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    PAPPA2 pappalysin 2 [ Homo sapiens (human) ]

    Gene ID: 60676, updated on 17-Jun-2019

    Summary

    Official Symbol
    PAPPA2provided by HGNC
    Official Full Name
    pappalysin 2provided by HGNC
    Primary source
    HGNC:HGNC:14615
    See related
    Ensembl:ENSG00000116183
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAPPE; PLAC3; PAPP-E; PAPP-A2
    Summary
    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]
    Expression
    Biased expression in placenta (RPKM 23.7), kidney (RPKM 2.2) and 1 other tissue See more
    Orthologs

    Genomic context

    See PAPPA2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (176463159..176845601)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (176432307..176814737)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger AN1-type containing 1 pseudogene Neighboring gene mortality factor 4 like 1 pseudogene 7 Neighboring gene PTP4A1 pseudogene 7 Neighboring gene GATA motif-containing MPRA enhancer 65 Neighboring gene astrotactin 1 Neighboring gene microRNA 488

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    NHGRI GWA Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pappalysin-2
    Names
    placenta-specific 3
    pregnancy-associated plasma preproprotein-A2
    pregnancy-associated plasma protein E1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023390.1 RefSeqGene

      Range
      5001..384666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020318.3NP_064714.2  pappalysin-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_064714.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF311940, AF342989, AL031290, BC062665
      Consensus CDS
      CCDS41438.1
      UniProtKB/Swiss-Prot
      Q9BXP8
      Related
      ENSP00000356634.3, ENST00000367662.5
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    2. NM_021936.3NP_068755.2  pappalysin-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_068755.2

      Status: REVIEWED

      Description
      Transcript Variant: # This Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL139282, AL596254, BC062665, BC117195
      Consensus CDS
      CCDS41439.1
      UniProtKB/Swiss-Prot
      Q9BXP8
      Related
      ENSP00000356633.3, ENST00000367661.7
      Conserved Domains (3) summary
      smart00004
      Location:585612
      NL; Domain found in Notch and Lin-12
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl00064
      Location:634811
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      176463159..176845601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002024.1XP_016857513.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    2. XM_017002023.1XP_016857512.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    3. XM_011509857.1XP_011508159.1  pappalysin-2 isoform X1

      See identical proteins and their annotated locations for XP_011508159.1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    4. XM_005245422.3XP_005245479.1  pappalysin-2 isoform X1

      See identical proteins and their annotated locations for XP_005245479.1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    5. XM_011509858.2XP_011508160.1  pappalysin-2 isoform X1

      See identical proteins and their annotated locations for XP_011508160.1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain
    6. XM_017002025.2XP_016857514.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q9BXP8
      Conserved Domains (7) summary
      cd00033
      Location:15251591
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00004
      Location:17221758
      NL; Domain found in Notch and Lin-12
      TIGR02232
      Location:11121151
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      cd04275
      Location:634831
      ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
      pfam00084
      Location:14671521
      Sushi; Sushi repeat (SCR repeat)
      pfam13385
      Location:282433
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl02419
      Location:585612
      Notch; LNR domain

    RNA

    1. XR_921907.2 RNA Sequence

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