| Tbio | Clarin-1 |
May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Retinitis Pigmentosa | 226 | 4.022 | 2.0 |
| RETINITIS PIGMENTOSA 61 | 1 | 0.0 | 0.0 |
| USHER SYNDROME, TYPE IIIA | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 1.3e-06 |
| aldosterone-producing adenoma | 665 | 1.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Usher syndrome | 32 | 6.869 | 3.4 |
| Disease | Target Count |
|---|---|
| Usher syndrome type 3 | 5 |
| Usher syndrome, type 3A | 1 |
| Disease | log2 FC | p |
|---|---|---|
| aldosterone-producing adenoma | 2.360 | 1.9e-02 |
| ovarian cancer | -1.500 | 1.3e-06 |
