FMOD Gene Summary [Human]
Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | FMOD |
| Official Name | fibromodulin [Source:HGNC Symbol;Acc:HGNC:3774] |
| Ensembl ID | ENSG00000122176 |
| Bio databases IDs | |
| Aliases | fibromodulin, fibromodulin proteoglycan |
| Synonyms | fibromodulin, FM, SLRR2E |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FMOD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucine-rich repeat
- protein phosphatase 1 regulatory subunit 42
- Leucine rich repeat
- Leucine rich repeat N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- adenoma formation
- uterine leiomyoma
- leiomyomatosis
- androgenic alopecia
- bruising
- squamous cell cancer of the oral cavity
- head and neck neoplasia
- oral squamous cell carcinoma
- neoplasia
- endometriosis
role in cell
- expression in
- apoptosis
- proliferation
- phosphorylation in
- quantity
- migration
- activation in
- abnormal morphology
- invasion
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi lumen
- intracellular space
- lysosomal compartment
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FMOD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transforming growth factor beta receptor complex assembly
- collagen fibril organization
Cellular Component
Where in the cell the gene product is active
- extracellular space
- lysosomal lumen
- extracellular matrix
- Golgi lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring compression resistance