Protein Summary
Plays a role in the control of cell shape and motility in the trabecular meshwork. The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding disti ...more
- ENST00000396618
- ENSP00000379862
- ENSG00000100473
- ENST00000475087
- ENSP00000451528
- ENST00000643575
- ENSP00000494838
- ENST00000644874
- ENSP00000496360
- COCH5B2
- DFNA9
- COCH5B2
- DFNB110
- COCH-5B2
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
PubMedID | 0.95 | ||
gene perturbation | 0.91 | ||
kinase perturbation | 0.81 | ||
histone modification site profile | 0.78 | ||
small molecule perturbation | 0.74 | ||
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: 171.49 (req: < 5)
Gene RIFs: 59 (req: <= 3)
Antibodies: 202 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 171.49 (req: >= 5)
Gene RIFs: 59 (req: > 3)
Antibodies: 202 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
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