MMP9
This page contains an overview of the genetic variation in the MMP9 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
MMP9 gene and transcript details
Gene Name
matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)
Gene Links
Ensembl: ENSG00000100985 -
Locus Reference Genomic:
Genomic Location
Chromosome 20 : 44,637,566 - 44,645,007 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2121 bases) | Protein (707 aa) |
|---|---|---|
 |
ENST00000372330 | ENSP00000361405 |
 |
||
 |
NM_004994.2 | |
 |
P14780 |
Summary of MMP9 in Cardiomyopathies
MMP9 variants in ExAC
Details of the protein-altering MMP9 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 290 | 0.00419 |
| Truncating | 25 | 0.00048 |
| Missense | 241 | 0.00342 |
| Inframe | 2 | 0.00003 |
| Splice Site | 22 | 0.00027 |