Protein Summary
Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
- ENST00000307340
- ENSP00000305941
- ENSG00000042781
- ENST00000366942
- ENSP00000355909
- US2
- RP39
- USH2
- dJ1111A8.1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
trait | 1 | ||
protein domain | 0.97 | ||
tissue | 0.73 | ||
cellular component | 0.72 | ||
disease | 0.69 | ||
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: 639.47 (req: < 5)
Gene RIFs: 117 (req: <= 3)
Antibodies: 42 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 639.47 (req: >= 5)
Gene RIFs: 117 (req: > 3)
Antibodies: 42 (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