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    PAPPA2 pappalysin 2 [ Homo sapiens (human) ]

    Gene ID: 60676, updated on 9-Dec-2024

    Summary

    Official Symbol
    PAPPA2provided by HGNC
    Official Full Name
    pappalysin 2provided by HGNC
    Primary source
    HGNC:HGNC:14615
    See related
    Ensembl:ENSG00000116183 MIM:619485; AllianceGenome:HGNC:14615
    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
    SSDA; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAPPA2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (176463175..176845601)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (175818447..176200273)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (176432311..176814737)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger AN1-type containing 1 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:176282688-176283193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1571 Neighboring gene mortality factor 4 like 1 pseudogene 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:176525984-176527183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1572 Neighboring gene PTP4A1 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:176694898-176695118 Neighboring gene NANOG hESC enhancer GRCh37_chr1:176702698-176703199 Neighboring gene MPRA-validated peak474 silencer Neighboring gene GATA motif-containing MPRA enhancer 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:176873029-176873530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:176873531-176874030 Neighboring gene astrotactin 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177013479-177014043 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177017656-177018356 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:177029877-177031076 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177034489-177035123 Neighboring gene microRNA 488 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:177139732-177140321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:177140322-177140910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:177150672-177151233 Neighboring gene uncharacterized LOC105371625 Neighboring gene BMP/retinoic acid inducible neural specific 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:177224616-177225815

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Short stature, Dauber-Argente type
    MedGen: C5561968 OMIM: 619489 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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_023390.2 RefSeqGene

      Range
      5002..387428
      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
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      176463175..176845601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427180.1XP_047283136.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    2. XM_017002024.2XP_016857513.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
      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_017002023.2XP_016857512.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
      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_011509857.1XP_011508159.1  pappalysin-2 isoform X1

      See identical proteins and their annotated locations for XP_011508159.1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
      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_005245422.4XP_005245479.1  pappalysin-2 isoform X1

      See identical proteins and their annotated locations for XP_005245479.1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      175818447..176200273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338079.1XP_054194054.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    2. XM_054338081.1XP_054194056.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    3. XM_054338082.1XP_054194057.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    4. XM_054338080.1XP_054194055.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    5. XM_054338083.1XP_054194058.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    6. XM_054338085.1XP_054194060.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9
    7. XM_054338084.1XP_054194059.1  pappalysin-2 isoform X1

      UniProtKB/Swiss-Prot
      A9Z1Y8, Q96PH7, Q96PH8, Q9BXP8, Q9H4C9