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Gene : ADAMTS2 Homo sapiens

Name  ? ADAM metallopeptidase with thrombospondin type 1 motif 2 Cytological Location  5q35.3
Brief Description  ADAM metallopeptidase with thrombospondin type 1 motif 2
Description  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]
  • synonyms:
  • procollagen N-endopeptidase,
  • ADAM-TS2,
  • ADAMTS2,
  • NM_014244,
  • PCPNI,
  • ADAMTS-3,
  • PCINP,
  • ADAM-TS2,
  • NPI,
  • hPCPNI,
  • PCI-NP,
  • AJ003125,
  • ADAMTS-2,
  • OTTHUMG00000130915,
  • procollagen I N-proteinase,
  • HGNC:218,
  • ADAMTS-3,
  • PCINP,
  • PNPI,
  • uc003mjw.3,
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2,
  • PC I-NP,
  • NPI
  • identifiers:
  • 9509,
  • ENSG00000087116,

Genome feature

Region: gene ? Length: 234609  
Location: 5:179110853-179345461 reverse strand Cyto location: 5q35.3

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1 Diseases

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445 SNPs

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results