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Gene Review

GUCY2D  -  guanylate cyclase 2D, membrane (retina...

Homo sapiens

Synonyms: CORD5, CORD6, CYGD, GUC1A4, GUC2D, ...
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Disease relevance of GUCY2D


Psychiatry related information on GUCY2D

  • The diffusion model () and the leaky competing accumulator model (LCA, ) were tested against two-choice data collected from the same subjects with the standard response time procedure and the response signal procedure [6].
  • Case studies demonstrate that the new tool is well suited to support and complement existing methods for decision making in waste and resource management such as LCA [7].
  • We have, therefore, examined six brains from cases of sporadic CJD by immunohistochemical labelling of grey and white matter microglia from frontal, parietal, temporal, and occipital lobes, striatum, thalamus, cerebellum and brain stem with RCA-1, LCA, CD68, HLA-DR, and HAM56 [8].

High impact information on GUCY2D

  • AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage [1].
  • Until now, however, little was known about the pathophysiology of the disease, but LCA is usually regarded as the consequence of either impaired development of photoreceptors or extremely early degeneration of cells that have developed normally [4].
  • The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA [4].
  • Specific generation of C3a desArg and C5b-9 by LCA indicated C3/C5 convertase formation with activation proceeding to completion [9].
  • Our results suggest that retGC may synthesize cGMP required for recovery of the dark state after phototransduction [10].

Chemical compound and disease context of GUCY2D

  • OBJECTIVES: The aim of this study was to compare the effect of a combination of lansoprazole, clarithromycin, and amoxicillin (LCA) versus placebo on the severity of symptoms in functional dyspepsia patients who were positive for Helicobacter pylori (H. pylori) [11].
  • Mutations in the gene coding for photoreceptor specific guanylate cyclase type 1, ROS-GC1, were found to be the cause for the type 1 Leber's congenital amaurosis (LCAI) and cone-rod dystrophy type 6 (CORD6) [12].
  • Twenty-seven JXG, ten dermatofibromas (DF), and ten age-matched normal skin specimens were stained using standard immunohistochemistry methods, and all JXGs were fascin+ and CD68+, although 26 of 27 were reactive for HLA-DR, 25 of 27 for Factor XIIIa, 25 of 27 for LCA, 21of 27 for CD4, and 8 of 27 for polyclonal s100 [13].
  • Changes in the cell surface glycoproteins were investigated in endometrial adenocarcinomas using eight biotin-labelled lectins (Con A, LCA, WGA, e-PHA, l-PHA, SBA, PNA, LTA) which select for the major classes of N-linked and O-linked oligosaccharides [14].
  • In this study, we assessed bone marrow clot and/or core biopsy sections of 19 cases of acute lymphoblastic leukemia (ALL) using routinely decalcified, B5- or formalin-fixed, paraffin-embedded sections and a panel of monoclonal antibodies, including LN1, LN2, L26, Leu-22, UCHL-1, and LCA [15].

Biological context of GUCY2D


Anatomical context of GUCY2D

  • It appears that the heterozygous GUCY2D mutation further disrupts the already compromised photoreceptor function resulting in more severe retinal dysfunction in the older sibling [19].
  • CONCLUSIONS: An 11-year-old subject with LCA caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery [2].
  • This correlates well with the known retinal expression pattern of GUCY2D, which is considerably higher in cone compared with rod photoreceptor cells [21].
  • Among the bone marrow samples provided by the 32 limited disease patients, LCA positive cells were detected in 9 (28%) compared to 14 out of the 27 (52%) samples from extensive disease patients (p less than 0.05) [22].
  • In situ hybridization analysis of a variety of rhesus monkey tissues showed retGC transcripts to be localized exclusively along the retinal outer nuclear layer, corresponding to the nuclei of the rod and cone photoreceptor cells [10].

Associations of GUCY2D with chemical compounds

  • PURPOSE: All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838 [23].
  • For the first time, the findings define the linkage of distinct molecular forms of LCA to ROS-GC1 in precise biochemical terms; they also explain the reasons for the insufficient production of cyclic GMP in photoreceptors to sustain phototransduction, which ultimately leads to the degeneration of the photoreceptors [24].
  • At nanomolar concentrations of Ca(2+), ROS-GC1 is activated by Ca(2+)-binding proteins named guanylate cyclase activating proteins (GCAPs) [25].
  • In addition to GCAPs several other proteins including aktin, tubulin, a glutamic-acid-rich protein and a GTPase accelerating protein (RGS9) were found to interact with ROS-GC1 and probably form a multiprotein complex [26].
  • The present studies were undertaken to examine the effectiveness of anti-SCLC rat monoclonal antibodies LCA1 and LC66 plus human complement combined with a derivative of cyclophosphamide (Asta-Z 7557) for the elimination of cancerous clonogenic cells from the graft [27].

Physical interactions of GUCY2D

  • A permanent ROS-GC1/GCAP-1 complex is physiologically significant, since it allows a very short response time of cyclase activity when the intracellular Ca2+-concentration changes [28].

Regulatory relationships of GUCY2D

  • Recombinant Fugu GCAP1 failed to activate human retinal guanylate cyclase (retGC) in vitro although CD spectroscopy shows that the protein is folded with a similar secondary structure to that of human GCAP1 [29].

Other interactions of GUCY2D

  • Mutations were most frequently found in CRB1 (15.5%), followed by GUCY2D (10.3%) [30].
  • We suggest that the unusual phenotypic variability in these two siblings with LCA is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation [19].
  • A reduced dark-adapted isolated rod ERG response and/or maximal combined cone and rod response was recorded in carriers with mutations in the AIPL1, GUCY2D, and RPGRIP1 genes [31].
  • The clinical presentation was variable; however, the visual evolution in patients with mutations in GUCY2D and CRX remained stable, while individuals with mutations in the RPE65 gene showed progressive visual loss [32].
  • The new GUCY2D mutation (c.3283delC, p.Pro1069ArgfsX37) is the first pathological sequence change reported in the intracellular C-terminal domain of GUCY2D, and did not lead to the commonly associated LCA, but to a juvenile retinitis pigmentosa phenotype [33].

Analytical, diagnostic and therapeutic context of GUCY2D


  1. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Sohocki, M.M., Bowne, S.J., Sullivan, L.S., Blackshaw, S., Cepko, C.L., Payne, A.M., Bhattacharya, S.S., Khaliq, S., Qasim Mehdi, S., Birch, D.G., Harrison, W.R., Elder, F.F., Heckenlively, J.R., Daiger, S.P. Nat. Genet. (2000) [Pubmed]
  2. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Milam, A.H., Barakat, M.R., Gupta, N., Rose, L., Aleman, T.S., Pianta, M.J., Cideciyan, A.V., Sheffield, V.C., Stone, E.M., Jacobson, S.G. Ophthalmology (2003) [Pubmed]
  3. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. Hameed, A., Khaliq, S., Ismail, M., Anwar, K., Ebenezer, N.D., Jordan, T., Mehdi, S.Q., Payne, A.M., Bhattacharya, S.S. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  4. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Perrault, I., Rozet, J.M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E., Ghazi, I., Leowski, C., Bonnemaison, M., Le Paslier, D., Frézal, J., Dufier, J.L., Pittler, S., Munnich, A., Kaplan, J. Nat. Genet. (1996) [Pubmed]
  5. A radioimmunometric assay for the detection and characterization of lung cancer-associated antibodies in sera of lung cancer patients. Hatzitheofilou, C., Kern, D.H., Gupta, R.K., Campbell, M.A., Morton, D.L. J. Surg. Res. (1987) [Pubmed]
  6. Modeling response signal and response time data. Ratcliff, R. Cognitive psychology. (2006) [Pubmed]
  7. A new, entropy based method to support waste and resource management decisions. Rechberger, H., Brunner, P.H. Environ. Sci. Technol. (2002) [Pubmed]
  8. Reactive microglia in Creutzfeldt-Jakob disease. Mühleisen, H., Gehrmann, J., Meyermann, R. Neuropathol. Appl. Neurobiol. (1995) [Pubmed]
  9. Isolation and characterization of a complement-activating lipid extracted from human atherosclerotic lesions. Seifert, P.S., Hugo, F., Tranum-Jensen, J., Zâhringer, U., Muhly, M., Bhakdi, S. J. Exp. Med. (1990) [Pubmed]
  10. Molecular cloning of a retina-specific membrane guanylyl cyclase. Shyjan, A.W., de Sauvage, F.J., Gillett, N.A., Goeddel, D.V., Lowe, D.G. Neuron (1992) [Pubmed]
  11. Absence of symptomatic benefit of lansoprazole, clarithromycin, and amoxicillin triple therapy in eradication of Helicobacter pylori positive, functional (nonulcer) dyspepsia. Veldhuyzen van Zanten, S., Fedorak, R.N., Lambert, J., Cohen, L., Vanjaka, A. Am. J. Gastroenterol. (2003) [Pubmed]
  12. Retinal diseases linked with photoreceptor guanylate cyclase. Duda, T., Koch, K.W. Mol. Cell. Biochem. (2002) [Pubmed]
  13. "Juvenile" xanthogranuloma: an immunophenotypic study with a reappraisal of histogenesis. Kraus, M.D., Haley, J.C., Ruiz, R., Essary, L., Moran, C.A., Fletcher, C.D. The American Journal of dermatopathology. (2001) [Pubmed]
  14. The loss of lectin reactivity from human endometrium is a feature of malignant change. Sivridis, E., Agnantis, N. Pathol. Res. Pract. (1996) [Pubmed]
  15. Immunophenotypic analysis of acute lymphoblastic leukemia using routinely processed bone marrow specimens. Taubenberger, J.K., Cole, D.E., Raffeld, M., Poplack, D.G., Jaffe, E.S., Medeiros, L.J. Arch. Pathol. Lab. Med. (1991) [Pubmed]
  16. Mutation screening of Pakistani families with congenital eye disorders. Khaliq, S., Abid, A., Hameed, A., Anwar, K., Mohyuddin, A., Azmat, Z., Shami, S.A., Ismail, M., Mehdi, S.Q. Exp. Eye Res. (2003) [Pubmed]
  17. Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. Tucker, C.L., Ramamurthy, V., Pina, A.L., Loyer, M., Dharmaraj, S., Li, Y., Maumenee, I.H., Hurley, J.B., Koenekoop, R.K. Mol. Vis. (2004) [Pubmed]
  18. Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. Ozgül, R.K., Bozkurt, B., Kiratli, H., Oğüş, A. Eye (London, England) (2006) [Pubmed]
  19. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. Silva, E., Dharmaraj, S., Li, Y.Y., Pina, A.L., Carter, R.C., Loyer, M., Traboulsi, E., Theodossiadis, G., Koenekoop, R., Sundin, O., Maumenee, I. Ophthalmic Genet. (2004) [Pubmed]
  20. Leber congenital amaurosis: a genetic paradigm. Allikmets, R. Ophthalmic Genet. (2004) [Pubmed]
  21. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Koenekoop, R.K., Fishman, G.A., Iannaccone, A., Ezzeldin, H., Ciccarelli, M.L., Baldi, A., Sunness, J.S., Lotery, A.J., Jablonski, M.M., Pittler, S.J., Maumenee, I. Arch. Ophthalmol. (2002) [Pubmed]
  22. Detection of small cell lung cancer bone marrow metastases by immunofluorescence. Humblet, Y., Canon, J.L., Sekhavat, M., Feyens, A.M., Manouvriez, P., Lebacq-Verheyden, A.M., Bazin, H., Prignot, J., Symann, M. Pathol. Biol. (1988) [Pubmed]
  23. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. Ito, S., Nakamura, M., Nuno, Y., Ohnishi, Y., Nishida, T., Miyake, Y. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  24. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Duda, T., Venkataraman, V., Goraczniak, R., Lange, C., Koch, K.W., Sharma, R.K. Biochemistry (1999) [Pubmed]
  25. Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. Duda, T., Krishnan, A., Venkataraman, V., Lange, C., Koch, K.W., Sharma, R.K. Biochemistry (1999) [Pubmed]
  26. Photoreceptor specific guanylate cyclases in vertebrate phototransduction. Koch, K.W., Duda, T., Sharma, R.K. Mol. Cell. Biochem. (2002) [Pubmed]
  27. Immunological and pharmacological removal of small cell lung cancer cells from bone marrow autografts. Humblet, Y., Feyens, A.M., Sekhavat, M., Agaliotis, D., Canon, J.L., Symann, M.L. Cancer Res. (1989) [Pubmed]
  28. Target recognition of guanylate cyclase by guanylate cyclase-activating proteins. Koch, K.W. Adv. Exp. Med. Biol. (2002) [Pubmed]
  29. Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes. Wilkie, S.E., Stinton, I., Cottrill, P., Deery, E., Newbold, R., Warren, M.J., Bhattacharya, S.S., Hunt, D.M. Biochim. Biophys. Acta (2002) [Pubmed]
  30. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Yzer, S., Leroy, B.P., De Baere, E., de Ravel, T.J., Zonneveld, M.N., Voesenek, K., Kellner, U., Ciriano, J.P., de Faber, J.T., Rohrschneider, K., Roepman, R., den Hollander, A.I., Cruysberg, J.R., Meire, F., Casteels, I., van Moll-Ramirez, N.G., Allikmets, R., van den Born, L.I., Cremers, F.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  31. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Galvin, J.A., Fishman, G.A., Stone, E.M., Koenekoop, R.K. Ophthalmology (2005) [Pubmed]
  32. Mutational analysis and clinical correlation in Leber congenital amaurosis. Dharmaraj, S.R., Silva, E.R., Pina, A.L., Li, Y.Y., Yang, J.M., Carter, C.R., Loyer, M.K., El-Hilali, H.K., Traboulsi, E.K., Sundin, O.K., Zhu, D.K., Koenekoop, R.K., Maumenee, I.H. Ophthalmic Genet. (2000) [Pubmed]
  33. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. Booij, J.C., Florijn, R.J., ten Brink, J.B., Loves, W., Meire, F., van Schooneveld, M.J., de Jong, P.T., Bergen, A.A. J. Med. Genet. (2005) [Pubmed]
  34. Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. Oliveira, L., Miniou, P., Viegas-Pequignot, E., Rozet, J.M., Dollfus, H., Pittler, S.J. Genomics (1994) [Pubmed]
  35. Inhibition of retinal guanylyl cyclase by the RGS9-1 N-terminus. Yu, H., Bondarenko, V.A., Yamazaki, A. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  36. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. Williams, M.L., Coleman, J.E., Haire, S.E., Aleman, T.S., Cideciyan, A.V., Sokal, I., Palczewski, K., Jacobson, S.G., Semple-Rowland, S.L. PLoS Med. (2006) [Pubmed]
  37. Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA. Bemelmans, A.P., Kostic, C., Hornfeld, D., Jaquet, M., Crippa, S.V., Hauswirth, W.W., Lem, J., Wang, Z., Schorderet, D.E., Munier, F.L., Wenzel, A., Arsenijevic, Y. Adv. Exp. Med. Biol. (2006) [Pubmed]
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