Bfsp2 Gene Summary [Mouse]
A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Located in cytoplasm and intermediate filament. Is expressed in lens; olfactory epithelium; and vomeronasal organ. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Bfsp2 |
| Official Name | beaded filament structural protein 2, phakinin [Source:MGI Symbol;Acc:MGI:1333828] |
| Ensembl ID | ENSMUSG00000032556 |
| Bio databases IDs | |
| Aliases | beaded filament structural protein 2, phakinin |
| Synonyms | beaded filament structural protein 2, beaded filament structural protein 2, phakinin, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN |
| 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 Bfsp2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of eye lens
- structural constituent of cytoskeleton
- protein binding
- Intermediate filament protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- cellular membrane
- intermediate filaments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bfsp2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell maturation
- visual perception
- intermediate filament organization
- lens fiber cell development
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cell cortex
- intermediate filament
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of cytoskeleton
- structural constituent of eye lens