| Tchem | cGMP-gated cation channel alpha-1 |
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Retinitis Pigmentosa | 226 | 5.158 | 2.6 |
| Retinitis pigmentosa 49 | 14 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ulcerative colitis | 1819 | 4.1e-06 |
| pituitary cancer | 1972 | 3.2e-05 |
| cutaneous lupus erythematosus | 1057 | 3.5e-04 |
| psoriasis | 6694 | 2.6e-03 |
| active Crohn's disease | 922 | 6.4e-03 |
| interstitial cystitis | 2312 | 6.6e-03 |
| spina bifida | 1074 | 3.9e-02 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | -1.075 | 6.4e-03 |
| cutaneous lupus erythematosus | -2.000 | 3.5e-04 |
| interstitial cystitis | -1.700 | 6.6e-03 |
| pituitary cancer | 2.300 | 3.2e-05 |
| psoriasis | -1.500 | 2.6e-03 |
| spina bifida | -1.974 | 3.9e-02 |
| ulcerative colitis | -1.400 | 4.1e-06 |
MKLSMKNNIINTQQSFVTMPNVIVPDIEKEIRRMENGACSSFSEDDDSASTSEESENENPHARGSFSYKS 1 - 70 LRKGGPSQREQYLPGAIALFNVNNSSNKDQEPEEKKKKKKEKKSKSDDKNENKNDPEKKKKKKDKEKKKK 71 - 140 EEKSKDKKEEEKKEVVVIDPSGNTYYNWLFCITLPVMYNWTMVIARACFDELQSDYLEYWLILDYVSDIV 141 - 210 YLIDMFVRTRTGYLEQGLLVKEELKLINKYKSNLQFKLDVLSLIPTDLLYFKLGWNYPEIRLNRLLRFSR 211 - 280 MFEFFQRTETRTNYPNIFRISNLVMYIVIIIHWNACVFYSISKAIGFGNDTWVYPDINDPEFGRLARKYV 281 - 350 YSLYWSTLTLTTIGETPPPVRDSEYVFVVVDFLIGVLIFATIVGNIGSMISNMNAARAEFQARIDAIKQY 351 - 420 MHFRNVSKDMEKRVIKWFDYLWTNKKTVDEKEVLKYLPDKLRAEIAINVHLDTLKKVRIFADCEAGLLVE 421 - 490 LVLKLQPQVYSPGDYICKKGDIGREMYIIKEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKAGNR 491 - 560 RTANIKSIGYSDLFCLSKDDLMEALTEYPDAKTMLEEKGKQILMKDGLLDLNIANAGSDPKDLEEKVTRM 561 - 630 EGSVDLLQTRFARILAEYESMQQKLKQRLTKVEKFLKPLIDTEFSSIEGPGAESGPIDST 631 - 690 //
