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Guanin nukleotid-vezujući protein (G protein), alfa inhibirajući polipeptid 2
Identifikatori
Simboli	GNAT2; ACHM4; GNATC
Vanjski ID	OMIM: 139340 MGI: 95779 HomoloGene: 21092 GeneCards: GNAT2 Gene
Ontologija gena
Molekularna funkcija	• vezivanje nukleotida; • aktivnost prenosa signala; • GTP vezivanje; • aktivnost G-protein spregnutog fotoreceptora;
Celularna komponenta	• heterotrimerni G-proteinski kompleks;
Biološki proces	• prenos signala; • signalni put G-protein spregnutog receptora; • vizuelna percepcija; • fototransdukcija; • respons na stimulus;
Pregled RNK izražavanja
	podaci
Ortolozi

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GNAT2, Guanin nukleotid-vezujući protein G(t), alfa-2 podjedinica, je protein koji je kod ljudi kodiran GNAT2 genom.^[1]^[2]

Transducin je tri komponentni guanin nukleotid vezujući protein (G protein), koji stimuliše spregu rodopsina i cGMP-fosfodiesteraze tokom vizuelnih impulsa. Transducin alfa podjedinice u štapićima i kupama oka su kodirane zasebnim genima. Ti geni kodiraju alfa podjedinice štapića. Alternativno splajsovanje tih gena rezultuje u dve transkriptne varijante.^[2]

Reference

↑ 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.
↑ ^2,0 ^2,1 „Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2”.

Literatura

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.

[pmid8406495-1] 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.

[entrez-2] 2,0 ^2,1 „Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2”.

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