ADAMTS2, 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