Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| BFSP2 beaded filament structural protein 2 | CP47 , CP49 , LIFL-L , CTRCT12 , PHAKOSIN | Homo sapiens | 7 | protein-coding | KRT18 , KRT24 , KRT23 , KRT33B , KRT34 , LOC100653049 , KRT33A , KRT31 , KRT40 , KRT38 , KRT37 , KRT39 , KRT35 , KRT32 , KRT36 , KRT19 , KRT27 , KRT28 , KRT25 , KRT26 , KRT10 , KRT12 , KRT17 , KRT20 , KRT16 , KRT14 , KRT9 , KRT15 , KRT13 | 603212 |
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]
GeneOntology
Gene Loss events - BFSP2 (3 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_CUFDBR | Condylura cristata | Eulipotyphla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_D6O9EV | Nannospalax galili | Rodentia | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_N8BHJN | Chrysochloris asiatica | Afrosoricida | Gene deletion | Full | No | 10.1093/icb/icy004 |