Entrez Gene ID | 11096 |
---|---|
Official Gene Symbol | ADAMTS5 (GeneCards) |
Full name | ADAM metallopeptidase with thrombospondin type 1 motif 5 |
Location | 21q21.3 |
Other ids | Vega : OTTHUMG00000078686 MIM : 605007 HGNC : HGNC:221 Ensembl : ENSG00000154736 |
Other names | ADMP-2, ADAM-TS5, ADAMTS-5, ADAMTS11, ADAM-TS5, ADAMTS-11, ADAM-TS11 |
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 enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016] |
Found 11 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
21646 | 11096 | ADAMTS5 | 21 | 28344261 | 28344261 | Asymptomatic | HiSeq X Ten |
21678 | 11096 | ADAMTS5 | 21 | 28342793 | 28342793 | Asymptomatic | HiSeq X Ten |
21682 | 11096 | ADAMTS5 | 21 | 28531510 | 28531510 | Asymptomatic | HiSeq X Ten |
21701 | 11096 | ADAMTS5 | 21 | 28402850 | 28402850 | Asymptomatic | HiSeq X Ten |
21752 | 11096 | ADAMTS5 | 21 | 28354898 | 28354898 | Asymptomatic | HiSeq X Ten |
21759 | 11096 | ADAMTS5 | 21 | 28455800 | 28455800 | Asymptomatic | HiSeq X Ten |
21809 | 11096 | ADAMTS5 | 21 | 28626514 | 28626514 | Xeroderma Pigmentosum | HiSeq X Ten |
24077 | 11096 | ADAMTS5 | 21 | 28636420 | 28636420 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24102 | 11096 | ADAMTS5 | 21 | 28378173 | 28378173 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28692 | 11096 | ADAMTS5 | 21 | 28576166 | 28576166 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28698 | 11096 | ADAMTS5 | 21 | 28639664 | 28639664 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |