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    ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 [ Homo sapiens (human) ]

    Gene ID: 9509, updated on 8-Jul-2021

    Summary

    Official Symbol
    ADAMTS2provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 2provided by HGNC
    Primary source
    HGNC:HGNC:218
    See related
    Ensembl:ENSG00000087116 MIM:604539
    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
    NPI; PNPI; PCINP; PCPNI; PCI-NP; PC I-NP; ADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in endometrium (RPKM 11.5), placenta (RPKM 8.1) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ADAMTS2 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (179110853..179345461, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178537854..178772462, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 879 Neighboring gene zinc finger protein 354C Neighboring gene Sharpr-MPRA regulatory region 9172 Neighboring gene uncharacterized LOC105377759 Neighboring gene uncharacterized LOC107986494

    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
    A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
    GeneReviews: Not available
    Ehlers-Danlos syndrome dermatosparaxis type
    MedGen: C2700425 OMIM: 225410 GeneReviews: Not available
    Compare labs
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    GeneReviews: Not available
    Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of ADAM metallopeptidase with thrombospondin type 1 motif-2 (ADAMTS2) expression as compared to untreated control PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686F12218

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in collagen catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 2
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
    procollagen I N-proteinase
    procollagen I/II amino propeptide-processing enzyme
    procollagen N-endopeptidase
    NP_055059.2
    NP_067610.1

    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_023212.3 RefSeqGene

      Range
      4868..239476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014244.5NP_055059.2  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_055059.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008544, AC010216, AC109479, AJ003125, CA445758, DA928965
      Consensus CDS
      CCDS4444.1
      UniProtKB/Swiss-Prot
      O95450
      Related
      ENSP00000251582.7, ENST00000251582.12
      Conserved Domains (5) summary
      smart00209
      Location:564616
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:266467
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:268470
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:100211
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:723837
      ADAM_spacer1; ADAM-TS Spacer 1
    2. NM_021599.4NP_067610.1  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_067610.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate exon in the 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1. Isoform 2 lacks the TSP type-1 domains compared to isoform 1 but may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC010216, AC109479, AK308213, BM512469
      Consensus CDS
      CCDS34311.1
      UniProtKB/Swiss-Prot
      O95450
      Related
      ENSP00000274609.5, ENST00000274609.5
      Conserved Domains (3) summary
      cd04273
      Location:266467
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:268470
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:100211
      Pep_M12B_propep; Reprolysin family propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      179110853..179345461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_016107298.1 Reference GRCh38.p13 PATCHES

      Range
      20229..110168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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