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Wikipedia

GUCY2F

Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.[5]

GUCY2F
Identifiers
AliasesGUCY2F, CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2, guanylate cyclase 2F, retinal
External IDsOMIM: 300041 MGI: 105119 HomoloGene: 37491 GeneCards: GUCY2F
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001522

NM_001007576

RefSeq (protein)

NP_001513

NP_001007577

Location (UCSC)Chr X: 109.37 – 109.48 MbChr X: 140.86 – 140.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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.[5]

Clinical significance edit

Defects in this gene may be a cause of X-linked retinitis pigmentosa.[5]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101890 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042282 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Guanylate cyclase 2F, retinal".

Further reading edit

  • 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.


gucy2f, retinal, guanylyl, cyclase, also, known, guanylate, cyclase, protein, that, humans, encoded, gene, identifiersaliases, cygf, guc2dl, guc2f, retgc, guanylate, cyclase, retinalexternal, idsomim, 300041, 105119, homologene, 37491, genecards, gene, locatio. Retinal guanylyl cyclase 2 also known as guanylate cyclase F GUCY2F is a protein that in humans is encoded by the GUCY2F gene 5 GUCY2FIdentifiersAliasesGUCY2F CYGF GC F GUC2DL GUC2F RETGC 2 ROS GC2 guanylate cyclase 2F retinalExternal IDsOMIM 300041 MGI 105119 HomoloGene 37491 GeneCards GUCY2FGene location Human Chr X chromosome human 1 BandXq22 3 q23Start109 372 906 bp 1 End109 482 086 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX F2 X 62 85 cMStart140 864 156 bp 2 End140 979 927 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tubeendometriumcanal of the cervixconnective tissueadipose tissueviscusarthropod abdomenabdominal fatabdominal wallperitoneumTop expressed inearvestibular labyrinthouter nuclear layerolfactory bulbdiencephalonhypothalamushippocampal formationhippocampus properMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein 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 activityCellular componentintegral component of membrane membrane integral component of plasma membrane photoreceptor disc membrane guanylate cyclase complex soluble nuclear outer membrane plasma membraneBiological processintracellular 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 transductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2986245650EnsemblENSG00000101890ENSMUSG00000042282UniProtP51841Q5SDA5RefSeq mRNA NM 001522NM 001007576RefSeq protein NP 001513NP 001007577Location UCSC Chr X 109 37 109 48 MbChr X 140 86 140 98 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further readingFunction editThe 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 5 Clinical significance editDefects in this gene may be a cause of X linked retinitis pigmentosa 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000101890 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000042282 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c Entrez Gene Guanylate cyclase 2F retinal Further reading editBlackford 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 Fulle 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 Saftel 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 Portal nbsp Biology nbsp This article on a gene on the human X chromosome and or its associated protein is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title GUCY2F amp oldid 1198033536, wikipedia, wiki, book, books, library,

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