ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
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]
Known Variants1,434 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1044209 | 5:178,537,916 | A/T | — | benign |
| rs1044205 | 5:178,537,917 | C/T | — | benign |
| rs60250623 | 5:178,537,950 | C/T | — | benign |
| rs11740156 | 5:178,538,014 | A/G | — | likely benign |
| rs565652629 | 5:178,538,015 | C/T | — | uncertain significance |
| rs1008909674 | 5:178,538,028 | A/C | — | uncertain significance |
| rs1381911253 | 5:178,538,048 | G/T | — | uncertain significance |
| rs886060481 | 5:178,538,144 | T/C | — | uncertain significance |
| rs371733200 | 5:178,538,270 | T/C | — | uncertain significance |
| rs188054405 | 5:178,538,273 | G/A | — | uncertain significance |
| rs886060482 | 5:178,538,279 | A/C | — | uncertain significance |
| rs140304884 | 5:178,538,281 | A/G | — | likely benign |
| rs1265598763 | 5:178,538,357 | G/T | — | uncertain significance |
| rs546192004 | 5:178,538,428 | C/T | — | uncertain significance |
| rs78886769 | 5:178,538,429 | A/G | — | benign |
| rs376369089 | 5:178,538,448 | T/C | — | likely benign |
| rs117141618 | 5:178,538,471 | C/T | — | likely benign |
| rs3797615 | 5:178,538,472 | G/A | — | benign |
| rs564480935 | 5:178,538,566 | G/A | — | uncertain significance |
| rs115104288 | 5:178,538,567 | G/A | — | benign |
| rs886060483 | 5:178,538,598 | G/A | — | uncertain significance |
| rs147985762 | 5:178,538,672 | A/T | — | likely benign |
| rs961432521 | 5:178,538,688 | G/T | — | uncertain significance |
| rs1762570717 | 5:178,538,699 | C/T | — | uncertain significance |
| rs886060484 | 5:178,538,721 | G/A | — | uncertain significance |
| rs77882118 | 5:178,538,727 | C/A | — | likely benign |
| rs759155545 | 5:178,538,804 | T/C | — | uncertain significance |
| rs1022911243 | 5:178,538,833 | C/T | — | uncertain significance |
| rs886060485 | 5:178,538,927 | G/A | — | uncertain significance |
| rs574968586 | 5:178,538,949 | A/C | — | uncertain significance |
| rs1003207022 | 5:178,539,031 | A/C | — | uncertain significance |
| rs115989271 | 5:178,539,049 | C/T | — | benign |
| rs553329835 | 5:178,539,071 | G/A | — | likely benign |
| rs1351159498 | 5:178,539,091 | A/G | — | uncertain significance |
| rs886060486 | 5:178,539,121 | T/G | — | uncertain significance |
| rs56153390 | 5:178,539,149 | A/G | — | benign |
| rs138971097 | 5:178,539,229 | G/A | — | likely benign |
| rs533044375 | 5:178,539,279 | A/G | — | uncertain significance |
| rs888760 | 5:178,539,282 | T/C | — | benign |
| rs560216364 | 5:178,539,295 | T/G | — | likely benign |
| rs1863918 | 5:178,539,382 | G/T | — | benign |
| rs2059776 | 5:178,539,400 | T/C | — | benign |
| rs1222087934 | 5:178,539,457 | C/T | — | uncertain significance |
| rs142875628 | 5:178,539,507 | T/C | — | uncertain significance |
| rs77506744 | 5:178,539,621 | G/A | — | benign |
| rs1011844643 | 5:178,539,791 | T/C | — | uncertain significance |
| rs187198149 | 5:178,539,883 | G/A | — | uncertain significance |
| rs138084603 | 5:178,539,891 | C/T | — | likely benign |
| rs17666900 | 5:178,540,015 | C/A | — | benign |
| rs78622875 | 5:178,540,021 | A/G | — | benign |
| rs778909760 | 5:178,540,025 | C/T | — | uncertain significance |
| rs10038484 | 5:178,540,026 | A/G | — | benign |
| rs1762596121 | 5:178,540,033 | G/A | — | uncertain significance |
| rs116130524 | 5:178,540,052 | A/G | — | likely benign |
| rs577299266 | 5:178,540,055 | C/G | — | uncertain significance |
| rs149592164 | 5:178,540,161 | T/C | — | uncertain significance |
| rs1762599095 | 5:178,540,253 | A/G | — | uncertain significance |
| rs753995152 | 5:178,540,318 | C/T | — | uncertain significance |
| rs73806885 | 5:178,540,334 | C/T | — | benign |
| rs565021011 | 5:178,540,344 | C/T | — | uncertain significance |
| rs1762600191 | 5:178,540,350 | C/A | — | uncertain significance |
| rs73806886 | 5:178,540,423 | C/T | — | benign |
| rs886060487 | 5:178,540,515 | G/A | — | uncertain significance |
| rs59090242 | 5:178,540,580 | C/T | — | benign |
| rs886060488 | 5:178,540,646 | G/A | — | uncertain significance |
| rs10479525 | 5:178,540,656 | T/G | — | benign |
| rs184732586 | 5:178,540,685 | A/G | — | uncertain significance |
| rs886060489 | 5:178,540,687 | G/A | — | uncertain significance |
| rs1057408727 | 5:178,540,694 | C/T | — | uncertain significance |
| rs1290092850 | 5:178,540,877 | T/C | — | likely benign |
| rs769813298 | 5:178,540,879 | C/T | — | uncertain significance |
| rs139420412 | 5:178,540,880 | G/A | — | likely benign |
| rs1762614350 | 5:178,540,889 | T/C | — | likely benign |
| rs745724759 | 5:178,540,895 | C/T | — | likely benign |
| rs772059202 | 5:178,540,896 | C/T | — | uncertain significance |
| rs144078893 | 5:178,540,897 | G/A | — | conflicting classifications of pathogenicity |
| rs1278681689 | 5:178,540,898 | C/T | — | uncertain significance |
| rs746555448 | 5:178,540,900 | T/A | — | uncertain significance |
| rs1762614743 | 5:178,540,901 | C/A | — | uncertain significance |
| rs1245816073 | 5:178,540,907 | A/G | — | likely benign |
| rs2480126341 | 5:178,540,910 | G/A | — | likely benign |
| rs1484973374 | 5:178,540,912 | G/A | — | uncertain significance |
| rs2480126460 | 5:178,540,913 | C/T | — | likely benign |
| rs1561761828 | 5:178,540,914 | T/C | — | uncertain significance |
| rs1762615550 | 5:178,540,918 | G/A | — | uncertain significance |
| rs766920413 | 5:178,540,928 | G/A | — | likely benign |
| rs2113160848 | 5:178,540,929 | T/C | — | uncertain significance |
| rs540177122 | 5:178,540,931 | T/C | — | likely benign |
| rs1394303348 | 5:178,540,937 | C/T | — | likely benign |
| rs752679558 | 5:178,540,943 | A/G | — | likely benign |
| rs185794582 | 5:178,540,952 | C/T | — | likely benign |
| rs150989902 | 5:178,540,953 | G/A | — | conflicting classifications of pathogenicity |
| rs374889359 | 5:178,540,956 | C/T | — | uncertain significance |
| rs781618824 | 5:178,540,957 | G/A | — | uncertain significance |
| rs140845527 | 5:178,540,959 | C/T | — | uncertain significance |
| rs367553801 | 5:178,540,960 | G/A | — | conflicting classifications of pathogenicity |
| rs2480126694 | 5:178,540,961 | A/G | — | likely benign |
| rs941513565 | 5:178,540,967 | T/C | — | likely benign |
| rs532207723 | 5:178,540,974 | G/A | — | uncertain significance |
| rs1054480 | 5:178,540,975 | G/A | missense variant | benign |
Showing 100 of 1,434 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.