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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MATN2
matrilin 2
Chromosome 8 · 8q22.1-q22.2
NCBI Gene: 4147Ensembl: ENSG00000132561.15HGNC: HGNC:6908UniProt: A0A140VKH7
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixmatrilin complexprotein bindingextracellular matrix structural constituentAbnormality of the skeletal systemneurodegenerative diseaseresponse to antibioticpoisoning
✦AI Summary

MATN2 (matrilin-2) encodes a large extracellular matrix protein that forms filamentous networks and functions as an adapter protein involved in matrix organization 1. The protein consists of 956 amino acids with multiple domains including von Willebrand factor A-like domains, epidermal growth factor-type modules, and an oligomerization domain 2. MATN2 plays crucial roles in tissue development and repair, particularly in muscle regeneration where it controls the timing of myogenic differentiation by promoting cell cycle exit and expression of myogenic genes like MyoD and Myog 3. However, MATN2 also has pathological functions, acting as a damage-associated molecular pattern that signals through TLR4 to activate macrophages and promote inflammatory responses in neurological diseases like multiple sclerosis 4. The protein modulates collagen architecture, with increased MATN2 expression associated with thinner collagen fibers and altered fiber assembly 5. In cancer, MATN2 appears to function as a tumor suppressor in ovarian cancer, where it interacts with PTEN to inhibit the PI3K/AKT pathway and suppress tumor growth 6. MATN2 expression patterns and methylation status serve as potential biomarkers for various conditions including long COVID, insulin resistance, and cancer 78.

Sources cited
1
MATN2 encodes a filament-forming adapter protein involved in extracellular matrix organization
PMID: 11852232
2
The protein consists of 956 amino acids with von Willebrand factor A-like domains and other structural modules
PMID: 11124542
3
MATN2 controls timing of myogenic differentiation by promoting cell cycle exit and myogenic gene expression
PMID: 24895400
4
MATN2 acts as a damage-associated molecular pattern signaling through TLR4 to activate inflammatory responses
PMID: 25329699
5
MATN2 modulates collagen architecture and fiber assembly
PMID: 35583819
6
MATN2 functions as tumor suppressor in ovarian cancer through PTEN/PI3K/AKT pathway
PMID: 38568332
7
MATN2 serves as potential biomarker for long COVID symptoms
PMID: 38589621
8
MATN2 methylation patterns are associated with insulin resistance prediction
PMID: 39180924
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
poisoningOpen Targets
0.32Weak
response to antibioticOpen Targets
0.32Weak
eosinophilic esophagitisOpen Targets
0.30Weak
dyshidrosisOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.22Weak
neoplasmOpen Targets
0.06Suggestive
drug allergyOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.03Suggestive
skin basal cell carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAMTSL5Shared pathway100%COL6A5Shared pathway100%COL24A1Shared pathway100%COL22A1Shared pathway100%COL6A6Shared pathway100%ADAMTSL1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Heart
59%
Liver
14%
Brain
6%
Lung
5%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
MATN2ADAMTSL5COL6A5COL24A1COL22A1COL6A6ADAMTSL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O00339
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.81]
RankingsWhere MATN2 stands among ~20K protein-coding genes
  • #8,331of 20,598
    Most Researched54
  • #6,800of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedMATN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease.
PMID: 38589621
Nat Immunol · 2024
1.00
2
Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes.
PMID: 11124542
Cytogenet Cell Genet · 2000
0.90
3
Extracellular deposition of matrilin-2 controls the timing of the myogenic program during muscle regeneration.
PMID: 24895400
J Cell Sci · 2014
0.80
4
Axonally derived matrilin-2 induces proinflammatory responses that exacerbate autoimmune neuroinflammation.
PMID: 25329699
J Clin Invest · 2014
0.70
5
Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices.
PMID: 11852232
Matrix Biol · 2002
0.60