MMP28

Chr 17

matrix metallopeptidase 28

Also known as: EPILYSIN, MM28, MMP-25, MMP-28, MMP25

NCBI Gene: 79148ENSG00000271447UniProt: Q9H239

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

0
Active trials
6
Pathogenic / LP
35
ClinVar variants
6
Pubs (1 yr)
0.6
Missense Z
1.84
LOEUF
Clinical Summary— MMP28
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 29 VUS of 35 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.84LOEUF
pLI 0.000
Z-score -0.25
OE 1.11 (0.60–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.57Z-score
OE missense 0.82 (0.66–1.01)
62 obs / 76.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.11 (0.60–1.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.82 (0.66–1.01)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.58
0≤1.21.6
LoF obs/exp: 6 / 5.4Missense obs/exp: 62 / 76.0Syn Z: 1.81

ClinVar Variant Classifications

35 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS29
6
Pathogenic
29
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
26
3
0
29
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0269035

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MMP28 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Matrix metalloproteinases as therapeutic targets for idiopathic pulmonary fibrosis.
Craig VJ et al.·Am J Respir Cell Mol Biol
2015Review
Upregulation and Nuclear Location of MMP28 in Alveolar Epithelium of Idiopathic Pulmonary Fibrosis.
Maldonado M et al.·Am J Respir Cell Mol Biol
2018
Reciprocal regulation of MMP-28 and EGFR is required for sustaining proliferative signaling in PDAC.
Hong Z et al.·J Exp Clin Cancer Res
2025
Profile of Expression of Genes Encoding Matrix Metallopeptidase 9 (MMP9), Matrix Metallopeptidase 28 (MMP28) and TIMP Metallopeptidase Inhibitor 1 (TIMP1) in Colorectal Cancer: Assessment of the Role in Diagnosis and Prognostication.
Lorenc Z et al.·Med Sci Monit
2017
High expression of MMP28 indicates unfavorable prognosis in pancreatic cancer.
Chen Z et al.·Medicine (Baltimore)
2021
Uncovering CD248, MMP28, and SLC16A10 in Sjögren's disease: a machine learning-driven SHAP approach for CD4+ T cell-associated biomarker discovery.
Wang Q et al.·Clin Exp Rheumatol
2025
MMP28 promotes tumorigenesis and gemcitabine resistance in pancreatic cancer by promoting glycolysis through interaction with SND1.
Liu Y et al.·Biochem Pharmacol
2026
Identification of novel therapeutic target and prognostic biomarker in matrix metalloproteinase gene family in pancreatic cancer.
Luan H et al.·Sci Rep
2023
Alveolar MMP28 is associated with clinical outcomes and measures of lung injury in acute respiratory distress syndrome.
Morrell ED et al.·Crit Care
2020
Integration of CRISPR/dCas9-Based methylation editing with guide positioning sequencing identifies dynamic changes of mrDEGs in breast cancer progression.
Zhang B et al.·Cell Mol Life Sci
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients