Bfsp2 - beaded filament structural protein 2, phakinin Gene

Also Known as CP47; CP49; LIFL-L

Species: Mus musculus

Gene Type: protein coding
Gene ID: 107993

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 References 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 References 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 References 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

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