Protein Summary
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
- ENST00000265134
- ENSP00000265134
- ENSG00000095397
- ENST00000362057
- ENSP00000354623
- ENST00000374057
- ENSP00000363170
- ENST00000374059
- ENSP00000363172
- DFNB31
- KIAA1526
- WI
- CIP98
- USH2D
- DFNB31
- PDZD7B
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0 | ||
biological term | 0 | ||
cell line | 0 | ||
cell type or tissue | 0 | ||
cellular component | 0 | ||
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: 62.45 (req: < 5)
Gene RIFs: 18 (req: <= 3)
Antibodies: 144 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 62.45 (req: >= 5)
Gene RIFs: 18 (req: > 3)
Antibodies: 144 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
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