AMZ2
archaelysin family metallopeptidase 2
Summary
The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781945511 | 17:66,246,346 | C/G | — | uncertain significance |
| rs77434249 | 17:66,246,350 | G/A | — | uncertain significance |
| rs782024612 | 17:66,246,357 | C/A | — | uncertain significance |
| rs2074348517 | 17:66,246,383 | A/G | — | uncertain significance |
| rs3213690 | 17:66,246,416 | A/G | — | benign |
| rs199955871 | 17:66,246,423 | G/A | — | uncertain significance |
| rs201062877 | 17:66,246,432 | G/A | — | uncertain significance |
| rs201769912 | 17:66,246,444 | A/G | — | uncertain significance |
| rs553841913 | 17:66,246,450 | T/C | — | uncertain significance |
| rs1555738665 | 17:66,246,491 | T/C | — | uncertain significance |
| rs375421911 | 17:66,246,587 | C/T | — | uncertain significance |
| rs61748823 | 17:66,246,961 | A/G | — | uncertain significance |
| rs183324449 | 17:66,246,987 | G/A | — | likely benign |
| rs61739674 | 17:66,247,192 | G/A | — | likely benign |
| rs782012937 | 17:66,247,244 | G/A | — | uncertain significance |
| rs782698957 | 17:66,247,254 | C/A | — | uncertain significance |
| rs575931127 | 17:66,247,327 | G/A | — | likely benign |
| rs12940880 | 17:66,249,919 | T/C | intron variant | — |
| rs77962247 | 17:66,250,552 | G/T | — | benign |
| rs2074746544 | 17:66,250,665 | A/T | — | uncertain significance |
| rs138911562 | 17:66,251,858 | C/T | — | likely benign |
| rs782337022 | 17:66,251,896 | C/T | — | uncertain significance |
| rs1443147702 | 17:66,252,001 | T/C | — | likely benign |
| rs199815732 | 17:66,252,007 | A/G | — | uncertain significance |
| rs147149178 | 17:66,252,977 | A/G | — | uncertain significance |
| rs113287202 | 17:66,253,019 | A/G | — | benign |
| rs1217337868 | 17:66,253,074 | G/T | — | uncertain significance |
| rs7105 | 17:66,253,095 | T/A | — | benign |
| rs2074957618 | 17:66,253,099 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.