ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
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]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2516593386 | 21:28,296,411 | C/A | — | uncertain significance |
| rs75336666 | 21:28,296,445 | C/T | — | uncertain significance |
| rs760152877 | 21:28,296,446 | G/A | — | uncertain significance |
| rs148266971 | 21:28,296,559 | T/A | — | uncertain significance |
| rs2516593850 | 21:28,296,622 | C/A | — | uncertain significance |
| rs748186564 | 21:28,296,694 | G/T | — | uncertain significance |
| rs1275168164 | 21:28,296,737 | C/T | — | uncertain significance |
| rs1247633036 | 21:28,296,775 | G/A | — | uncertain significance |
| rs1013960741 | 21:28,296,785 | T/G | — | uncertain significance |
| rs2516594393 | 21:28,296,866 | C/T | — | uncertain significance |
| rs893828310 | 21:28,296,883 | C/T | — | uncertain significance |
| rs752908271 | 21:28,302,226 | A/G | — | uncertain significance |
| rs1382422790 | 21:28,302,240 | G/C | — | uncertain significance |
| rs1986874557 | 21:28,302,254 | C/T | — | uncertain significance |
| rs2516599924 | 21:28,302,349 | C/T | — | uncertain significance |
| rs78795703 | 21:28,302,354 | C/T | — | benign |
| rs226794 | 21:28,302,355 | A/G | missense variant | benign |
| rs755775374 | 21:28,304,459 | C/T | — | uncertain significance |
| rs2516602342 | 21:28,304,468 | G/A | — | uncertain significance |
| rs755042708 | 21:28,304,487 | G/A | — | uncertain significance |
| rs2830585 | 21:28,305,212 | C/T | — | benign |
| rs2516603446 | 21:28,305,245 | C/A | — | uncertain significance |
| rs2516605575 | 21:28,306,843 | T/C | — | uncertain significance |
| rs770735293 | 21:28,306,853 | G/C | — | uncertain significance |
| rs747375312 | 21:28,306,855 | G/A | — | uncertain significance |
| rs1328848911 | 21:28,306,893 | C/G | — | uncertain significance |
| rs1286855183 | 21:28,306,901 | C/T | — | uncertain significance |
| rs2516605870 | 21:28,306,967 | G/A | — | uncertain significance |
| rs2516613543 | 21:28,315,746 | G/A | — | uncertain significance |
| rs199657361 | 21:28,315,863 | T/C | — | uncertain significance |
| rs162509 | 21:28,325,775 | C/A | — | — |
| rs1002294095 | 21:28,327,118 | T/C | — | uncertain significance |
| rs781342695 | 21:28,327,123 | T/G | — | uncertain significance |
| rs72635025 | 21:28,332,226 | A/G | intron variant | — |
| rs779897197 | 21:28,337,609 | C/T | — | uncertain significance |
| rs74822002 | 21:28,337,783 | G/A | — | benign |
| rs61750215 | 21:28,337,859 | G/A | — | likely benign |
| rs576660343 | 21:28,337,861 | C/T | — | uncertain significance |
| rs151274956 | 21:28,337,871 | C/A | — | benign |
| rs534929 | 21:28,337,894 | G/C | — | uncertain significance |
| rs780308075 | 21:28,337,905 | A/G | — | uncertain significance |
| rs115293689 | 21:28,337,981 | G/A | — | benign |
| rs368181942 | 21:28,338,031 | T/A | — | uncertain significance |
| rs1987637140 | 21:28,338,053 | C/T | — | uncertain significance |
| rs936172780 | 21:28,338,101 | G/A | — | uncertain significance |
| rs1356235663 | 21:28,338,127 | C/T | — | uncertain significance |
| rs1241172465 | 21:28,338,154 | G/C | — | uncertain significance |
| rs746050718 | 21:28,338,161 | C/T | — | uncertain significance |
| rs982775259 | 21:28,338,164 | C/A | — | uncertain significance |
| rs768563008 | 21:28,338,176 | C/T | — | uncertain significance |
| rs766001060 | 21:28,338,196 | G/A | — | uncertain significance |
| rs760878850 | 21:28,338,203 | G/C | — | uncertain significance |
| rs551411133 | 21:28,338,227 | G/T | — | uncertain significance |
| rs373263850 | 21:28,338,397 | T/A | — | uncertain significance |
| rs267606089 | 21:28,338,400 | C/T | — | uncertain significance |
| rs377518197 | 21:28,338,488 | G/C | — | uncertain significance |
| rs369093483 | 21:28,338,498 | C/A | — | uncertain significance |
| rs1372444856 | 21:28,338,517 | G/A | — | uncertain significance |
| rs145947382 | 21:28,338,524 | G/T | — | uncertain significance |
| rs138536779 | 21:28,338,526 | T/C | — | uncertain significance |
| rs779172994 | 21:28,338,531 | G/C | — | uncertain significance |
| rs1380084814 | 21:28,338,565 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.