Gene

ADAMTS2

Species
Homo sapiens
Symbol
ADAMTS2
Name
ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms
  • A disintegrin and metalloproteinase with thrombospondin motifs 2
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
Biotype
protein coding gene
Automated Description
Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within several processes, including collagen fibril organization; protein processing; and spermatogenesis. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome dermatosparaxis type.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13723
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
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179.12M179.14M179.16M179.18M179.20M179.22M179.24M179.26M179.28M179.30M179.32M179.34M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions