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}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 9156
- Expression level (log2 read counts): -0.33
BFSP2 Expression in NALM6 Cells: -0.33
