ADAMTS8
ADAM metallopeptidase with thrombospondin type 1 motif 8
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 disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749046687 | 11:130,275,554 | C/G | — | uncertain significance |
| rs770666720 | 11:130,275,559 | C/T | — | uncertain significance |
| rs199626173 | 11:130,275,572 | C/T | — | uncertain significance |
| rs768909867 | 11:130,275,578 | C/T | — | uncertain significance |
| rs2541484167 | 11:130,275,600 | C/G | — | uncertain significance |
| rs373860109 | 11:130,275,724 | G/T | — | uncertain significance |
| rs374630396 | 11:130,275,785 | G/A | — | uncertain significance |
| rs760374808 | 11:130,275,799 | C/T | — | uncertain significance |
| rs1459266996 | 11:130,275,821 | C/T | — | uncertain significance |
| rs905909632 | 11:130,275,826 | T/C | — | uncertain significance |
| rs746014175 | 11:130,275,961 | C/T | — | uncertain significance |
| rs747292238 | 11:130,275,971 | C/T | — | uncertain significance |
| rs199760382 | 11:130,276,014 | G/T | — | uncertain significance |
| rs180732413 | 11:130,276,196 | A/C | intron variant | — |
| rs768027561 | 11:130,278,411 | C/T | — | uncertain significance |
| rs775536904 | 11:130,278,671 | C/T | — | uncertain significance |
| rs544040876 | 11:130,278,727 | C/T | — | uncertain significance |
| rs34821407 | 11:130,278,728 | G/A | — | uncertain significance |
| rs2541487680 | 11:130,278,749 | T/C | — | uncertain significance |
| rs61754851 | 11:130,278,773 | C/T | missense variant | — |
| rs7936928 | 11:130,279,168 | T/C | intron variant | — |
| rs375591213 | 11:130,281,411 | G/A | — | uncertain significance |
| rs2541490221 | 11:130,281,412 | G/T | — | uncertain significance |
| rs55796939 | 11:130,284,041 | C/A | — | — |
| rs1273789487 | 11:130,284,479 | G/A | — | uncertain significance |
| rs2541493311 | 11:130,284,481 | C/T | — | uncertain significance |
| rs780443214 | 11:130,284,488 | C/T | — | uncertain significance |
| rs538740660 | 11:130,284,493 | G/A | — | uncertain significance |
| rs772705224 | 11:130,284,500 | C/T | — | uncertain significance |
| rs762108752 | 11:130,284,529 | G/A | — | uncertain significance |
| rs2541493430 | 11:130,284,538 | A/C | — | uncertain significance |
| rs574346911 | 11:130,284,543 | C/T | — | likely benign |
| rs1055085436 | 11:130,284,554 | C/T | — | uncertain significance |
| rs770378305 | 11:130,284,575 | C/T | — | uncertain significance |
| rs1447246540 | 11:130,284,592 | G/C | — | uncertain significance |
| rs756979699 | 11:130,284,635 | T/C | — | uncertain significance |
| rs1443972633 | 11:130,284,647 | C/T | — | uncertain significance |
| rs36124917 | 11:130,284,668 | G/A | missense variant | — |
| rs747113922 | 11:130,286,064 | C/T | — | uncertain significance |
| rs759109196 | 11:130,286,090 | A/G | — | uncertain significance |
| rs371018503 | 11:130,286,886 | C/T | — | uncertain significance |
| rs375607745 | 11:130,286,928 | C/T | — | uncertain significance |
| rs759417672 | 11:130,288,970 | G/A | — | uncertain significance |
| rs2291348 | 11:130,289,117 | T/C | missense variant | — |
| rs1465567291 | 11:130,289,136 | T/C | — | uncertain significance |
| rs199513172 | 11:130,289,168 | A/G | — | uncertain significance |
| rs780899041 | 11:130,289,186 | T/C | — | uncertain significance |
| rs375035864 | 11:130,297,470 | C/T | — | uncertain significance |
| rs1439097827 | 11:130,297,476 | C/T | — | uncertain significance |
| rs371977062 | 11:130,297,559 | G/C | — | uncertain significance |
| rs773803243 | 11:130,297,610 | T/G | — | uncertain significance |
| rs1555075677 | 11:130,297,614 | T/C | — | likely benign |
| rs752437373 | 11:130,297,629 | C/T | — | uncertain significance |
| rs1224713050 | 11:130,297,719 | G/A | — | uncertain significance |
| rs1448669717 | 11:130,297,742 | G/A | — | uncertain significance |
| rs781470917 | 11:130,297,812 | C/T | — | uncertain significance |
| rs1037839288 | 11:130,297,890 | G/C | — | uncertain significance |
| rs1409775675 | 11:130,297,928 | C/G | — | uncertain significance |
| rs778562864 | 11:130,297,958 | A/T | — | uncertain significance |
| rs757836859 | 11:130,297,976 | G/A | — | uncertain significance |
| rs779140270 | 11:130,297,977 | C/A | — | uncertain significance |
| rs757986776 | 11:130,297,990 | G/T | — | uncertain significance |
| rs768134493 | 11:130,297,996 | C/G | — | uncertain significance |
| rs772386364 | 11:130,298,036 | C/T | — | uncertain significance |
| rs1157194658 | 11:130,298,078 | C/T | — | uncertain significance |
| rs1411614104 | 11:130,298,082 | C/A | — | uncertain significance |
| rs1003690712 | 11:130,298,147 | G/A | — | uncertain significance |
| rs2541509317 | 11:130,298,169 | G/A | — | uncertain significance |
| rs73044820 | 11:130,300,152 | C/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.