GUCY2F

GUCY2F
Identifiers
Aliases	GUCY2F, CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2, guanylate cyclase 2F, retinal
External IDs	OMIM: 300041; MGI: 105119; HomoloGene: 37491; GeneCards: GUCY2F; OMA:GUCY2F - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq22.3-q23 Start 109,372,906 bp End 109,482,086 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X F2|X 62.85 cM Start 140,864,156 bp End 140,979,927 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right uterine tube olfactory zone of nasal mucosa endometrium canal of the cervix connective tissue adipose tissue body of uterus viscus abdomen Top expressed in layer of retina neural layer of retina ear vestibular labyrinth outer nuclear layer olfactory bulb diencephalon hypothalamus Cortex of frontal lobe hippocampal formation More reference expression data BioGPS n/a
Gene ontology Molecular function protein kinase activity nucleotide binding protein homodimerization activity GTP binding lyase activity phosphorus-oxygen lyase activity ATP binding guanylate cyclase activity signaling receptor activity adenylate cyclase activity protein heterodimerization activity peptide receptor activity Cellular component integral component of membrane membrane integral component of plasma membrane photoreceptor disc membrane guanylate cyclase complex, soluble nuclear outer membrane plasma membrane Biological process intracellular signal transduction response to stimulus regulation of rhodopsin mediated signaling pathway cyclic nucleotide biosynthetic process detection of light stimulus involved in visual perception protein phosphorylation visual perception receptor guanylyl cyclase signaling pathway cGMP biosynthetic process cGMP-mediated signaling signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2986 245650 Ensembl ENSG00000101890 ENSMUSG00000042282 UniProt P51841 Q5SDA5 RefSeq (mRNA) NM_001522 NM_001007576 RefSeq (protein) NP_001513 NP_001007577 Location (UCSC) Chr X: 109.37 – 109.48 Mb Chr X: 140.86 – 140.98 Mb PubMed search
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Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.

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.

Clinical significance

Defects in this gene may be a cause of X-linked retinitis pigmentosa.

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 (April 2009). "Genetic mutations associated with cigarette smoking in pancreatic cancer". Cancer Res. 69 (8): 3681–8. doi:10.1158/0008-5472.CAN-09-0015. PMC 2669837. PMID 19351817.
• Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB (June 1995). "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. Bibcode:1995PNAS...92.5535L. doi:10.1073/pnas.92.12.5535. PMC 41730. PMID 7777544.
• Yang RB, Fülle HJ, Garbers DL (February 1996). "Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina". Genomics. 31 (3): 367–72. doi:10.1006/geno.1996.0060. PMID 8838319.
• Yang RB, Garbers DL (May 1997). "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. doi:10.1074/jbc.272.21.13738. PMID 9153227.
• 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 (October 2006). "Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers". Hum. Mutat. 27 (10): 1060–1. doi:10.1002/humu.9452. PMID 16941478. S2CID 34046523.
• Laura RP, Hurley JB (August 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". Biochemistry. 37 (32): 11264–71. doi:10.1021/bi9809674. PMID 9698373.
• Helten A, Säftel W, Koch KW (November 2007). "Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments". J. Neurochem. 103 (4): 1439–46. doi:10.1111/j.1471-4159.2007.04923.x. PMID 17868328. S2CID 37314184.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.