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

PAPPA2 Gene

protein-coding   GIFtS: 60
GCID: GC01P176432

Pappalysin 2

(Previous name: placenta-specific 3)
(Previous symbol: PLAC3)
  See related diseases
at  

(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
Pappalysin 21 2     PAPPE2
PLAC31 2 3     pappalysin-22
Placenta-Specific 31 2     Pregnancy-Associated Plasma Preproprotein-A22
Pregnancy-Associated Plasma Protein E12 3     EC 3.4.24.-3
PAPP-A22 3     Pregnancy-Associated Plasma Protein A23
PAPP-E2 3     

External Ids:    HGNC: 146151   Entrez Gene: 606762   Ensembl: ENSG000001161837   UniProtKB: Q9BXP83   

Export aliases for PAPPA2 gene to outside databases

Previous GC identifers: GC01P173163 GC01P174698 GC01P147658


(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 PAPPA2 Gene:
This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves
insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor
(IGF) bioavailability. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul
2010)

GeneCards Summary for PAPPA2 Gene: 
PAPPA2 (pappalysin 2) is a protein-coding gene. Diseases associated with PAPPA2 include developmental dysplasia of hip, and hellp syndrome, and among its related super-pathways are Post-translational protein modification. GO annotations related to this gene include metallopeptidase activity and zinc ion binding. An important paralog of this gene is PAPPA.

UniProtKB/Swiss-Prot: PAPP2_HUMAN, Q9BXP8
Function: Metalloproteinase which specifically cleaves IGFBP-5. Shows limited proteolysis toward IGFBP-3

Gene Wiki entry for PAPPA2 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  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAPPA2 gene promoter:
         STAT1   Tal-1   HTF   Lmo2   Cdc5   GATA-1   E47   FOXJ2 (long isoform)   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAPPA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAPPA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAPPA2


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

Entrez Gene cytogenetic band: 1q23-q25   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q23-q25

PAPPA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAPPA2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P176432:  view genomic region     (about GC identifiers)

Start:
176,432,307 bp from pter      End:
176,814,735 bp from pter
Size:
382,429 bases      Orientation:
plus 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: PAPP2_HUMAN, Q9BXP8 (See protein sequence)
Recommended Name: Pappalysin-2 precursor  
Size: 1791 amino acids; 198539 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Monomer
Subcellular location: Secreted (By similarity)
Sequence caution: Sequence=AAL17779.1; Type=Erroneous initiation; Sequence=AAL17780.1; Type=Erroneous initiation;
Sequence=CAC11134.1; Type=Erroneous initiation;
Secondary accessions: A9Z1Y8 Q96PH7 Q96PH8 Q9H4C9
Alternative splicing: 2 isoforms:  Q9BXP8-1   Q9BXP8-2   

Explore the universe of human proteins at neXtProt for PAPPA2: NX_Q9BXP8

Explore proteomics data for PAPPA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXP8

  • PAPPA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PAPPA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_064714.2  NP_068755.2  

    ENSEMBL proteins: 
     ENSP00000356634   ENSP00000356633  
    Reactome Protein details: Q9BXP8
    Human Recombinant Protein Products for PAPPA2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals PAPPA2 Protein
    Sino Biological Recombinant Protein for PAPPA2
    Sino Biological Cell Lysate for PAPPA2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAPPA2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005622intracellular NAS11264294
    GO:0016020membrane IEA--

    PAPPA2 for ontologies           About GeneDecksing



    PAPPA2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PAPPA2 

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    Cloud-Clone Corp. CLIAs for PAPPA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR011936 Myxo_disulph_rpt
     IPR003961 Fibronectin_type3
     IPR013320 ConA-like_subgrp
     IPR000436 Sushi_SCR_CCP
     IPR008754 Peptidase_M43

    Graphical View of Domain Structure for InterPro Entry Q9BXP8

    ProtoNet protein and cluster: Q9BXP8

    2 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB002052 N-6 Adenine-specific DNA methylase


    UniProtKB/Swiss-Prot: PAPP2_HUMAN, Q9BXP8
    Similarity: Belongs to the peptidase M43B family
    Similarity: Contains 5 Sushi (CCP/SCR) domains


    PAPPA2 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: PAPP2_HUMAN, Q9BXP8
    Function: Metalloproteinase which specifically cleaves IGFBP-5. Shows limited proteolysis toward IGFBP-3
    Catalytic activity: Cleavage of the 143-Ser- -Lys-144 bond in insulin-like growth factor binding protein (IGFBP)-5

         Enzyme Number (IUBMB): EC 3.4.24.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008237metallopeptidase activity IDA11264294
    GO:0008270zinc ion binding NAS11264294
         
    PAPPA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PAPPA2:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pappa2):
     cardiovascular system  craniofacial  growth/size  hematopoietic system  immune system 
     limbs/digits/tail  liver/biliary system  nervous system  reproductive system  skeleton 

    PAPPA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAPPA2: Pappa2tm1.1Jkcs Pappa2tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PAPPA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PAPPA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAPPA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAPPA2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPPA2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PAPPA2:
    hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidPAPPA2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PAPPA2 (NM_021936)
    Sino Biological Human cDNA Clone for PAPPA2
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    Search LifeMap BioReagents cell lines for PAPPA2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPPA2


    (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 PAPPA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    2Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for PAPPA2
        Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Metabolism of proteins



    PAPPA2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PAPPA2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for PAPPA2 (Q9BXP82, 3 ENSP000003566344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3, ENSP000002611684MINT-61886 I2D: score=3 STRING: ENSP00000261168
    ZNF512BQ96KM62, 3MINT-60821 MINT-60813 I2D: score=3 
    SMAD4Q134852, 3, ENSP000003415514MINT-61944 I2D: score=3 STRING: ENSP00000341551
    IGFBP5P245933, ENSP000002338134I2D: score=1 STRING: ENSP00000233813
    IGFBP3P179363, ENSP000003704734I2D: score=2 STRING: ENSP00000370473
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS11264294
    GO:0006508proteolysis IDA11264294
    GO:0030154cell differentiation IEA--
    GO:0044267cellular protein metabolic process TAS--

    PAPPA2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PAPPA2 (PAPP2)

    Search CenterWatch for drugs/clinical trials and news about PAPPA2 / PAPP2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 PAPPA2 gene (2 alternative transcripts): 
    NM_020318.2  NM_021936.2  

    Unigene Cluster for PAPPA2:

    Pappalysin 2
    Hs.187284  [show with all ESTs]
    Unigene Representative Sequence: BC152552
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367662(uc001gkz.3 uc009www.3) ENST00000367661(uc001gky.1)
    ENST00000493665 ENST00000486075 ENST00000479836
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPPA2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PAPPA2:
    hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidPAPPA2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): PAPPA2 (NM_021936)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAPPA2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PAPPA2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PAPPA2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAPPA2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAPPA2

    Additional mRNA sequence: 

    AB209369.1 AF311940.1 AF342989.1 AF342990.1 AJ278348.1 AK096718.1 BC062665.1 BC104644.1 
    BC117193.1 BC117195.1 BC152552.1 BX649062.1 

    9 DOTS entries:

    DT.317112  DT.100783980  DT.86854281  DT.99979105  DT.91759944  DT.92420323  DT.95128620  DT.91741120 
    DT.95369620 

    24/233 AceView cDNA sequences (see all 233):

    AA047826 CF527876 BF990233 AA046769 N41334 BF987746 AI492466 CF528120 
    BF589540 AF311940 AI129688 BC062665 AI189289 AI088411 BF995327 BQ021951 
    AI052258 BE501917 AA059406 AF342989 AA233323 CR590333 AI580767 BM723192 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PAPPA2    About this scheme

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


    ECgene alternative splicing isoforms for PAPPA2

    (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

    PAPPA2 expression in normal human tissues (normalized intensities)      PAPPA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PAPPA2 Expression
    About this image


    PAPPA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 3 entries
             placenta ; decidual cells   
             placenta   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Brain (Nervous System)    fully expand to see all 2 entries
             ganglion/cranial/trigeminal V   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Uterus (Reproductive System)
             Uterus Corpus   

    See PAPPA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAPPA2

    SOURCE GeneReport for Unigene cluster: Hs.187284

    UniProtKB/Swiss-Prot: PAPP2_HUMAN, Q9BXP8
    Tissue specificity: Expressed abundantly in placenta, and non-pregnant mammary gland with low expression in the
    kidney, fetal brain and pancreas

        SABiosciences Custom PCR Arrays for PAPPA2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAPPA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPPA2

    (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 PAPPA2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pappa21 , 5 pappalysin 21, 5 82.39(n)1
    79.35(a)1
      1 (68.49 cM)5
    238501  NM_001085376.21  NP_001078845.11 
     1587117275 
    chicken
    (Gallus gallus)
    Aves PAPPA21 pappalysin 2 69.46(n)
    67.64(a)
      429071  XM_426627.3  XP_426627.3 
    lizard
    (Anolis carolinensis)
    Reptilia PAPPA26
    Uncharacterized protein
    65(a)
    1 ↔ 1
    4(72806606-72949287)
    zebrafish
    (Danio rerio)
    Actinopterygii pappa21 pappalysin 2 57.48(n)
    51.85(a)
      567038  XM_690325.3  XP_695417.3 


    ENSEMBL Gene Tree for PAPPA2 (if available)
    TreeFam Gene Tree for PAPPA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAPPA2 gene
    PAPPA2  
    1 SIMAP similar gene for PAPPA2 using alignment to 1 protein entry:     PAPP2_HUMAN:
    PAPPA

    PAPPA2 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

    10/6751 SNPs in PAPPA2 are shown (see all 6751)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1388298091,2
    C--147732552(+) ATGGA-/GTGTGTG 2 -- int10--------
    rs576023441,2
    C--147732589(+) TGTGT-/GTGTGT
    /GTGTGTGT
    ATGTA
    4 -- int1 cds11NA 2
    rs353946391,2
    C--147760637(+) TGCAC-/AATGAG 2 -- int11Minor allele frequency- A:0.00NA 2
    rs341541041,2
    C--147815351(+) ATAAT-/AAAACA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs121199091,2
    C,A--147862088(+) GTGTGA/TGAGAG 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs557420861,2
    C--147862088(+) GTGTG-/GAG   
      AGA
    /TG
    AGAGA
    4 -- int1 cds10--------
    rs1399677431,2
    C--147903988(+) CATGT-/AGAGAG/
    AGAGAGAGAG
    AGAGA
    2 -- int1 cds10--------
    rs342214241,2
    C--147917875(+) TTTTTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs347652291,2
    C--147929848(+) ACACA-/AC/CA 
            
    AACTC
    1 -- int11CSA 2
    rs718791931,2
    C--147992093(+) TTCTT-/TTTC  
            
    TTCTT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for PAPPA2 (176432307 - 176682307 bp, first 250kb of PAPPA2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for PAPPA2 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2719795CNV Deletion23290073
    esv1596288CNV Deletion17803354
    esv992315CNV Deletion20482838
    esv1170602CNV Deletion17803354
    esv2669646CNV Deletion23128226
    esv2467680CNV Deletion19546169
    esv2669673CNV Deletion23128226
    esv2094934CNV Deletion18987734
    esv1005770CNV Deletion20482838
    nsv3666CNV Loss18451855

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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
    5 diseases for PAPPA2:    About MalaCards
    developmental dysplasia of hip    hellp syndrome    down syndrome    eclampsia
    pre-eclampsia

    1 disease from the University of Copenhagen DISEASES database for PAPPA2:
    pre-eclampsia

    PAPPA2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for PAPPA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trisomy 48.8 2 11018262 (1), 11597188 (1)
    down syndrome 40.8 2 11018262 (1), 11597188 (1)

    Genetic Association Database (GAD): PAPPA2
    Human Genome Epidemiology (HuGE) Navigator: PAPPA2 (3 documents)

    Export disorders for PAPPA2 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 PAPPA2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with PAPPA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin- like growth factor-binding protein-5 proteinase. (PubMed id 11264294)1, 2, 3, 9 Overgaard M.T.... Oxvig C. (2001)
    2. Pregnancy-associated plasma protein-E (PAPP-E). (PubMed id 11018262)1, 2, 3, 9 Farr M....Tschesche H. (2000)
    3. The characterization of pregnancy associated plasma protein-E and the identification of an alternative splice variant. (PubMed id 11597188)1, 2, 9 Page N.M.... Lowry P.J. (2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Severe preeclampsia-related changes in gene expression at the maternal-fetal interface include sialic acid-binding immunoglobulin-like lectin-6 and pappalysin-2. (PubMed id 18818296)1, 9 Winn V.D....Fisher S.J. (2009)
    8. Seven placental transcripts characterize HELLP-syndrome. (PubMed id 18374411)1, 9 Buimer M....Ris-Stalpers C. (2008)
    9. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. (PubMed id 23509962)1 Greliche N....Tregouet D.A. (2013)
    10. Association of a single nucleotide polymorphism in pre gnancy-associated plasma protein-A2 with developmental dysplasia of the hip: a c ase-control study. (PubMed id 22037112)1 Jia J....Shi L. (2012)

    (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: 60676 HGNC: 14615 AceView: PAPPA2 Ensembl:ENSG00000116183 euGenes: HUgn60676
    ECgene: PAPPA2 H-InvDB: PAPPA2

    (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 PAPPA2 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 PAPPA2 gene:
    Search GeneIP for patents involving PAPPA2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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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