Bfsp2 Gene Summary [Rat]

Predicted to be a structural constituent of eye lens. Predicted to be involved in intermediate filament organization. Predicted to act upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Predicted to be located in cytoplasm. Predicted to be active in intermediate filament. 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
Protein Coding
Official Symbol
Bfsp2
Official Name
beaded filament structural protein 2 [Source:RGD Symbol;Acc:1591927]
Ensembl ID
ENSRNOG00000010899
Bio databases IDs NCBI: 501046 Ensembl: ENSRNOG00000010899
Aliases beaded filament structural protein 2
Synonyms beaded filament structural protein 2, beaded filament structural protein 2, phakinin, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

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 rat 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.
disease
  • Alzheimer disease
  • multiple types cataract 12
  • cataract disease
regulated by
role in cell
  • maturation
  • organization
  • abnormal morphology

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 rat 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

Gene-Specific Assays for Results You Can Trust

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