MMP3
matrix metallopeptidase 3
Summary
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1555004517 | 11:102,706,906 | G/C | — | uncertain significance |
| rs569444 | 11:102,707,305 | G/A | coding sequence variant | benign |
| rs639752 | 11:102,707,339 | C/A | coding sequence variant | — |
| rs563096 | 11:102,707,366 | A/T | coding sequence variant | — |
| rs575027 | 11:102,707,914 | A/G | — | benign |
| rs2496291267 | 11:102,708,043 | A/G | — | uncertain significance |
| rs782702129 | 11:102,708,057 | T/C | — | likely benign |
| rs781807154 | 11:102,708,062 | C/A | — | uncertain significance |
| rs1858901208 | 11:102,708,088 | T/C | — | uncertain significance |
| rs650108 | 11:102,708,787 | G/T | — | — |
| rs1162092449 | 11:102,709,342 | G/A | — | uncertain significance |
| rs1555004939 | 11:102,709,346 | C/T | — | uncertain significance |
| rs41516350 | 11:102,709,380 | G/A | — | benign |
| rs1657076887 | 11:102,709,385 | T/A | — | uncertain significance |
| rs520540 | 11:102,709,425 | A/G | — | benign |
| rs646910 | 11:102,709,522 | T/A | — | benign |
| rs2496295943 | 11:102,709,921 | G/T | — | uncertain significance |
| rs781850506 | 11:102,709,940 | G/A | — | uncertain significance |
| rs146875246 | 11:102,709,947 | C/A | — | uncertain significance |
| rs3025094 | 11:102,710,083 | A/G | — | benign |
| rs3025066 | 11:102,710,483 | T/C | downstream gene variant | — |
| rs476762 | 11:102,710,707 | T/A | — | benign |
| rs145663265 | 11:102,710,916 | C/A | — | benign |
| rs565138607 | 11:102,710,944 | G/A | — | uncertain significance |
| rs200250895 | 11:102,710,959 | G/T | — | uncertain significance |
| rs139187731 | 11:102,710,965 | G/A | — | uncertain significance |
| rs3025065 | 11:102,710,982 | T/C | — | benign |
| rs782403880 | 11:102,711,162 | T/C | — | uncertain significance |
| rs2496298814 | 11:102,711,195 | G/T | — | uncertain significance |
| rs782213288 | 11:102,711,239 | G/A | — | likely benign |
| rs1309603660 | 11:102,711,324 | C/G | — | uncertain significance |
| rs376063834 | 11:102,711,327 | A/G | — | likely benign |
| rs591058 | 11:102,711,338 | T/C | downstream gene variant | benign |
| rs680753 | 11:102,711,581 | C/G | — | benign |
| rs782241657 | 11:102,712,927 | C/A | — | uncertain significance |
| rs376760953 | 11:102,712,953 | G/T | — | uncertain significance |
| rs2496302347 | 11:102,712,983 | C/T | — | uncertain significance |
| rs2496302351 | 11:102,712,984 | C/T | — | uncertain significance |
| rs3020919 | 11:102,713,046 | T/C | — | benign |
| rs3020920 | 11:102,713,125 | T/C | — | benign |
| rs782642043 | 11:102,713,160 | A/T | — | benign |
| rs139243180 | 11:102,713,181 | C/A | — | likely benign |
| rs113453592 | 11:102,713,183 | T/A | — | likely benign |
| rs145941285 | 11:102,713,185 | A/G | — | uncertain significance |
| rs148579119 | 11:102,713,204 | A/G | — | likely benign |
| rs41380244 | 11:102,713,447 | G/C | — | benign |
| rs782571621 | 11:102,713,463 | A/G | — | uncertain significance |
| rs547601378 | 11:102,713,464 | C/T | — | uncertain significance |
| rs602128 | 11:102,713,465 | A/G | — | benign |
| rs377547395 | 11:102,713,491 | G/A | — | uncertain significance |
| rs114749974 | 11:102,713,504 | A/G | — | benign |
| rs552104362 | 11:102,713,509 | C/T | — | uncertain significance |
| rs149147183 | 11:102,713,525 | C/T | — | benign |
| rs1859032947 | 11:102,713,542 | G/C | — | uncertain significance |
| rs1565226397 | 11:102,713,562 | A/T | — | uncertain significance |
| rs372498396 | 11:102,713,605 | G/T | — | uncertain significance |
| rs679620 | 11:102,713,620 | T/C | missense variant | benign |
| rs138533783 | 11:102,713,627 | G/A | — | likely benign |
| rs678815 | 11:102,713,777 | G/C | regulatory region variant | benign |
| rs116604710 | 11:102,714,220 | A/G | — | benign |
| rs1414816680 | 11:102,714,255 | A/G | — | uncertain significance |
| rs144383864 | 11:102,714,266 | A/T | — | likely benign |
| rs368234859 | 11:102,714,284 | T/G | — | likely benign |
| rs617819 | 11:102,714,716 | C/G | — | benign |
| rs522616 | 11:102,715,048 | T/A | — | — |
| rs632478 | 11:102,715,681 | T/G | upstream gene variant | — |
| rs3025058 | 11:102,715,948 | — | — | — |
| rs2134406683 | 11:102,718,667 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.