ADAM2
ADAM metallopeptidase domain 2
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200534841 | 8:39,603,992 | C/T | — | uncertain significance |
| rs200220193 | 8:39,604,015 | C/T | — | uncertain significance |
| rs201499441 | 8:39,604,025 | T/C | — | uncertain significance |
| rs1487217735 | 8:39,604,034 | A/T | — | uncertain significance |
| rs2536558948 | 8:39,604,099 | A/G | — | uncertain significance |
| rs151129845 | 8:39,604,103 | G/C | — | uncertain significance |
| rs1823475880 | 8:39,604,124 | G/C | — | uncertain significance |
| rs748681168 | 8:39,607,200 | A/G | — | uncertain significance |
| rs2536569383 | 8:39,607,211 | G/A | — | uncertain significance |
| rs1452346886 | 8:39,607,244 | C/T | — | uncertain significance |
| rs1802124294 | 8:39,613,286 | C/A | — | uncertain significance |
| rs1312394249 | 8:39,613,382 | T/G | — | uncertain significance |
| rs761884012 | 8:39,613,417 | C/T | — | uncertain significance |
| rs370546728 | 8:39,618,696 | C/T | — | uncertain significance |
| rs142623293 | 8:39,618,749 | T/C | — | uncertain significance |
| rs769505541 | 8:39,624,481 | A/G | — | uncertain significance |
| rs949536747 | 8:39,624,549 | T/C | — | likely benign |
| rs776540252 | 8:39,624,746 | A/G | — | uncertain significance |
| rs2536619399 | 8:39,626,939 | C/A | — | uncertain significance |
| rs773106630 | 8:39,627,075 | T/A | — | uncertain significance |
| rs150195285 | 8:39,627,083 | C/T | — | uncertain significance |
| rs149614318 | 8:39,631,378 | C/T | intron variant | — |
| rs758762108 | 8:39,634,583 | T/C | — | uncertain significance |
| rs751772458 | 8:39,634,604 | T/A | — | uncertain significance |
| rs1303460265 | 8:39,634,624 | G/T | — | uncertain significance |
| rs747836448 | 8:39,644,518 | G/A | — | uncertain significance |
| rs146775573 | 8:39,644,542 | G/C | — | uncertain significance |
| rs373837116 | 8:39,644,551 | A/G | — | uncertain significance |
| rs201482345 | 8:39,645,714 | A/C | — | uncertain significance |
| rs543250139 | 8:39,645,748 | G/A | — | uncertain significance |
| rs764909682 | 8:39,645,770 | T/G | — | uncertain significance |
| rs748619350 | 8:39,646,217 | C/A | — | uncertain significance |
| rs376032416 | 8:39,679,116 | A/C | — | uncertain significance |
| rs753494675 | 8:39,691,469 | A/T | — | uncertain significance |
| rs372759606 | 8:39,694,722 | C/T | — | uncertain significance |
| rs765473656 | 8:39,695,658 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.