Fbln5 Gene Summary [Mouse]
Enables integrin binding activity. Involved in several processes, including elastic fiber assembly; intramembranous bone growth; and regulation of transcription by RNA polymerase II. Acts upstream of or within extracellular matrix organization. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix and elastic fiber. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and skeleton. Used to study cutis laxa. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Orthologous to human FBLN5 (fibulin 5). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fbln5 |
| Official Name | fibulin 5 [Source:MGI Symbol;Acc:MGI:1346091] |
| Ensembl ID | ENSMUSG00000021186 |
| Bio databases IDs | |
| Aliases | fibulin 5 |
| Synonyms | A55, ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, Fibulin 5, HNARMD, UP50 |
| Species | Mouse, Mus musculus |
| 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 mouse Fbln5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- integrin binding
- protein homodimerization
- protein binding
- Coagulation Factor Xa inhibitory site
- integrin binding domain
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ulcerative colitis
- colon adenocarcinoma
- colon epithelial cancer
- diabetic nephropathy
- age-related macular degeneration type 3
- hereditary neuropathy with or without age-related macular degeneration
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- urothelial bladder carcinoma
role in cell
- expression in
- production in
- proliferation
- activation in
- migration
- growth
- inhibition
- invasion by
- organization
- invasion
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
- membrane surface
- cytosol
- microfibrils
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Fbln5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- protein localization at cell surface
- secretion
- elastic fiber assembly
- regulation of removal of superoxide radicals
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- elastic fiber
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- calcium ion binding
- integrin binding
- extracellular matrix constituent conferring elasticity