MMP9
matrix metallopeptidase 9
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. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]
Known Variants307 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3918241 | 20:44,635,735 | T/A | upstream gene variant | — |
| rs3918242 | 20:44,635,976 | C/T | upstream gene variant | — |
| rs121434556 | 20:44,637,567 | T/A | missense variant | uncertain significance |
| rs1600573638 | 20:44,637,580 | G/A | — | likely benign |
| rs771269085 | 20:44,637,592 | G/T | — | likely benign |
| rs377557970 | 20:44,637,593 | G/A | — | uncertain significance |
| rs200142137 | 20:44,637,604 | G/T | — | likely benign |
| rs28763885 | 20:44,637,610 | C/T | — | likely benign |
| rs1350257309 | 20:44,637,613 | C/T | — | likely benign |
| rs886056714 | 20:44,637,623 | G/A | — | uncertain significance |
| rs1805088 | 20:44,637,624 | C/T | — | likely benign |
| rs144023823 | 20:44,637,635 | C/T | — | likely benign |
| rs143089810 | 20:44,637,636 | G/A | — | uncertain significance |
| rs749857186 | 20:44,637,640 | G/A | — | likely benign |
| rs201841087 | 20:44,637,645 | C/T | — | uncertain significance |
| rs45592943 | 20:44,637,646 | C/T | — | conflicting classifications of pathogenicity |
| rs753482129 | 20:44,637,652 | G/T | — | likely benign |
| rs200436945 | 20:44,637,658 | C/T | — | likely benign |
| rs756942448 | 20:44,637,659 | C/T | — | uncertain significance |
| rs1311674897 | 20:44,637,674 | A/G | — | uncertain significance |
| rs41427445 | 20:44,637,678 | A/G | — | benign |
| rs139837207 | 20:44,637,685 | C/T | — | likely benign |
| rs201595065 | 20:44,637,686 | G/A | — | uncertain significance |
| rs3918249 | 20:44,638,136 | T/G | — | — |
| rs3918250 | 20:44,638,352 | A/G | — | likely benign |
| rs200040822 | 20:44,638,500 | C/T | — | conflicting classifications of pathogenicity |
| rs2515610911 | 20:44,638,502 | C/T | — | uncertain significance |
| rs1236078412 | 20:44,638,506 | A/G | — | uncertain significance |
| rs139620474 | 20:44,638,517 | C/T | — | likely pathogenic |
| rs373331430 | 20:44,638,539 | C/T | — | uncertain significance |
| rs199906203 | 20:44,638,541 | G/C | — | uncertain significance |
| rs201069991 | 20:44,638,548 | G/A | — | uncertain significance |
| rs1489372682 | 20:44,638,572 | C/T | — | uncertain significance |
| rs146719297 | 20:44,638,576 | G/A | — | likely benign |
| rs2084264586 | 20:44,638,606 | G/A | — | likely benign |
| rs143695450 | 20:44,638,616 | G/T | — | uncertain significance |
| rs2084264785 | 20:44,638,625 | G/A | — | uncertain significance |
| rs45482493 | 20:44,638,630 | C/T | — | likely benign |
| rs1485098105 | 20:44,638,641 | A/G | — | uncertain significance |
| rs562814692 | 20:44,638,653 | C/G | — | uncertain significance |
| rs2515611044 | 20:44,638,667 | G/A | — | uncertain significance |
| rs200316960 | 20:44,638,692 | C/T | — | uncertain significance |
| rs202158739 | 20:44,638,710 | A/G | — | uncertain significance |
| rs1173991915 | 20:44,638,725 | A/G | — | uncertain significance |
| rs200290957 | 20:44,638,732 | C/A | — | likely benign |
| rs1568846477 | 20:44,638,744 | C/G | — | likely benign |
| rs113001970 | 20:44,638,745 | G/A | — | likely benign |
| rs199711234 | 20:44,638,749 | C/T | — | benign |
| rs200676629 | 20:44,638,751 | G/A | — | likely benign |
| rs748177749 | 20:44,638,754 | G/A | — | likely benign |
| rs3918251 | 20:44,638,781 | A/G | regulatory region variant | benign |
| rs79845319 | 20:44,638,971 | A/C | — | benign |
| rs3918252 | 20:44,639,131 | C/G | — | uncertain significance |
| rs188970590 | 20:44,639,134 | C/T | — | likely benign |
| rs756724622 | 20:44,639,136 | C/G | — | uncertain significance |
| rs2515611715 | 20:44,639,143 | C/A | — | not provided |
| rs2515611722 | 20:44,639,146 | G/A | — | likely benign |
| rs193209205 | 20:44,639,147 | C/T | — | uncertain significance |
| rs757458476 | 20:44,639,154 | C/T | — | uncertain significance |
| rs370718441 | 20:44,639,181 | C/G | — | uncertain significance |
| rs1414262275 | 20:44,639,188 | A/G | — | likely benign |
| rs753159137 | 20:44,639,201 | G/A | — | uncertain significance |
| rs753889026 | 20:44,639,208 | C/A | — | uncertain significance |
| rs143024943 | 20:44,639,214 | C/T | — | uncertain significance |
| rs2515611807 | 20:44,639,234 | C/T | — | uncertain significance |
| rs2084272390 | 20:44,639,237 | G/A | — | uncertain significance |
| rs8125581 | 20:44,639,243 | G/A | — | uncertain significance |
| rs769681535 | 20:44,639,254 | C/A | — | likely benign |
| rs202214757 | 20:44,639,268 | C/A | — | uncertain significance |
| rs183834856 | 20:44,639,269 | G/A | — | likely benign |
| rs773948750 | 20:44,639,273 | G/A | — | uncertain significance |
| rs201044639 | 20:44,639,279 | G/A | — | likely benign |
| rs930335677 | 20:44,639,288 | G/A | — | likely benign |
| rs369381301 | 20:44,639,289 | A/C | — | likely benign |
| rs3918253 | 20:44,639,511 | T/C | — | benign |
| rs1358683376 | 20:44,639,542 | T/C | — | likely benign |
| rs200292673 | 20:44,639,546 | G/C | — | conflicting classifications of pathogenicity |
| rs2515612139 | 20:44,639,551 | G/A | — | likely benign |
| rs371298738 | 20:44,639,561 | A/G | — | uncertain significance |
| rs200799611 | 20:44,639,583 | C/T | — | likely benign |
| rs201932479 | 20:44,639,588 | G/A | — | uncertain significance |
| rs55789927 | 20:44,639,599 | C/G | — | uncertain significance |
| rs1263490093 | 20:44,639,611 | G/C | — | uncertain significance |
| rs757968778 | 20:44,639,620 | C/T | — | uncertain significance |
| rs779776020 | 20:44,639,622 | T/A | — | likely benign |
| rs564979879 | 20:44,639,628 | C/G | — | likely benign |
| rs770222441 | 20:44,639,647 | C/T | — | uncertain significance |
| rs200618210 | 20:44,639,670 | G/A | — | conflicting classifications of pathogenicity |
| rs200146604 | 20:44,639,676 | G/A | — | conflicting classifications of pathogenicity |
| rs199602749 | 20:44,639,678 | G/A | — | uncertain significance |
| rs2274755 | 20:44,639,692 | G/T | splice region variant | benign |
| rs771446944 | 20:44,639,762 | G/A | — | likely benign |
| rs774252805 | 20:44,639,765 | C/T | — | likely benign |
| rs533941846 | 20:44,639,769 | C/G | — | likely benign |
| rs979973452 | 20:44,639,780 | A/G | — | uncertain significance |
| rs765092423 | 20:44,639,785 | T/C | — | uncertain significance |
| rs1382740469 | 20:44,639,797 | T/G | — | uncertain significance |
| rs766452393 | 20:44,639,810 | T/C | — | likely benign |
| rs750969696 | 20:44,639,812 | G/A | — | uncertain significance |
| rs1327610599 | 20:44,639,846 | C/A | — | likely benign |
Showing 100 of 307 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.