GUCY2F explained

Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.^[1]

Function

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.^[1]

Clinical significance

Defects in this gene may be a cause of X-linked retinitis pigmentosa.^[1]

Further reading

• Blackford A, Parmigiani G, Kensler TW, Wolfgang C, Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Eshleman JR, Goggins M, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Klein A, Cameron JL, Olino K, Schulick R, Winter J, Vogelstein B, Velculescu VE, Kinzler KW, Hruban RH . Genetic mutations associated with cigarette smoking in pancreatic cancer . Cancer Res. . 69 . 8 . 3681–8 . April 2009 . 19351817 . 2669837 . 10.1158/0008-5472.CAN-09-0015 .
• Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB . Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2 . Proc. Natl. Acad. Sci. U.S.A. . 92 . 12 . 5535–9 . June 1995 . 7777544 . 41730 . 10.1073/pnas.92.12.5535. 1995PNAS...92.5535L . free .
• Yang RB, Fülle HJ, Garbers DL . Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina . Genomics . 31 . 3 . 367–72 . February 1996 . 8838319 . 10.1006/geno.1996.0060 .
• Yang RB, Garbers DL . Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers . J. Biol. Chem. . 272 . 21 . 13738–42 . May 1997 . 9153227 . 10.1074/jbc.272.21.13738. free .
• Wood LD, Calhoun ES, Silliman N, Ptak J, Szabo S, Powell SM, Riggins GJ, Wang TL, Yan H, Gazdar A, Kern SE, Pennacchio L, Kinzler KW, Vogelstein B, Velculescu VE . Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers . Hum. Mutat. . 27 . 10 . 1060–1 . October 2006 . 16941478 . 10.1002/humu.9452 . 34046523 .
• Laura RP, Hurley JB . The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2 . Biochemistry . 37 . 32 . 11264–71 . August 1998 . 9698373 . 10.1021/bi9809674 .
• Helten A, Säftel W, Koch KW . Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments . J. Neurochem. . 103 . 4 . 1439–46 . November 2007 . 17868328 . 10.1111/j.1471-4159.2007.04923.x . 37314184 .

Notes and References

1. Web site: Entrez Gene: Guanylate cyclase 2F, retinal .