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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTAFR Gene

protein-coding   GIFtS: 65
GCID: GC01M028473

Platelet-Activating Factor Receptor

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Platelet-Activating Factor Receptor1 2
PAF-R2 3
PAFR2 3
PAFr3

External Ids:    HGNC: 95821   Entrez Gene: 57242   Ensembl: ENSG000001694037   OMIM: 1733935   UniProtKB: P251053   

Export aliases for PTAFR gene to outside databases

Previous GC identifers: GC01P026956 GC01M027486 GC01M027708 GC01M028080 GC01M028161 GC01M028346 GC01M026730


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

Entrez Gene summary for PTAFR Gene:
This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that
localizes to lipid rafts and/or caveolae in the cell membrane. PAF
(1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic
transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the
PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2,
mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system.
Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR
phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for PTAFR Gene: 
PTAFR (platelet-activating factor receptor) is a protein-coding gene. Diseases associated with PTAFR include acute pancreatitis, and relapsing-remitting multiple sclerosis, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and lipopolysaccharide binding. An important paralog of this gene is P2RY4.

UniProtKB/Swiss-Prot: PTAFR_HUMAN, P25105
Function: Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent
inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein
that activates a phosphatidylinositol-calcium second messenger system

summary for PTAFR Gene:
Platelet-activating factor receptor (PAF-R) is a Gq/G11-coupled-protein receptor that has a role in a wide
range of biological processes such as vasodilation, superoxide formation, cell proliferation, angiogenesis
and regulation of the inflammatory response. PAF-R is linked to multiple intracellular signaling pathways,
including the p38 MAPK and PI 3-K pathways, through increasing intracellular calcium mobilization,
increasing IP3 synthesis and decreasing cAMP formation. PAF-R has a wide biological distribution with high
expression levels in the spleen and skeletal muscles and lower concentrations in the small intestine, lung,
heart and liver. The human gene encoding the PAF-R is located on chromosome 1p35-34.3.

Gene Wiki entry for PTAFR (Platelet-activating factor receptor) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTAFR gene promoter:
         HTF   XBP-1   IRF-1   Nkx5-1   Roaz   C/EBPalpha   IRF-2   Pax-4a   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTAFR promoter sequence
   Search SABiosciences Chromatin IP Primers for PTAFR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTAFR


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

Entrez Gene cytogenetic band: 1p35-p34.3   Ensembl cytogenetic band:  1p35.3   HGNC cytogenetic band: 1p35-p34.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M028473:  view genomic region     (about GC identifiers)

Start:
28,473,677 bp from pter      End:
28,520,447 bp from pter
Size:
46,771 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTAFR_HUMAN, P25105 (See protein sequence)
Recommended Name: Platelet-activating factor receptor  
Size: 342 amino acids; 39203 Da
Subunit: Interacts with ARRB1
Subcellular location: Cell membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for PTAFR:
2B0X (3D)    
Secondary accessions: A3KMC8 A8K2H5

Explore the universe of human proteins at neXtProt for PTAFR: NX_P25105

Explore proteomics data for PTAFR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P25105

  • PTAFR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTAFR Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000943.1  NP_001158193.1  NP_001158194.1  NP_001158195.1  

    ENSEMBL proteins: 
     ENSP00000362965   ENSP00000301974   ENSP00000442658  
    Reactome Protein details: P25105
    Human Recombinant Protein Products for PTAFR: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8168510
    GO:0016020membrane IDA1374385

    PTAFR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PTAFR: GPCR / Class A : Platelet-activating factor receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: PAF receptor 
    Platelet-activating factor receptor

    3 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR002282 PAF_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P25105

    ProtoNet protein and cluster: P25105

    1 Blocks protein domain: IPB002282 Platelet activating factor receptor signature

    UniProtKB/Swiss-Prot: PTAFR_HUMAN, P25105
    Similarity: Belongs to the G-protein coupled receptor 1 family


    PTAFR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTAFR_HUMAN, P25105
    Function: Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent
    inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein
    that activates a phosphatidylinositol-calcium second messenger system
    Induction: By CSF2/GM-CSF, IL5/interleukin-5 and n-butyrate

         Genatlas biochemistry entry for PTAFR:
    platelet activating factor,receptor,G protein coupled receptor superfamilu

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001530lipopolysaccharide binding IEA--
    GO:0001875lipopolysaccharide receptor activity IEA--
    GO:0004930G-protein coupled receptor activity TAS1322356
    GO:0004992platelet activating factor receptor activity IDA1281995
    GO:0005543phospholipid binding IDA1656963
         
    PTAFR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PTAFR:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ptafr):
     cardiovascular system  immune system  nervous system  reproductive system 

    PTAFR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTAFR: Ptafrtm1Tksh Ptafrtm1Eit

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTAFR 
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    SwitchGear 3'UTR luciferase reporter plasmidPTAFR 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTAFR


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTAFR About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.41
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.37
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61
    4G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    5Immune System
    Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PTAFR
        GPCRs, Class A Rhodopsin-like
    Small Ligand GPCRs


    5/11        Reactome Pathways for PTAFR (see all 11)
        GPCR downstream signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system
    Gastrin-CREB signalling pathway via PKC and MAPK
    Signaling by GPCR


    3         Kegg Pathways  (Kegg details for PTAFR):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Staphylococcus aureus infection


    PTAFR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTAFR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/174 Interacting proteins for PTAFR (P251053 ENSP000003019744) via UniProtKB, MINT, STRING, and/or I2D (see all 174)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB2P321213, ENSP000002692604I2D: score=3 STRING: ENSP00000269260
    ARR3P365753, ENSP000003115384I2D: score=3 STRING: ENSP00000311538
    TYK2P295973, ENSP000002648184I2D: score=3 STRING: ENSP00000264818
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ARRB1P494073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IEA--
    GO:0006935chemotaxis IEA--
    GO:0006954inflammatory response IEA--
    GO:0006955immune response TAS8892648
    GO:0007186G-protein coupled receptor signaling pathway IMP1657923

    PTAFR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTAFR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for PTAFR

    Compounds for PTAFR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ginkgolide BPAF receptor antagonist[15291-77-7]
    PAF (C16)Endogenous platelet-activating factor (PAF)[74389-68-7]
    WEB 2086Potent PAF receptor antagonist[105219-56-5]
    PCA 4248PAF receptor antagonist[123875-01-4]

    1 HMDB Compound for PTAFR    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/21 IUPHAR Ligands for PTAFR (PAF receptor) (see all 21)    About this table 
    LigandTypeActionAffinityPubmed IDs
    SR 27417
    AntagonistAntagonist10.38395255
    ABT-299
    AntagonistAntagonist9.58667228
    ABT-491
    AntagonistAntagonist9.29151941
    Y-24180
    AntagonistAntagonist91657923
    [3H]PAF
    AgonistFull agonist8.8 - 8.911560941 1657923
    [3H]52770 RP
    AntagonistAntagonist8.42831350
    CV-6209
    AntagonistAntagonist8.1 - 8.315922596 1657923
    52770 RP
    AntagonistAntagonist8.22831350
    [3H]apafant
    AntagonistAntagonist7.4 - 811560941 7594622 1657923
    PAF
    AgonistFull agonist7.5 - 7.98798529 1657923

    10/63 Novoseek inferred chemical compound relationships for PTAFR gene (see all 63)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    web2086 85.1 10 17609120 (6), 11560941 (1), 9603913 (1)
    ginkgolide b 81 38 17908463 (3), 10585024 (2), 11971026 (1), 18632638 (1) (see all 10)
    lexipafant 76.9 5 11990391 (2), 16495704 (1), 10681340 (1), 11944906 (1)
    cpaf 75.6 2 9668065 (1)
    cv 3988 75.2 2 14675188 (1), 18495219 (1)
    etizolam 66.8 3 16377949 (2), 11944589 (1)
    rupatadine 65.4 3 10556945 (2), 17020424 (1)
    tmtu 62.5 1 9668065 (1)
    phospholipid 58.7 6 12449015 (1), 16306050 (1), 20421642 (1), 12861392 (1) (see all 5)
    leukotriene b4 58.6 10 10601267 (1), 7631812 (1), 8742493 (1), 1658151 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about PTAFR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTAFR gene (4 alternative transcripts): 
    NM_000952.4  NM_001164721.1  NM_001164722.2  NM_001164723.2  

    Unigene Cluster for PTAFR:

    Platelet-activating factor receptor
    Hs.77542  [show with all ESTs]
    Unigene Representative Sequence: NM_001164723
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373857(uc021ojz.1 uc001bpl.3) ENST00000305392 ENST00000539896(uc009vte.3 uc001bpm.4)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTAFR

    Additional mRNA sequence: 

    AK290240.1 AK292053.1 AK313174.1 AY275466.1 BC013816.2 BC063000.1 BT009801.1 D10202.1 
    D31736.1 L07334.1 M76674.1 S52624.1 

    9 DOTS entries:

    DT.109739  DT.100690408  DT.311138  DT.100752074  DT.101982673  DT.100752073  DT.121422460  DT.100752075 
    DT.97809853 

    24/61 AceView cDNA sequences (see all 61):

    AU076716 BX283410 AL548031 AU099294 BC063000 AY275466 BF796785 NM_000952 
    BP349383 CR621278 BC013816 CR600205 BP345735 BI821885 BT009801 CD013879 
    BF908177 BX327848 L07334 CF147777 CD705342 AW408130 CD609910 BM922568 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PTAFR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d
    SP1:                          -     -                           
    SP2:                    -     -                                 
    SP3:                                -                           
    SP4:                    -     -     -                           


    ECgene alternative splicing isoforms for PTAFR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTAFR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCAAGAGA
    PTAFR Expression
    About this image


    See PTAFR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTAFR

    SOURCE GeneReport for Unigene cluster: Hs.77542

    UniProtKB/Swiss-Prot: PTAFR_HUMAN, P25105
    Tissue specificity: Expressed in the placenta, lung, left and right heart ventricles, heart atrium, leukocytes and
    differentiated HL-60 granulocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including PTAFR: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PTAFR gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptafr1 , 5 platelet-activating factor receptor1, 5 82.31(n)1
    81.82(a)1
      4 (65.56 cM)5
    192041  NM_001081211.11  NP_001074680.11 
     1325640675 
    chicken
    (Gallus gallus)
    Aves PTAFR1 platelet-activating factor receptor 67.09(n)
    65.3(a)
      428209  XM_425768.1  XP_425768.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTAFR6
    Uncharacterized protein
    55(a)
    1 ↔ 1
    GL343743.1(136566-137636)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC528962 hypothetical protein MGC52896 74.06(n)    BC046657.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000026271 platelet-activating factor receptor-like 55.17(n)
    48.28(a)
      100002627  XM_001342336.1  XP_001342372.1 


    ENSEMBL Gene Tree for PTAFR (if available)
    TreeFam Gene Tree for PTAFR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTAFR gene
    P2RY42  CYSLTR12  LPAR42  CYSLTR22  P2RY22  OXGR12  P2RY112  P2RY12  
    GPR172  P2RY62  GPR1742  LPAR62  LPAR52  GPR1832  P2RY102  SUCNR12  
    18/21 SIMAP similar genes for PTAFR using alignment to 1 protein entry:     PTAFR_HUMAN(see all similar genes):
    CYSLTR1    F2RL1    GPR34    GPR4    LPAR6    P2RY5
    CCR6    GPR17    LPAR4    P2RY12    CYSLTR2    KPG_011
    P2RY1    P2RY14    GPR174    GPR68    P2RY4    AGTR1

    PTAFR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/888 SNPs in PTAFR are shown (see all 888)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998743711,2
    --26751319(+) TTTTT-/TATTTTT 4 -- int10--------
    rs2012244081,2
    --26751320(+) TTTTT-/ATTTTT 4 -- int10--------
    rs715868291,2
    C--28480593(+) AAAAA-/AGGGAG 4 -- int11Minor allele frequency- A:0.50NA 2
    rs339655041,2
    C--28494462(+) TTTTT-/TGAGAT 4 -- int11Minor allele frequency- T:0.00NA 2
    rs1115182251,2
    F--28504933(+) CGCCCA/GGCTAA 4 -- int1 us2k11Minor allele frequency- G:0.00CSA 1
    rs1128472681,2
    C,F--28509378(+) GTAGAC/GATGGG 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs1123366081,2
    C--28521879(+) CGGGAA/GGGGGA 2 -- us2k12Minor allele frequency- G:0.00NA 4
    rs1151677601,2
    C,F--28691904(+) GATTGT/CGATTC 4 -- ds50011Minor allele frequency- C:0.12WA 118
    rs1380588631,2
    --28691912(+) TTCTCC/TTGCCT 4 -- ds50010--------
    rs1922494211,2
    --28692032(+) TTGAAC/TGTCTG 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for PTAFR (28473677 - 28520447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTAFR:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678105CNV Deletion23128226
    nsv7546CNV Loss18451855
    nsv871151CNV Gain21882294


    Human Gene Mutation Database (HGMD): PTAFR
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 173393    OMIM disorders: --

    20/31 diseases for PTAFR (see all 31):    About MalaCards
    acute pancreatitis    relapsing-remitting multiple sclerosis    sickle cell disease    skin disease
    blindness    pertussis    atherosclerosis    asthma
    pneumonia    thrombosis    melanoma    multiple sclerosis
    osteosarcoma    pancreatitis    neuroblastoma    ischemia
    endotheliitis    hypoxia    schizophrenia    hepatitis b


    PTAFR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/28 Novoseek inferred disease relationships for PTAFR gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hematoma subdural chronic 42.8 3 16377949 (1), 16358931 (1), 11944589 (1)
    pneumococcal infections 38.7 3 17230418 (2), 18684852 (1)
    inflammation 33.7 2 16306050 (1), 9712066 (1)
    asthma allergic 23.7 2 9363928 (1), 8207248 (1)
    necrosis 18.8 10 11571293 (2), 15875531 (1), 10480902 (1), 12601006 (1) (see all 7)
    atherosclerosis 11.7 1 11085958 (1)
    shock septic 11 1 8556312 (1)
    sepsis 10.9 12 7956274 (6), 9875905 (2), 10681340 (1), 17516700 (1)
    atherosclerotic plaque 10.3 4 11085958 (2), 16793019 (2)
    systemic inflammatory response syndrome 9.24 2 7956274 (2)

    Genetic Association Database (GAD): PTAFR
    Human Genome Epidemiology (HuGE) Navigator: PTAFR (8 documents)

    Export disorders for PTAFR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PTAFR gene, integrated from 9 sources (see all 227):
    (articles sorted by number of sources associating them with PTAFR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human platelet-activating factor receptor gene (PTAFR) contains no introns and maps to chromosome 1. (PubMed id 1322356)1, 2, 3, 9 Seyfried C.E.... Gray P.W. (1992)
    2. Platelet-activating factor-induced clathrin-mediated endocytosis requires beta-arrestin-1 recruitment and activation of the p38 MAPK signalosome at the plasma membrane for actin bundle formation. (PubMed id 16709866)1, 2, 9 McLaughlin N.J....Silliman C.C. (2006)
    3. Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis. (PubMed id 15748960)1, 4, 9 Osoegawa M....Kira J. (2005)
    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, 9 Ninio E....Tiret L. (2004)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (1999)
    8. Cloning of a human platelet-activating factor receptor gene: evidence for an intron in the 5'-untranslated region. (PubMed id 8383507)1, 2 Chase P.B.... Regan J.W. (1993)
    9. The human leukocyte platelet-activating factor receptor. cDNA cloning, cell surface expression, and construction of a novel epitope- bearing analog. (PubMed id 1374385)1, 2 Kunz D.... Gerard C. (1992)
    10. Molecular cloning and characterization of the platelet-activating factor receptor gene expressed in the human heart. (PubMed id 1281995)1, 2 Sugimoto T....Kurachi Y. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5724 HGNC: 9582 AceView: PTAFR Ensembl:ENSG00000169403 euGenes: HUgn5724
    ECgene: PTAFR Kegg: 5724 H-InvDB: PTAFR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTAFR Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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