Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BFSP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8419
Official gene symbolBFSP2
Full namebeaded filament structural protein 2, phakinin
Aliases,CP47,CP49,LIFL-L,MGC142078,MGC142080,PHAKOSIN,
Gene summaryMore 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]
LocationChromosome: 3   Locus: 3q21-q25
Gene position133118790 - 133194056  Map Viewer
Gene orientationplus
Gene size75267 bp
Gene sequence
OMIM ID603212