ADAMTS2

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]

Description

ADAM metallopeptidase with thrombospondin type 1 motif 2

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Plasma membrane

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

5 (179110853 - 179345461)

Ensembl ID

ENSG00000087116  (ver. 103.38)

Orthologs

Mouse Adamts2: ENSMUSG00000036545

UniProt

O95450

neXtProt

NX_O95450

Human splice variants
Mouse splice variants

Protein structure