GNAT2
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| Guanin nukleotid-vezujući protein (G protein), alfa inhibirajući polipeptid 2 | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | GNAT2;ACHM4; GNATC | ||||||||||
| Vanjski ID | OMIM:139340MGI:95779HomoloGene:21092GeneCards:GNAT2 Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 2780 | 14686 | |||||||||
| Ensembl | ENSG00000134183 | ENSMUSG00000009108 | |||||||||
| UniProt | P19087 | Q8BSY7 | |||||||||
| RefSeq (mRNA) | NM_005272 | NM_008141 | |||||||||
| RefSeq (protein) | NP_005263 | NP_032167 | |||||||||
| Lokacija (UCSC) | Chr 1: 109.95 - 109.96 Mb | Chr 3: 108.22 - 108.23 Mb | |||||||||
| PubMedpretraga | [1] | [2] | |||||||||
GNAT2,Guanin nukleotid-vezujući protein G(t), alfa-2 podjedinica,jeproteinkoji je kod ljudi kodiranGNAT2genom.[1][2]
Transducinje tri komponentniguaninnukleotidvezujući protein (G protein), koji stimuliše spregurodopsinai cGMP-fosfodiesteraze tokom vizuelnih impulsa. Transducin alfa podjedinice u štapićima i kupama oka su kodirane zasebnim genima. Ti geni kodiraju alfa podjedinice štapića.Alternativno splajsovanjetih gena rezultuje u dve transkriptne varijante.[2]
- ↑Morris TA, Fong SL (Oct 1993). „Characterization of the gene encoding human cone transducin Alpha -subunit (GNAT2)”.Genomics17(2): 442–8.DOI:10.1006/geno.1993.1345.PMID8406495.
- ↑2,02,1„Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), Alpha transducing activity polypeptide 2”.
- 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.PMID1302014.
- 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.PMID1655754.
- 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.PMID1713215.
- 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.PMID1905716.
- 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.PMID1936270.
- Lerea CL, Bunt-Milam AH, Hurley JB (1990). „Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.”.Neuron3(3): 367–76.DOI:10.1016/0896-6273(89)90261-4.PMID2534964.
- 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.PMC282248.PMID2902634.
- 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.PMC299322.PMID3118369.
- Hirano T (1994). „[Analysis of cell specific transcription of the human cone transducin Alpha subunit gene]”.Hokkaido Igaku Zasshi68(6): 885–93.PMID8112713.
- 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.PMID9008644.
- 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.PMC379175.PMID12077706.
- 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.PMC1735242.PMID12205108.
- 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.PMC139241.PMID12477932.
- 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.PMID15094710.
- 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.PMC528928.PMID15489334.
- 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.PMID15557429.