| Tbio | Retinal guanylyl cyclase 2 |
Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.
The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leber congenital amaurosis | 72 | 4.44 | 2.2 |
| Cone dystrophy | 59 | 3.893 | 1.9 |
| non-syndromic X-linked intellectual disability | 21 | 3.06 | 1.5 |
| Pyloric stenosis | 9 | 3.051 | 1.5 |
| PMID | Text | |
|---|---|---|
| 19351817 | Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | |
| 17868328 | Mutants of GC-activating protein 2 modulated ROS-GC2 in a manner different from their action on ROS-GC1 indicating that the Ca2+ sensitivity of the Ca2+ sensor is controlled by the mode of target-sensor interaction. | |
| 16941478 | Results show GUCY2F gene was implicated in the pathogenesis of breast, lung, and pancreatic cancers and it may be useful targets for diagnostic and therapeutic intervention in selected patients. |
MFLGLGRFSRLVLWFAAFRKLLGHHGLASAKFLWCLCLLSVMSLPQQVWTLPYKIGVVGPWACDSLFSKA 1 - 70 LPEVAARLAIERINRDPSFDLSYSFEYVILNEDCQTSRALSSFISHHQMASGFIGPTNPGYCEAASLLGN 71 - 140 SWDKGIFSWACVNYELDNKISYPTFSRTLPSPIRVLVTVMKYFQWAHAGVISSDEDIWVHTANRVASALR 141 - 210 SHGLPVGVVLTTGQDSQSMRKALQRIHQADRIRIIIMCMHSALIGGETQMHLLECAHDLKMTDGTYVFVP 211 - 280 YDALLYSLPYKHTPYRVLRNNPKLREAYDAVLTITVESQEKTFYQAFTEAAARGEIPEKLEFDQVSPLFG 281 - 350 TIYNSIYFIAQAMNNAMKENGQAGAASLVQHSRNMQFHGFNQLMRTDSNGNGISEYVILDTNLKEWELHS 351 - 420 TYTVDMEMELLRFGGTPIHFPGGRPPRADAKCWFAEGKICHGGIDPAFAMMVCLTLLIALLSINGFAYFI 421 - 490 RRRINKIQLIKGPNRILLTLEDVTFINPHFGSKRGSRASVSFQITSEVQSGRSPRLSFSSGSLTPATYEN 491 - 560 SNIAIYEGDWVWLKKFSLGDFGDLKSIKSRASDVFEMMKDLRHENINPLLGFFYDSGMFAIVTEFCSRGS 561 - 630 LEDILTNQDVKLDWMFKSSLLLDLIKGMKYLHHREFVHGRLKSRNCVVDGRFVLKVTDYGFNDILEMLRL 631 - 700 SEEESSMEELLWTAPELLRAPRGSRLGSFAGDVYSFAIIMQEVMVRGTPFCMMDLPAQEIINRLKKPPPV 701 - 770 YRPVVPPEHAPPECLQLMKQCWAEAAEQRPTFDEIFNQFKTFNKGKKTNIIDSMLRMLEQYSSNLEDLIR 771 - 840 ERTEELEIEKQKTEKLLTQMLPPSVAESLKKGCTVEPEGFDLVTLYFSDIVGFTTISAMSEPIEVVDLLN 841 - 910 DLYTLFDAIIGSHDVYKVETIGDAYMVASGLPKRNGSRHAAEIANMSLDILSSVGTFKMRHMPEVPVRIR 911 - 980 IGLHSGPVVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHVSLSTVTILQNLSEGYEVELRGRTELK 981 - 1050 GKGTEETFWLIGKKGFMKPLPVPPPVDKDGQVGHGLQPVEIAAFQRRKAERQLVRNKP 1051 - 1108 //
| PMID | Year | Title | |
|---|---|---|---|
| 23033978 | 2012 | Diagnostic exome sequencing in persons with severe intellectual disability. | |
| 19351817 | 2009 | Genetic mutations associated with cigarette smoking in pancreatic cancer. | |
| 17868328 | 2007 | Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments. | |
| 17344846 | 2007 | Patterns of somatic mutation in human cancer genomes. | |
| 16959974 | 2006 | The consensus coding sequences of human breast and colorectal cancers. | |
| 16941478 | 2006 | Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. | |
| 15772651 | 2005 | The DNA sequence of the human X chromosome. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 9698373 | 1998 | The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. | |
| 9153227 | 1997 | Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers. | |
| 8838319 | 1996 | Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. | |
| 7777544 | 1995 | Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. |
