ADAMTS4
ADAM metallopeptidase with thrombospondin type 1 motif 4
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this 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 lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11583589 | 1:161,159,158 | G/A | — | — |
| rs34884997 | 1:161,160,872 | C/T | — | benign |
| rs114600134 | 1:161,160,941 | G/C | — | uncertain significance |
| rs546046388 | 1:161,160,950 | C/A | — | uncertain significance |
| rs146525824 | 1:161,160,951 | G/A | — | uncertain significance |
| rs114728887 | 1:161,160,954 | G/A | — | uncertain significance |
| rs767338527 | 1:161,160,989 | A/G | — | uncertain significance |
| rs2525617965 | 1:161,161,002 | G/A | — | uncertain significance |
| rs115479312 | 1:161,161,038 | C/T | — | uncertain significance |
| rs745735551 | 1:161,161,086 | G/C | — | uncertain significance |
| rs182544563 | 1:161,161,164 | G/A | — | uncertain significance |
| rs145548254 | 1:161,161,170 | T/C | — | uncertain significance |
| rs200762082 | 1:161,161,274 | C/T | — | uncertain significance |
| rs200203360 | 1:161,161,275 | G/A | — | uncertain significance |
| rs764646196 | 1:161,161,286 | T/C | — | uncertain significance |
| rs945138842 | 1:161,161,291 | C/A | — | uncertain significance |
| rs771753545 | 1:161,161,949 | T/C | — | likely benign |
| rs751618429 | 1:161,161,951 | C/T | — | uncertain significance |
| rs143851585 | 1:161,163,004 | C/T | — | uncertain significance |
| rs4233367 | 1:161,163,037 | T/G | missense variant | — |
| rs1664724821 | 1:161,163,083 | T/G | — | uncertain significance |
| rs148961956 | 1:161,163,088 | C/T | — | uncertain significance |
| rs746213424 | 1:161,163,164 | C/T | — | uncertain significance |
| rs149280873 | 1:161,163,456 | T/C | — | uncertain significance |
| rs142207487 | 1:161,163,477 | C/T | — | uncertain significance |
| rs35674362 | 1:161,163,481 | G/A | — | uncertain significance |
| rs772202883 | 1:161,163,549 | C/T | — | uncertain significance |
| rs141276844 | 1:161,163,754 | G/A | — | uncertain significance |
| rs915986693 | 1:161,163,769 | T/C | — | uncertain significance |
| rs370694866 | 1:161,163,781 | C/T | — | uncertain significance |
| rs767364588 | 1:161,163,913 | C/T | — | uncertain significance |
| rs148469372 | 1:161,163,933 | C/A | — | uncertain significance |
| rs142805458 | 1:161,165,263 | T/C | — | uncertain significance |
| rs115215539 | 1:161,165,288 | G/A | — | uncertain significance |
| rs371451268 | 1:161,165,299 | G/A | — | uncertain significance |
| rs2525630848 | 1:161,165,323 | A/C | — | uncertain significance |
| rs146858388 | 1:161,165,353 | C/T | — | uncertain significance |
| rs137881629 | 1:161,166,029 | G/A | — | uncertain significance |
| rs115365549 | 1:161,166,382 | C/G | — | uncertain significance |
| rs2525637136 | 1:161,166,400 | G/A | — | uncertain significance |
| rs201261893 | 1:161,166,435 | C/T | — | uncertain significance |
| rs992660039 | 1:161,166,447 | G/A | — | uncertain significance |
| rs1421370467 | 1:161,166,544 | T/C | — | uncertain significance |
| rs143740950 | 1:161,166,586 | G/A | — | uncertain significance |
| rs749038765 | 1:161,166,597 | G/A | — | uncertain significance |
| rs1343826431 | 1:161,166,670 | G/A | — | uncertain significance |
| rs2525643980 | 1:161,167,793 | T/C | — | uncertain significance |
| rs761754528 | 1:161,167,870 | C/T | — | uncertain significance |
| rs147572611 | 1:161,167,873 | C/T | — | uncertain significance |
| rs1476816956 | 1:161,167,891 | G/C | — | uncertain significance |
| rs1000852820 | 1:161,168,042 | T/C | — | uncertain significance |
| rs780073534 | 1:161,168,117 | C/T | — | uncertain significance |
| rs113202559 | 1:161,168,120 | A/G | — | likely benign |
| rs200875213 | 1:161,168,146 | G/A | — | uncertain significance |
| rs150301048 | 1:161,168,167 | C/T | — | uncertain significance |
| rs148118422 | 1:161,168,191 | C/T | — | uncertain significance |
| rs748250685 | 1:161,168,197 | C/T | — | uncertain significance |
| rs1403327956 | 1:161,168,213 | C/T | — | uncertain significance |
| rs1343794855 | 1:161,168,234 | C/T | — | uncertain significance |
| rs1571591326 | 1:161,168,375 | G/A | — | likely benign |
| rs1207368696 | 1:161,168,377 | C/T | — | uncertain significance |
| rs370465021 | 1:161,168,393 | C/T | — | likely benign |
| rs561757420 | 1:161,168,398 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.