MMP16
matrix metallopeptidase 16
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 encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2664370 | 8:89,051,297 | T/C | — | benign |
| rs2487671120 | 8:89,068,431 | C/G | — | uncertain significance |
| rs770102092 | 8:89,068,477 | T/C | — | uncertain significance |
| rs1477908 | 8:89,073,084 | A/C | — | — |
| rs1824717 | 8:89,075,979 | T/C | intron variant | — |
| rs2487699658 | 8:89,086,845 | C/A | — | uncertain significance |
| rs755055835 | 8:89,086,854 | C/T | — | uncertain significance |
| rs1057492560 | 8:89,086,883 | C/T | — | uncertain significance |
| rs760308984 | 8:89,086,899 | G/A | — | uncertain significance |
| rs28991885 | 8:89,086,924 | G/A | — | benign |
| rs1808616327 | 8:89,086,949 | C/T | — | uncertain significance |
| rs1808616585 | 8:89,086,956 | G/A | — | uncertain significance |
| rs2664349 | 8:89,089,282 | G/A | regulatory region variant | — |
| rs10090371 | 8:89,119,683 | C/G | — | — |
| rs138174209 | 8:89,128,758 | C/T | — | uncertain significance |
| rs141858403 | 8:89,128,810 | C/T | — | uncertain significance |
| rs139170994 | 8:89,128,890 | C/T | — | uncertain significance |
| rs763022004 | 8:89,130,975 | G/T | — | uncertain significance |
| rs2487829035 | 8:89,180,159 | T/G | — | uncertain significance |
| rs745987268 | 8:89,198,775 | T/G | — | uncertain significance |
| rs773090533 | 8:89,198,813 | G/A | — | uncertain significance |
| rs1401862 | 8:89,204,838 | T/C | intron variant | — |
| rs2176771 | 8:89,207,265 | C/A | intron variant | — |
| rs2487865499 | 8:89,209,438 | T/G | — | uncertain significance |
| rs7010876 | 8:89,264,751 | T/A | intron variant | — |
| rs1467251 | 8:89,272,062 | G/A | intron variant | — |
| rs4043663 | 8:89,275,232 | G/C | — | — |
| rs7014590 | 8:89,335,647 | T/C | upstream gene variant | — |
| rs148050831 | 8:89,339,334 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.