| Tbio | Protein XRP2 |
Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polycystic ovary syndrome | 360 | 0.0 | 0.0 |
| Retinitis pigmentosa 2 | 8 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| astrocytoma | 1146 | 8.4e-28 |
| oligodendroglioma | 2850 | 1.2e-16 |
| glioblastoma | 5792 | 7.0e-10 |
| ependymoma | 4679 | 7.3e-10 |
| Astrocytoma, Pilocytic | 3081 | 9.9e-07 |
| primitive neuroectodermal tumor | 3035 | 7.3e-05 |
| aldosterone-producing adenoma | 665 | 2.2e-04 |
| adult high grade glioma | 3801 | 8.1e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 8.4e-04 |
| primary Sjogren syndrome | 735 | 1.3e-03 |
| lung cancer | 4740 | 1.8e-03 |
| breast carcinoma | 1638 | 2.7e-03 |
| sonic hedgehog group medulloblastoma | 467 | 2.3e-02 |
| Disease | Target Count |
|---|---|
| Retinitis Pigmentosa | 226 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.700 | 8.1e-04 |
| aldosterone-producing adenoma | -1.267 | 2.2e-04 |
| astrocytoma | 1.800 | 8.4e-28 |
| Astrocytoma, Pilocytic | 2.100 | 9.9e-07 |
| atypical teratoid / rhabdoid tumor | 1.300 | 8.4e-04 |
| breast carcinoma | 1.400 | 2.7e-03 |
| ependymoma | 2.300 | 7.3e-10 |
| glioblastoma | 2.000 | 7.0e-10 |
| lung cancer | -1.300 | 1.8e-03 |
| oligodendroglioma | 1.700 | 1.2e-16 |
| primary Sjogren syndrome | 1.100 | 1.3e-03 |
| primitive neuroectodermal tumor | 1.300 | 7.3e-05 |
| sonic hedgehog group medulloblastoma | 1.100 | 2.3e-02 |
MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENC 1 - 70 NIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESS 71 - 140 SNIKFGCFQWYYPELAFQFKDAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAV 141 - 210 RVSTEANRSIVPISRGQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRV 211 - 280 FREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI 281 - 350 //
