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

Gene ID: 9509, updated on 5-Aug-2018

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; Vega:OTTHUMG00000130915
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

Genomic context

See ADAMTS2 in Genome Data Viewer
Location:
5q35.3
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (179110851..179345430, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178537852..178772431, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 879 Neighboring gene zinc finger protein 354C 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ehlers-Danlos syndrome, type vii, autosomal recessive
MedGen: C2700425 OMIM: 225410 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
NHGRI GWA Catalog

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

Pathways from BioSystems

  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

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
metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
collagen catabolic process IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
protein processing IEA
Inferred from Electronic Annotation
more info
 
skin development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
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)

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_023212.2 RefSeqGene

    Range
    4899..239478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014244.4NP_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, AJ003125, CA445758, DA928965
    Consensus CDS
    CCDS4444.1
    UniProtKB/Swiss-Prot
    O95450
    Related
    ENSP00000251582.7, OTTHUMP00000161523, ENST00000251582.11, OTTHUMT00000253507
    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_021599.3NP_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, OTTHUMP00000224422, ENST00000274609.5, OTTHUMT00000374453
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    179110851..179345430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107298.1 Reference GRCh38.p12 PATCHES

    Range
    20229..110137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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