MATN3 Gene - Matrilin 3
Essential component of the extracellular matrix in cartilage and bone development
Gene Information Card
| Symbol | MATN3 |
|---|---|
| Full Name | Matrilin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 4148 ncbi.nlm.nih.gov/gene/4148 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | O15232 |
| OMIM ID | 602109 |
| HGNC ID | 6909 |
| Aliases | MATN3, matrilin-3, matrilin 3 |
Description
The MATN3 gene encodes matrilin 3, a non-collagenous extracellular matrix protein predominantly expressed in cartilage and developing bone. Matrilin 3 forms filamentous networks and interacts with other matrix components such as collagen II and aggrecan, contributing to the structural integrity and biomechanical properties of cartilage. Mutations in MATN3 are associated with skeletal dysplasias, including multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Epiphyseal Dysplasia (MED) | Missense mutations in the von Willebrand factor A (vWFA) domain disrupt protein folding and secretion, leading to impaired cartilage matrix assembly. | ClinVar, OMIM #602109 |
| Spondyloepimetaphyseal Dysplasia (SEMD) | Specific missense mutations (e.g., p.Val67Asp) cause dominant-negative effects, disrupting matrilin 3 interactions and cartilage development. | OMIM #608109, PubMed |
| Osteoarthritis (susceptibility) | Polymorphisms in MATN3 may alter cartilage matrix stability, increasing risk of osteoarthritis in some populations. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 45.2 | High |
| Bone | 12.8 | Medium |
| Lung | 3.1 | Low |
| Heart | 1.5 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes (primary) | 52.0 | High expression in cartilage-derived cells |
| Osteoblasts (primary) | 8.5 | Moderate expression in bone-forming cells |
| HEK 293 | 0.1 | Negligible expression |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200T>A (p.Val67Asp) | Missense | Rare | Dominant-negative; disrupts vWFA domain and matrix assembly |
| c.361C>T (p.Arg121Trp) | Missense | Rare | Loss of function; impaired secretion and protein stability |
| c.488G>A (p.Arg163Gln) | Missense | Rare | Associated with MED; reduced binding to collagen II |
| c.589C>T (p.Arg197Cys) | Missense | Rare | Dominant-negative; causes SEMD |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to protein misfolding, retention in the endoplasmic reticulum, or reduced secretion (e.g., p.Arg121Trp).
Gain of Function (GOF)
Not clearly established for MATN3; most pathogenic mutations are dominant-negative or loss-of-function.
Dominant Negative (DN)
Mutations such as p.Val67Asp and p.Arg197Cys disrupt normal matrilin 3 interactions, interfering with wild-type protein function in the extracellular matrix.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Collagen formation (Reactome: R-HSA-1474290)
• Assembly of collagen fibrils and other multimeric structures (Reactome: R-HSA-2022090)
Protein Summary
Matrilin 3 is a 486-amino acid protein containing a von Willebrand factor A (vWFA) domain, four epidermal growth factor (EGF)-like domains, and a coiled-coil domain. It forms homo-oligomers and hetero-oligomers with other matrilins, assembling into filamentous networks in the extracellular matrix of cartilage. The vWFA domain mediates interactions with collagen II and proteoglycans, while the coiled-coil domain facilitates oligomerization. Mutations in the vWFA domain are commonly associated with skeletal dysplasias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MATN3 Knockout HEK293 Cell Line | EDJ-KQ2818 | Human | 4148 | Details Get a Quote |
| MATN3 Knockout A-549 Cell Line | EDJ-KQ23781 | Human | 4148 | Details Get a Quote |
| MATN3 Knockout HeLa Cell Line | EDJ-KQ23782 | Human | 4148 | Details Get a Quote |
| MATN3 Knockout HCT 116 Cell Line | EDJ-KQ70804 | Human | 4148 | Details Get a Quote |
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