MMP19

Chr 12

matrix metallopeptidase 19

Also known as: CODA, MMP18, RASI-1

This gene encodes a member of a family of proteins that 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. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCavitary optic disc anomalies
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
1.47
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score -0.37
OE 1.08 (0.801.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.94 (0.851.04)
284 obs / 301.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.08 (0.801.47)
00.351.4
Missense OE?0.94 (0.851.04)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 29 / 27.0Missense obs/exp: 284 / 301.8Syn Z: 0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MMP19 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →