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Tbio
BFSP2
Phakinin

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000302334
  • ENSP00000304987
  • ENSG00000170819

Symbol
  • CP47
  • CP49
  • LIFL-L
  • CTRCT12
  • PHAKOSIN
Illumination Graph
Knowledge Table
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
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0