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Gene Review

GNAT2  -  guanine nucleotide binding protein (G...

Homo sapiens

Synonyms: ACHM4, GNATC, Guanine nucleotide-binding protein G(t) subunit alpha-2, Transducin alpha-2 chain
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Disease relevance of GNAT2


High impact information on GNAT2


Biological context of GNAT2


Anatomical context of GNAT2

  • In this report we analyze the replication of an amplified genomic region encompassing the 3'-end of the GNAI3 gene, the entire GNAT2 gene and the intergenic region between them in exponentially growing Chinese hamster fibroblasts [5].
  • With respect to the physical mapping of the proteins specific to the retinal pigmentary epithelium or to cones we noted that the cone-specific alpha-subunit of the transducin gene (GNAT2) has been mapped to chromosome 1p13 (Wilkie et al. 1992) [8].
  • Cone alpha transducin (GNAT2), known to be expressed in photoreceptors, was found to be transcribed in human fetal cochlea [3].

Associations of GNAT2 with chemical compounds

  • According to literature and our molecular computer modeling, the K270 plays an important role in securing the guanine ring in the nucleotide binding cleft of the molecule and in creating a salt bridge between the helical and GTPase domains of GNAT2 [9].

Other interactions of GNAT2

  • The GNAT2 upstream sequence shows no significant identity with the upstream region of the human rod transducin alpha-subunit gene (GNAT1) or with the upstream regions of the color visual pigment genes, indicating that the expression of GNAT2 may be regulated differently than these other rod- and cone-specific proteins [1].
  • Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder [10].
  • The efficiency of coupling to mGluR6 was Goa > Gob, Gi1 > Gi2, Gi3, whereas no coupling was observed with Galphaz, nor with the retinal Galpha proteins, rod (GNAT2) or cone (GNAT1) transducin (GalphaTr-R, GalphaTr-C) [11].
  • Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease [12].
  • We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing [12].

Analytical, diagnostic and therapeutic context of GNAT2


  1. Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Morris, T.A., Fong, S.L. Genomics (1993) [Pubmed]
  2. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadalà, M., Jacobson, S.G., Wissinger, B. Am. J. Hum. Genet. (2002) [Pubmed]
  3. Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome. Magovcevic, I., Berson, E.L., Morton, C.C. Hear. Res. (1996) [Pubmed]
  4. Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Blatt, C., Eversole-Cire, P., Cohn, V.H., Zollman, S., Fournier, R.E., Mohandas, L.T., Nesbitt, M., Lugo, T., Jones, D.T., Reed, R.R. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  5. oriGNAI3: a narrow zone of preferential replication initiation in mammalian cells identified by 2D gel and competitive PCR replicon mapping techniques. Toledo, F., Baron, B., Fernandez, M.A., Lachagès, A.M., Mayau, V., Buttin, G., Debatisse, M. Nucleic Acids Res. (1998) [Pubmed]
  6. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in gnat2. Chang, B., Dacey, M.S., Hawes, N.L., Hitchcock, P.F., Milam, A.H., Atmaca-Sonmez, P., Nusinowitz, S., Heckenlively, J.R. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  7. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Rosenberg, T., Baumann, B., Kohl, S., Zrenner, E., Jorgensen, A.L., Wissinger, B. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  8. Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. Gerber, S., Rozet, J.M., Bonneau, D., Souied, E., Weissenbach, J., Frezal, J., Munnich, A., Kaplan, J. Hum. Genet. (1995) [Pubmed]
  9. A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. Piña, A.L., Baumert, U., Loyer, M., Koenekoop, R.K. Mol. Vis. (2004) [Pubmed]
  10. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl, S., Varsanyi, B., Antunes, G.A., Baumann, B., Hoyng, C.B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R.G., Jacobson, S.G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P.A., Munier, F.L., Zrenner, E., Sharpe, L.T., Cremers, F.P., Wissinger, B. Eur. J. Hum. Genet. (2005) [Pubmed]
  11. G protein coupling profile of mGluR6 and expression of G[alpha] proteins in retinal ON bipolar cells. Tian, L., Kammermeier, P.J. Vis. Neurosci. (2006) [Pubmed]
  12. Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. Magovcevic, I., Weremowicz, S., Morton, C.C., Fong, S.L., Berson, E.L., Dryja, T.P. Genomics (1995) [Pubmed]
  13. DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR. Rozet, J.M., Gerber, S., Bonneau, D., Munnich, A., Kaplan, J. Hum. Mol. Genet. (1994) [Pubmed]
  14. Retinal degeneration in cone photoreceptor cell-ablated transgenic mice. Ying, S., Jansen, H.T., Lehman, M.N., Fong, S.L., Kao, W.W. Mol. Vis. (2000) [Pubmed]
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