BFSP2, Official Symbol BFSP2provided by HGNC Official Full Name beaded filament structural protein 2provided by HGNC Primary source HGNC:HGNC:1041 See related Ensembl:ENSG00000170819 MIM:603212; AllianceGenome:HGNC:1041 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN 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] Expression Low expression observed in reference dataset See more Orthologs mouse all