Expression by UniProt/SwissProt for PAFAH2 Gene:

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

Evidence on tissue expression from TISSUES for PAFAH2 Gene

  • Nervous system(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PAFAH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAFAH2 Gene

Orthologs for PAFAH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAFAH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAFAH2 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH2 34 33
  • 89.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAFAH2 34 33
  • 88.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pafah2 33
  • 82.99 (n)
mouse
(Mus musculus)
Mammalia Pafah2 16 34 33
  • 81.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PAFAH2 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH2 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAFAH2 34 33
  • 64.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAFAH2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah2 33
  • 55.97 (n)
worm
(Caenorhabditis elegans)
Secernentea paf-1 34 35 33
  • 46.59 (n)
ManyToMany
paf-2 34 35
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for PAFAH2 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)
  • zebrafish (Danio rerio)

Evolution for PAFAH2 Gene

ENSEMBL:
Gene Tree for PAFAH2 (if available)
TreeFam:
Gene Tree for PAFAH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAFAH2: view image

Paralogs for PAFAH2 Gene

Paralogs for PAFAH2 Gene

(1) SIMAP similar genes for PAFAH2 Gene using alignment to 3 proteins:

  • PAFA2_HUMAN
  • Q5SY00_HUMAN
  • Q5SY01_HUMAN
genes like me logo Genes that share paralogs with PAFAH2: view

Variants for PAFAH2 Gene

Sequence variations from dbSNP and Humsavar for PAFAH2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000123505 -- 25,979,691(-) T/C intron_variant
rs1000163277 -- 25,998,206(-) G/T upstream_transcript_variant
rs1000191127 -- 25,981,093(-) T/C intron_variant
rs1000192541 -- 25,965,946(-) A/C intron_variant
rs1000238911 -- 25,962,121(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PAFAH2 Gene

Variant ID Type Subtype PubMed ID
nsv1113092 CNV deletion 24896259
nsv1160537 CNV duplication 26073780
nsv7501 CNV insertion 18451855
nsv834502 CNV gain 17160897
nsv834513 CNV gain 17160897

Variation tolerance for PAFAH2 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAFAH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAFAH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH2 Gene

Disorders for PAFAH2 Gene

Additional Disease Information for PAFAH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PAFAH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAFAH2 Gene

Publications for PAFAH2 Gene

  1. Expression, purification and characterization of a human serine-dependent phospholipase A2 with high specificity for oxidized phospholipids and platelet activating factor. (PMID: 9494101) Rice SQ … Tew DG (The Biochemical journal 1998) 2 3 4 22 58
  2. cDNA cloning and expression of intracellular platelet-activating factor (PAF) acetylhydrolase II. Its homology with plasma PAF acetylhydrolase. (PMID: 8955149) Hattori K … Inoue K (The Journal of biological chemistry 1996) 2 3 4 58
  3. A single nucleotide polymorphism in the plasma PAF acetylhydrolase gene and risk of atherosclerosis in Japanese patients with peripheral artery occlusive disease. (PMID: 16650870) Unno N … Konno H (The Journal of surgical research 2006) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Platelet-activating factor acetylhydrolases. (PMID: 9218411) Stafforini DM … Prescott SM (The Journal of biological chemistry 1997) 3 4 58

Products for PAFAH2 Gene

Sources for PAFAH2 Gene

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