GNAT2

GNAT2
Identifiers
AliasesGNAT2, ACHM4, GNATC, G protein subunit alpha transducin 2
External IDsMGI: 95779 HomoloGene: 21092 GeneCards: GNAT2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p13.3Start109,603,267 bp[1]
End109,619,929 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2780

14686

Ensembl

ENSG00000134183

ENSMUSG00000009108

UniProt

P19087

P50149

RefSeq (mRNA)

NM_005272

NM_008141

RefSeq (protein)

NP_005263

NP_032167

Location (UCSC)Chr 1: 109.6 – 109.62 MbChr 3: 108.09 – 108.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.[5][6]

Function

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134183 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000009108 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Morris TA, Fong SL (Oct 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.
  6. 1 2 "Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2".

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. doi:10.1016/0014-5793(91)81294-I. 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. doi:10.1016/0896-6273(89)90261-4. 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. doi:10.1073/pnas.85.20.7642. PMC 282248. 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. doi:10.1073/pnas.84.21.7493. PMC 299322. 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 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. doi:10.1086/341835. PMC 379175. 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. doi:10.1136/jmg.39.9.656. PMC 1735242. 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. PMC 139241. 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. PMC 528928. 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.


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