| Tclin | Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma |
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Color Vision Defects | 3 | 0.0 | 0.0 |
| Retinal Cone Dystrophy 3A | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| group 3 medulloblastoma | 4104 | 3.8e-06 |
| osteosarcoma | 7950 | 4.2e-06 |
| pituitary cancer | 1972 | 3.0e-02 |
| Disease | Target Count |
|---|---|
| Achromatopsia | 16 |
| Disease | log2 FC | p |
|---|---|---|
| group 3 medulloblastoma | 4.100 | 3.8e-06 |
| osteosarcoma | -2.281 | 4.2e-06 |
| pituitary cancer | 1.400 | 3.0e-02 |
| Accession | Q13956 Q52LY7 GMP-PDE gamma |
| Symbols |
RCD3 ACHM6 |
