2. Gene
  3. Bfsp2 - beaded filament structural protein 2, phakinin Gene

Bfsp2 - beaded filament structural protein 2, phakinin Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as CP47; CP49; LIFL-L

Gene ID: 107993 | Gene type: protein coding

About Bfsp2

Summary

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, Apr 2022]

Bfsp2 Products(2)

mRNA Protein Name
NM_001002896.3 NP_001002896.1 phakinin isoform 1
NM_001364514.1 NP_001351443.1 phakinin isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
18178558 MGI
enables structural constituent of eye lens IDA
IDA: Inferred from direct assay
12426373 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cell maturation IMP
IMP: Inferred from mutant phenotype
14985306 MGI
acts upstream of or within cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
12573667 MGI
acts upstream of or within intermediate filament cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
15037121 MGI
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
27559293 MGI
acts upstream of or within lens fiber cell development IMP
IMP: Inferred from mutant phenotype
15037121 MGI
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12835653 MGI
located in intermediate filament IDA
IDA: Inferred from direct assay
18178558 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

phakinin

49 kDa cytoskeletal protein

lens fiber cell beaded filament protein CP 47

lens fiber cell beaded filament protein CP 49

lens intermediate filament-like light

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01487 BFSP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bfsp2 NCBI NCBI:8419