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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ADAMTS2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9509
Official gene symbolADAMTS2
Full nameADAM metallopeptidase with thrombospondin type 1 motif, 2
Aliases,ADAM-TS2,ADAMTS-3,NPI,PCINP,PCPNI,hPCPNI,
Gene summaryThis 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 enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq]
LocationChromosome: 5   Locus: 5qter
Gene position178772431 - 178537852  Map Viewer
Gene orientationminus
Gene size234580 bp
Gene sequence
OMIM ID604539