FMOD Gene - Fibromodulin
A key extracellular matrix proteoglycan involved in collagen fibrillogenesis and tissue remodeling
Gene Information Card
| Symbol | FMOD |
|---|---|
| Full Name | Fibromodulin |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 2331 ncbi.nlm.nih.gov/gene/2331 |
| Ensembl ID | ENSG00000122176 |
| UniProt ID | Q06828 |
| OMIM ID | 600245 |
| HGNC ID | 3774 |
| Aliases | FM, SLRR2E |
Description
FMOD encodes fibromodulin, a member of the small leucine-rich proteoglycan (SLRP) family. It binds to type I and type II collagen fibrils and regulates collagen fibrillogenesis, thereby influencing extracellular matrix assembly, tissue biomechanics, and wound healing. Fibromodulin also modulates TGF-beta activity and is implicated in fibrosis, osteoarthritis, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered collagen fibril organization due to FMOD deficiency or mutation leads to joint cartilage degeneration. | OMIM #600245; PubMed studies |
| Fibrosis (liver, kidney) | Dysregulated TGF-beta signaling and extracellular matrix remodeling. | NCBI Gene; PubMed |
| Cancer (breast, colorectal) | FMOD expression changes affect tumor microenvironment and metastasis. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Cartilage | 12.5 | Medium |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
| Skin | 8.2 | Low |
| Tendon | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast (skin) | 10.5 | Primary dermal fibroblasts |
| Chondrocyte | 12.0 | Articular cartilage |
| HepG2 | 0.0 | Hepatocellular carcinoma |
| MCF7 | 0.0 | Breast cancer |
| A549 | 0.0 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; associated with osteoarthritis |
| c.502C>T (p.Arg168Cys) | missense | <0.01% | Altered collagen binding; reported in ClinVar |
| c.724G>A (p.Gly242Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations affecting collagen-binding domains or leading to premature truncation reduce fibromodulin's ability to regulate collagen fibrillogenesis.
Gain of Function (GOF)
Not reported for FMOD.
Dominant Negative (DN)
Not reported for FMOD.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005518 – collagen binding | • GO:0005201 – extracellular matrix structural constituent |
| • GO:0030198 – extracellular matrix organization | • GO:0005576 – extracellular region |
| • GO:0030312 – external encapsulating structure |
Pathways
• Collagen fibrillogenesis (Reactome: R-HSA-2022090)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
Fibromodulin is a 376-amino acid extracellular matrix proteoglycan with a core protein of ~42 kDa. It contains a central domain with leucine-rich repeats (LRRs) that mediate collagen binding, and N- and C-terminal cysteine-rich regions. The protein is glycosylated with keratan sulfate chains. Fibromodulin regulates collagen fibril diameter and spacing, and modulates TGF-beta activity by sequestering the growth factor. It is highly expressed in connective tissues such as cartilage, tendon, and skin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMOD Knockout HEK293 Cell Line | EDJ-KQ378 | Human | 2331 | Details Get a Quote |
| FMOD Knockout HeLa Cell Line | EDJ-KQ18583 | Human | 2331 | Details Get a Quote |
| FMOD Knockout A-549 Cell Line | EDJ-KQ61740 | Human | 2331 | Details Get a Quote |
| FMOD Knockout HCT 116 Cell Line | EDJ-KQ70226 | Human | 2331 | Details Get a Quote |
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