BFSP2

Gene Information
  • Official Symbol: BFSP2
  • Official Name: beaded filament structural protein 2
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 8419
  • UniProt: Q13515
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez Summary: More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009].
  • UniProt Summary: Involved in stabilization of lens fiber cell cytoskeleton. {ECO:0000250|UniProtKB:Q6NVD9}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 9156
  • Expression level (log2 read counts): -0.33

Expression Distribution

  • Last modified: 2025/12/10 20:19
  • by 127.0.0.1