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

    Gene ID: 9509, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:218
    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
    mouse all
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    Genomic context

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    See ADAMTS2 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179110853..179345461, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179664045..179898855, complement)
    RS_2024_09 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 H3K27ac hESC enhancer GRCh37_chr5:178450433-178450934 Neighboring gene zinc finger protein 879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178487693-178488228 Neighboring gene zinc finger protein 354C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178594089-178594590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178608229-178608956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178611336-178611936 Neighboring gene uncharacterized LOC124900195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178619033-178619724 Neighboring gene Sharpr-MPRA regulatory region 9172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178636495-178636995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178644493-178645348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178660748-178661408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178661409-178662067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178691371-178692266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178692267-178693160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178728767-178729266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178747039-178747538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178759497-178760033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178762827-178763626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178763627-178764426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178764427-178765226 Neighboring gene uncharacterized LOC105377759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178795338-178796033 Neighboring gene uncharacterized LOC124901149 Neighboring gene uncharacterized LOC107986494

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC). Reardon W, et al. Clin Dysmorphol, 1995 Jan. PMID 7735500
    2. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Colige A, et al. Am J Hum Genet, 1999 Aug. PMID 10417273, Free PMC Article
    3. Human thrombospondin 2 inhibits proliferation of microvascular endothelial cells. Tomii Y, et al. Int J Oncol, 2002 Feb. PMID 11788898
    4. ADAMTS12, a new candidate gene for pediatric stroke. Witten A, et al. PLoS One, 2020. PMID 32817637, Free PMC Article
    5. Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series. Yue F, et al. Medicine (Baltimore), 2019 Dec. PMID 31804359, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.
      Title: Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.
    2. Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.
      Title: Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.
    3. Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.
      Title: Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.
    4. ADAMTS12, a new candidate gene for pediatric stroke.
      Title: ADAMTS12, a new candidate gene for pediatric stroke.
    5. Dopaminergic control of ADAMTS2 expression through cAMP/CREB and ERK: molecular effects of antipsychotics.
      Title: Dopaminergic control of ADAMTS2 expression through cAMP/CREB and ERK: molecular effects of antipsychotics.
    6. Our research revealed that partial microduplication of ADAMTS2 (chr5:178728830-178997692) might be benign and not correlate with disorders. And there might exist phenotypic diversities of 5q35.3 duplications.
      Title: Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series.
    7. ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of the uterosacral ligament play essential roles in the etiopathogenesis of pelvic organ prolapse among postmenopausal women without stress urinary incontinence.
      Title: The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence.
    8. We identified three novel homozygous loss-of-function mutations (c.2927_2928delCT, p.(Pro976Argfs*42); c.669_670dupG, p.(Pro224Argfs*24); and c.2751-2A>T) and one compound heterozygous mutation (c.2T>C, p.? and c.884_887delTGAA, p.(Met295Thrfs26*)) in ADAMTS2 in five patients from four unrelated families
      Title: Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
    9. Data indicate that ADAMTS2 and 3 cleave the amino-propeptide of fibrillar collagens and regulate blood vessels homeostasis and lymphangiogenesis. Also, ADAMTS2 deficiency leads to the dermatosparactic type of Ehlers-Danlos syndrome. [review]
      Title: The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology.
    10. IL-1a is a strong positive regulator of ADAMTS-2 and ADAMTS-3 expression.
      Title: Induction of human ADAMTS-2 gene expression by IL-1α is mediated by a multiple crosstalk of MEK/JNK and PI3K pathways in osteoblast like cells.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ehlers-Danlos syndrome, dermatosparaxis type
    MedGen: C2700425 OMIM: 225410 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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
    XP_047273851.1
    XP_047273852.1
    XP_054209801.1
    XP_054209802.1

    NCBI Reference Sequences (RefSeq)

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    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_014244.5 → NP_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
      UniProtKB/TrEMBL
      A0A1B0GTY3
      Related
      ENSP00000251582.7, ENST00000251582.12
      Conserved Domains (6) summary
      smart00209
      Location:564 → 616
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:266 → 467
      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 ...
      pfam05986
      Location:723 → 837
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam01562
      Location:91 → 212
      Pep_M12B_propep; Reprolysin family propeptide
      pfam17771
      Location:482 → 551
      ADAM_CR_2; ADAM cysteine-rich domain
      pfam19030
      Location:979 → 1028
      TSP1_ADAMTS; Thrombospondin type 1 domain

    2. NM_021599.4 → NP_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:266 → 467
      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:268 → 470
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:100 → 211
      Pep_M12B_propep; Reprolysin family propeptide

    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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047417895.1 → XP_047273851.1  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform X1

    2. XM_047417896.1 → XP_047273852.1  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107298.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      179664045..179898855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353826.1 → XP_054209801.1  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform X1

    2. XM_054353827.1 → XP_054209802.1  A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95450.2 GenPept UniProtKB/Swiss-Prot:O95450

    Gene LinkOut

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