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PAPPA2 pappalysin 2 [ Homo sapiens (human) ]

Gene ID: 60676, updated on 1-Jun-2020

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
109.20200522 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 Functions

What'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

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 Updated 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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