Name

BFSP2 Gene

beaded filament structural protein 2, phakinin

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]

BFSP2-AS1 Gene

BFSP2 antisense RNA 1

bfsp2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term bfsp2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

BFSP2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for BFSP2 from the Pathway Commons Protein-Protein Interactions dataset.