Protein Summary
Involved in stabilization of lens fiber cell cytoskeleton. 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]
- ENST00000302334
- ENSP00000304987
- ENSG00000170819
- CP47
- CP49
- LIFL-L
- CTRCT12
- PHAKOSIN
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
cellular component | 0.56 | ||
gene perturbation | 0.53 | ||
cell line | 0.52 | ||
disease | 0.46 | ||
trait | 0.46 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 570.23 (req: < 5)
Gene RIFs: 7 (req: <= 3)
Antibodies: 134 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 570.23 (req: >= 5)
Gene RIFs: 7 (req: > 3)
Antibodies: 134 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0