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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ADAMTSL2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9719
Official gene symbolADAMTSL2
Full nameADAMTS-like 2
Aliases,FLJ45164,KIAA0605,
Gene summaryThis gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq]
LocationChromosome: 9   Locus: 9q34.2
Gene position136397286 - 136440641  Map Viewer
Gene orientationplus
Gene size43356 bp
Gene sequence
OMIM ID612277