GNAT2

From Wikipedia, the free encyclopedia


Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Identifiers
Symbol(s) GNAT2; ACHM4; GNATC
External IDs OMIM: 139340 MGI: 95779 HomoloGene: 21092
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2780 14686
Ensembl ENSG00000134183 ENSMUSG00000009108
Uniprot P19087 Q8BSY7
Refseq NM_005272 (mRNA)
NP_005263 (protein)		 NM_008141 (mRNA)
NP_032167 (protein)
Location Chr 1: 109.95 - 109.96 Mb Chr 3: 108.22 - 108.23 Mb
Pubmed search [1] [2]

Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2, also known as GNAT2, is a human gene.[1]

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.[1]

[edit] References

  1. ^ a b Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2.

[edit] Further reading

  • Wilkie TM, Gilbert DJ, Olsen AS, et al. (1993). "Evolution of the mammalian G protein alpha subunit multigene family.". Nat. Genet. 1 (2): 85–91. doi:10.1038/ng0592-85. PMID 1302014. 
  • Arshavsky VYu , Gray-Keller MP, Bownds MD (1991). "cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse.". J. Biol. Chem. 266 (28): 18530–7. PMID 1655754. 
  • Mazzoni MR, Malinski JA, Hamm HE (1991). "Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope.". J. Biol. Chem. 266 (21): 14072–81. PMID 1713215. 
  • Fawzi AB, Fay DS, Murphy EA, et al. (1991). "Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms.". J. Biol. Chem. 266 (19): 12194–200. PMID 1905716. 
  • Kubo M, Hirano T, Kakinuma M (1991). "Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit.". FEBS Lett. 291 (2): 245–8. PMID 1936270. 
  • Lerea CL, Bunt-Milam AH, Hurley JB (1990). "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.". Neuron 3 (3): 367–76. PMID 2534964. 
  • Blatt C, Eversole-Cire P, Cohn VH, et al. (1988). "Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human.". Proc. Natl. Acad. Sci. U.S.A. 85 (20): 7642–6. PMID 2902634. 
  • Buss JE, Mumby SM, Casey PJ, et al. (1987). "Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins.". Proc. Natl. Acad. Sci. U.S.A. 84 (21): 7493–7. PMID 3118369. 
  • Hirano T (1994). "[Analysis of cell specific transcription of the human cone transducin alpha subunit gene]". Hokkaido Igaku Zasshi 68 (6): 885–93. PMID 8112713. 
  • Morris TA, Fong SL (1993). "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).". Genomics 17 (2): 442–8. doi:10.1006/geno.1993.1345. PMID 8406495. 
  • Morris TA, Fong WB, Ward MJ, et al. (1997). "Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2).". Invest. Ophthalmol. Vis. Sci. 38 (1): 196–206. PMID 9008644. 
  • Kohl S, Baumann B, Rosenberg T, et al. (2002). "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.". Am. J. Hum. Genet. 71 (2): 422–5. PMID 12077706. 
  • Aligianis IA, Forshew T, Johnson S, et al. (2002). "Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).". J. Med. Genet. 39 (9): 656–60. PMID 12205108. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Piña AL, Baumert U, Loyer M, Koenekoop RK (2004). "A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.". Mol. Vis. 10: 265–71. PMID 15094710. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Rosenberg T, Baumann B, Kohl S, et al. (2005). "Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.". Invest. Ophthalmol. Vis. Sci. 45 (12): 4256–62. doi:10.1167/iovs.04-0317. PMID 15557429. 
 This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.
v • d • e
Acid anhydride hydrolases: GTPases/G proteins (EC 3.6.5)
3.6.5.1: Heterotrimeric G protein
3.6.5.2: Small GTPase > Ras superfamily
3.6.5.3: Elongation factor
3.6.5.5-6: Other
Dynamin (is a GTPase, is not a G protein) - Tubulin