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PAPPA Gene

protein-coding   GIFtS: 62

GC09P117955
pregnancy-associated plasma protein A, pappalysin 1
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)
About This Section

Aliases
ASBABP2 1, 2
DIPLA1 1, 2
EC 3.4.24.79 3
IGFBP-4ase 1, 2, 3
OTTHUMP00000022806 2
PAPA 1, 2
PAPP-A 1, 2, 3
PAPPA1 1, 2
Descriptions
IGF-dependent IGFBP-4 protease 3
Insulin-like growth factor-dependent IGF-binding protein 4
protease 3
Pregnancy-associated plasma protein A 2, 3
aspecific BCL2 ARE-binding protein 2 2
differentially placenta 1 expressed protein 2
insulin-like growth factor-dependent IGF binding protein-4
protease 2
pregnacy-associated plasma protein A 2
pregnancy-associated plasma protein A, pappalysin 1 2
External Ids
HGNC: 86021
Entrez Gene: 50692
UniProtKB: Q132193
Ensembl: ENSG000001827527
Search outside databases for aliases for PAPPA gene

Previous GC identifers: GC09P109744 GC09P110677 GC09P112369 GC09P114292 GC09P115995

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

EntrezGene summary for PAPPA:
This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding
proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound
healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical
marker for pregnancies with aneuploid fetuses. [provided by RefSeq]

UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
Function: Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of
bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage
of IGFBP-5 is slightly inhibited by the presence of IGF

Gene Wiki entry for PAPPA (Pregnancy-associated_plasma_protein_A)

(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 PAPPA gene  

Entrez Gene cytogenetic band: 9q33.2   Ensembl cytogenetic band:  9q33.1   HGNC cytogenetic band: 9q33.1

PAPPA 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 9         GeneLoc Exon Structure

GeneLoc location for GC09P117955:     (about GC identifiers)

Start:
117,955,892 bp from pter
End:
118,204,421 bp from pter
Size:
248,530 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000009.10  NT_008470.18  
(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: PAPP1_HUMAN, Q13219 (See protein sequence)
Recommended Name: Pappalysin-1 precursor  
Size: 1627 amino acids; 180973 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer; disulfide-linked. In pregnancy serum, predominantly found as a disulfide-linked
2:2 heterotetramer with the proform of PRG2
Subcellular location: Secreted
Developmental stage: Present in serum and placenta during pregnancy; levels increase throughout
pregnancy
Sequence caution: Sequence=AAC50543.1; Type=Frameshift; Positions=51, 67;
Secondary accessions: B1AMF9 Q08371 Q68G52 Q9UDK7

Post-translational modifications:

  • There appear to be no free sulfhydryl groups1


  • REFSEQ proteins: NP_002572.2  

    ENSEMBL proteins: 
    ENSP00000330658 


    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  
    R&D Systems Recombinant & Natural Proteins for PAPPA (Pappalysin-1/PAPP-A)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PAPP A)
    Human Recombinant Proteins from Abnova (PAPPA)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS10913121
    GO:0016020 membrane IEA--
    About this table

    Antibodies for PAPPA: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PAPPA
    R&D Systems Antibodies for PAPPA (Pappalysin-1/PAPP-A)
    Antibodies from Abcam (PAPP A), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PAPPA)
    Novus Biologicals Antibodies for PAPPA

    Assays for PAPPA: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    R&D Systems ELISAs for PAPPA (Pappalysin-1/PAPP-A)         (see all)
    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

    5/7 InterPro domains/families (see all 7 ):
     IPR008754 Peptidase_M43B
     IPR011936 Myxo_disulph_rpt
     IPR016060 Complement_control_module
     IPR000800 Notch_region
     IPR000436 Sushi_SCR_CCP


       GeneDecks  PAPPA for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q13219

    ProtoNet protein and cluster: Q13219

    1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
    Similarity: Belongs to the peptidase M43B family
    Similarity: Contains 5 Sushi (CCP/SCR) domains

    (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 (PAPPA)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAPPA)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002581

                  Applied Biosystems Silencer® siRNAs for PAPPA

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

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002581
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002581
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002581 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002581

    UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
    Function: Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of
    bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage
    of IGFBP-5 is slightly inhibited by the presence of IGF
    Catalytic activity: Cleavage of the 135-Met- -Lys-136 bond in insulin-like growth factor binding
    protein (IGFBP)-4, and the 143-Ser- -Lys-144 bond in IGFBP-5
    Enzyme regulation: Inhibited by complexation with the proform of PRG2
    Induction: By 8-bromoadenosine-3',5'-phosphate
    Enzyme Number (IUBMB): EC 3.4.24.79 

    Genatlas biochemistry entry for PAPPA:
    pregnancy-associated plasma protein A

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pappa):

    growth/sizeskeleton

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008233 peptidase activity IEA--
    GO:0008237 metallopeptidase activity NAS10913121
    GO:0008270 zinc ion binding NAS10077652 10913121
    GO:0046872 metal ion binding 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 Sigma-Aldrich "Your Favorite Gene" Pathway for  PAPPA  (Your Favorite Gene powered by Ingenuity) 
     Lysine Degradation

       GeneDecks  PAPPA for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  PAPPA 


    5/21 Interacting proteins for PAPPA (ENSP000003306583 Q132192) via UniProtKB, MINT, and/or STRING (see all 21 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982MINT-62089
    IGF1ENSP000003026653STRING (score=.996)
    IGFBP4ENSP000002695933STRING (score=.994)
    PRG2ENSP000003121343STRING (score=.976)
    IGFBP5ENSP000002338133STRING (score=.97)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0007565 female pregnancy NAS10077652 10913121
    GO:0030154 cell differentiation 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 PAPPA
    10/20 Novoseek chemical compound relationships for PAPPA gene (see all 20 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    oestriol 71.64 18 7530437 (2), 10416969 (2), 8624312 (2), 10416963 (1) (see all 8)
    aopp 50.92 6 14739577 (2), 15354943 (1), 17191033 (1)
    pentosidine 25.84 3 15208163 (2), 14605280 (1)
    glycosaminoglycan 24.19 9 17145752 (2), 15066178 (1), 7508748 (1), 17040968 (1)
    progesterone 22.74 31 18402945 (4), 11750960 (4), 16055453 (4), 8473440 (3) (see all 11)
    glucose 2.25 7 15208163 (2), 18362295 (2), 1693271 (1), 17229078 (1) (see all 5)
    tyrosine 1.67 2 12571229 (1), 16258339 (1)
    lipid 1.31 6 14661010 (2), 18362295 (2), 16706128 (1)
    calcium 1.09 6 17243917 (2), 18000148 (1), 15262980 (1)
    estradiol 0.00 6 15271447 (1)
    About this table


    (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 (PAPPA)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAPPA)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002581

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

    Applied Biosystems Silencer® siRNAs: 

    NM_002581  

    REFSEQ mRNAs for PAPPA gene: 

    NM_002581.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002581  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002581
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002581
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002581 

    Additional cDNA sequence: 

    AK094182.1 AY623011.1 AY623012.1 CR597268.1 

    24/61 DOTS entries (see all 61 ):

    DT.91861595  DT.100822197  DT.91811577  DT.100822192  DT.97813532  DT.449795  DT.95260887  DT.40116919 
    DT.121144171  DT.119830  DT.86995514  DT.92012680  DT.40281278  DT.95260886  DT.101964341  DT.100824983 
    DT.121144072  DT.121144182  DT.95260898  DT.91974823  DT.75136774  DT.121144237  DT.91771685  DT.95176951 

    24/1048 AceView cDNA sequences (see all 1048 ):

    BF992397 AU135944 BG012577 AU141023 AU140651 AA705356 AA595787 AU134784 
    AU140928 AA620683 AU141017 BF990581 AI057251 AU140334 AU140381 AI492481 
    AU140498 BU752032 BX640901 AU140460 AA368580 AI168453 AU140431 H40199 

    highest scoring ESTs for PAPPA:

    AA156838 AA148534 AA004267 AA004406 AA029105 AA043911 AA046219 AA082581 AA085579 AA088178 

    Unigene Clusters for PAPPA:

    Pregnancy-associated plasma protein A, pappalysin 1
    Hs.643599  [show with all ESTs], Hs.713596  [show with all ESTs]
    Unigene Representative Sequences: NM_002581, AY623011


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PAPPA (see all 9 )

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                    -                 -                                                     -               
    SP2:                                      -     -     -     -     -     -                 -                                                                     
    SP3:                                                                                      -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26
    SP1:  -                     
    SP2:                        
    SP3:                        
    SP4:  -                     
    SP5:                        

    About this scheme

    ECgene alternative splicing isoforms for PAPPA

    1 Ensembl transcript including schematic representation:
    ENST00000328252  
    (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

    PAPPA expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PAPPA

    1 / 2 / 3

    21 probe-sets matching PAPPA gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    45332_r_at2, 3 U95-B 2 1.00 0.50 0.63 1.21 AA156838 1.00 1.00 1.00 1

    49040_at2, 3 U95-C 1 0.94 1.00 0.54 0.81 AA148534 1.00 0.90 0.95 1

    32549_at2, 3 U95-A 1 0.81 1.00 0.42 0.13 U28727 0.80 1.00 0.91 1

    232748_at2, 3 U133-B 1 1.00 1.00 -- -- AU156721 0.60 1.00 0.82 1

    224942_at2, 3 U133-B 1 1.00 1.00 -- -- BG434272 0.60 1.00 0.82 1

    201981_at2, 3 U133-A 1 1.00 1.00 -- -- AA148534 1.00 0.90 0.95 1

    201982_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002581 0.60 1.00 0.82 1

    228128_x_at2, 3 U133-B 2 1.00 0.50 -- -- AI110886 0.60 1.00 0.82 1

    224941_at2, 3 U133-B 2 1.00 0.50 -- -- BF107618 0.40 1.00 0.76 1

    224940_s_at2, 3 U133-B 2 1.00 0.50 -- -- BF107618 0.40 1.00 0.76 1

    232748_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1558608_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1558607_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    224942_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    201981_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1559400_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    201982_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    228128_x_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --

    224940_s_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --

    224941_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --

    1559928_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  PAPPA for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GATTTGTTTT

    SOURCE GeneReport for Unigene clusters: Hs.643599 Hs.713596

    Expression variation in blood from EXPOLDB for PAPPA

    UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
    Tissue specificity: High levels in placenta and pregnancy serum. In placenta, expressed in X cells
    in septa and anchoring villi, and in syncytiotrophoblasts in the chorionic villi. Lower levels are
    found in a variety of other tissues including kidney, myometrium, endometrium, ovaries, breast,
    prostate, bone marrow, colon, fibroblasts and osteoblasts

    (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 PAPPA gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PAPPA1   -- pregnancy-associated plasma protein A, pappalysin 1 89.7(n)
    92.14(a)
    481692  XM_538813.2  XP_538813.2 
    cow
    (Bos taurus)
    PAPPA1   -- pregnancy-associated plasma protein A, pappalysin 1 88.42(n)
    89.75(a)
    282647  XM_613511.3  XP_613511.3 
    rat
    (Rattus norvegicus)
    Pappa1   -- pregnancy-associated plasma protein A 88.73(n)
    91.75(a)
    313262  XM_233037.4  XP_233037.3 
    mouse
    (Mus musculus)
    Pappa1, 5 4 (32.20 cM)5
    pregnancy-associated plasma protein A1, 5 88.75(n)1
    91.44(a)1
    184911  NM_021362.11  NP_067337.11 
     AF2584615  AF2604335  (see all 14)
    chicken
    (Gallus gallus)
    PAPPA1   -- pregnancy-associated plasma protein A, pappalysin 1 78.1(n)
    79.37(a)
    417245  XM_415522.2  XP_415522.2 
    About this table        Species with no ortholog for PAPPA

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

    Paralogs for PAPPA gene
    PAPPA22  

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


    10/1304 NCBI SNPs in PAPPA are shown (see all 1304 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 523)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs10544021,2
    A,C,F,H118203330(+) GATTAC/TGTCCT 1 -- ut31 ese38Minor allele frequency- T:0.29MN NA EU EA WA 744
    rs70207821,2
    A,C,F,H118146702(+) TGCTTA/CTCTCA 1 S/Y mis1 ese39Minor allele frequency- C:0.39EU EA WA NA 906
    rs31948461,2
    A,C,F,H118202366(+) TACAGA/CCTCAG 1 -- ut31 ese35Minor allele frequency- C:0.13MN EU EA WA 602
    rs38109401,2
    A,C,F,H118201074(+) GGTACA/GAGCTA 1 -- ut31 ese310Minor allele frequency- G:0.38EA NA EU WA 2240
    rs64782351,2
    A,C,F,H118199971(+) GGCTTC/TGATCC 1 -- ut31 ese34Minor allele frequency- T:0.13EU EA WA 420
    --
    rs108178851,2
    A,C,F,H118202888(+) TATAAT/CAGCCA 1 -- ut317Minor allele frequency- C:0.12NA EU EA WA 554
    rs25651,2
    A,C,F,H118200247(-) TGGGGG/TCTTCC 1 -- ut31 ese37Minor allele frequency- T:0.19MN EA EU WA 2254
    rs3860881,2
    A,C,F,H117956014(+) AGGGGG/AAAAAT 1 -- ut51 trp35Minor allele frequency- A:0.36MN EU EA WA 596
    rs86531,2
    A,C,F,H118200569(-) CTATGA/CTAGAT 1 -- ut31 ese317Minor allele frequency- C:0.26MN NA EA EU WA 1658
    rs22960701,2
    C,F,H118198858(+) TTTACC/GCAGGA 1 -- ut31 ese312Minor allele frequency- G:0.12EA EU WA NA 2452
    About this table

    HapMap Linkage Disequilibrium images for PAPPA (up to first 250kb)

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

    OMIM: 176385

    10/46 Novoseek disease relationships for PAPPA gene (see all 46 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 93.05 253 16388509 (6), 7508624 (5), 18432600 (5), 9746387 (4) (see all 99)
    trisomy 80.07 79 10416969 (6), 7528054 (5), 15906423 (4), 7526305 (3) (see all 28)
    edwards syndrome 76.26 1 10360515 (1)
    chromosomal aberrations 70.71 30 10820406 (3), 17278174 (2), 8863700 (2), 17154335 (2) (see all 22)
    pregnancy complications 63.59 9 11028579 (3), 16086443 (2), 11038455 (1), 14663836 (1) (see all 5)
    preeclampsia 62.41 67 18000943 (6), 12648442 (5), 16493628 (5), 19215554 (5) (see all 17)
    stillbirth 56.28 12 16952214 (2), 14712947 (2), 15536112 (2), 16394054 (1) (see all 6)
    spontaneous abortion 55.25 16 15305104 (3), 12224070 (3), 11028579 (2), 15533385 (1) (see all 9)
    turners syndrome 53.83 4 10820406 (2), 19031473 (1), 16238533 (1)
    preterm delivery 47.50 26 9516016 (4), 17962103 (3), 16219520 (3), 17992705 (3) (see all 11)
    About this table

    (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

    10/447 PubMed articles for PAPPA gene (see all 447 ):
    (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: 5069 HGNC: 8602 AceView: PAPPA Ensembl:ENSG00000182752 euGenes: HUgn5069
    ECgene: PAPPA H-InvDB: PAPPA
    (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
    ATLAS Chromosomes in Cancer entry for PAPPA Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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



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