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Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.


RefSeq Accession Definition Services Price Order
NM_005272 Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. ORF Sequence $308.85
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RefSeq Version NM_005272.3, 109148540
Length 1384 bp
Structure linear
Update Date 18-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.
Product guanine nucleotide-binding protein G(t) subunit alpha-2
Comment

Summary: 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. [provided by RefSeq, Jul 2008].

RefSeq NP_005263.1
CDS 214..1278
Misc Feature(1)181..183
Misc Feature(2)250..1269
Misc Feature(3)250..1269
Misc Feature(4)313..1257
Misc Feature(5)order(331..333,346..354,754..756,811..813,820..822,
Misc Feature(6)331..354
Misc Feature(7)order(334..342,424..426,436..438,448..450,457..459,
Misc Feature(8)739..765
Misc Feature(9)754..756
Misc Feature(10)order(757..759,763..765,769..771,802..804,808..810,
Misc Feature(11)order(763..765,838..840,847..852,859..861)
Misc Feature(12)811..822
Misc Feature(13)814..864
Misc Feature(14)1018..1029
Misc Feature(15)order(1162..1197,1201..1212)
Misc Feature(16)1186..1194
Exon (1)1..331
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (2)332..374
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (3)375..516
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (4)517..674
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (5)675..803
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (6)804..933
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (7)934..1087
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Exon (8)1088..1365
Gene:GNAT2
Gene Synonym:ACHM4; GNATC
Translation MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGESGKSTIVKQMKIIHQDG YSPEECLEFKAIIYGNVLQSILAIIRAMTTLGIDYAEPSCADDGRQLNNLADSIEEGTMP PELVEVIRRLWKDGGVQACFERAAEYQLNDSASYYLNQLERITDPEYLPSEQDVLRSRVK TTGIIETKFSVKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFCAALSAYDMVLVEDDEV NRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEEKIKKVHLSICFPEYDGNNSYDDAG NYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF
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Position Chain Variation Link
complement(75)-dbSNP:
complement(75)-g, adbSNP:186255282
complement(85)-t, cdbSNP:116819755
complement(150)-t, gdbSNP:180838035
complement(161..162)-, cdbSNP:34046712
complement(182)-t, cdbSNP:2304355
complement(227)-g, adbSNP:199503029
complement(331)-c, adbSNP:143075307
complement(352)-dbSNP:
complement(352)-t, cdbSNP:146606352
complement(355)-t, cdbSNP:200725841
complement(358)-t, cdbSNP:201659866
complement(360)-g, adbSNP:146945932
complement(448)-dbSNP:
complement(448)-t, cdbSNP:121434585
complement(456)-g, adbSNP:200316722
complement(459)-t, cdbSNP:192176115
complement(470)-t, g, cdbSNP:140250745
complement(493)-t, cdbSNP:201588334
complement(515)-g, adbSNP:146695290
complement(516)-t, cdbSNP:183147259
complement(523)-dbSNP:
complement(523)-t, cdbSNP:145002495
complement(532)-c, adbSNP:3738766
complement(555)-g, adbSNP:142976178
complement(562)-t, cdbSNP:147269835
complement(582)-g, adbSNP:12046787
complement(583)-t, cdbSNP:41280330
complement(640)-t, cdbSNP:149421007
complement(759)-dbSNP:
complement(759)-g, adbSNP:1799875
complement(761)-g, adbSNP:1799940
complement(763)-t, cdbSNP:201798524
complement(831)-dbSNP:
complement(831)-g, adbSNP:140231308
complement(885)-g, adbSNP:201230566
complement(928)-t, cdbSNP:140788789
complement(938)-dbSNP:
complement(938)-t, cdbSNP:142609327
complement(946)-t, cdbSNP:147849105
complement(1023)-g, cdbSNP:191211731
complement(1088)-dbSNP:
complement(1088)-t, cdbSNP:200224608
complement(1109)-g, adbSNP:200056419
complement(1141)-g, adbSNP:200883344
complement(1144)-t, cdbSNP:200137591
complement(1146)-g, adbSNP:34723289
complement(1179)-g, cdbSNP:139314029
complement(1270)-g, adbSNP:61754627
complement(1328)-g, cdbSNP:116688317
Gene SymbolGNAT2
Gene SynonymACHM4; GNATC
Chromosome1
Locus Map1p13.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005272 Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. Full Length $401.36
ORF Sequence $308.85
Title Clinical utility gene card for: achromatopsia .
Author Kohl,S. and Hamel,C.P.
Journal Eur. J. Hum. Genet. 19 (6) (2011)
Title Genome-wide association study of recurrent early-onset major depressive disorder .
Author Shi,J., Potash,J.B., Knowles,J.A., Weissman,M.M., Coryell,W., Scheftner,W.A., Lawson,W.B., DePaulo,J.R. Jr., Gejman,P.V., Sanders,A.R., Johnson,J.K., Adams,P., Chaudhury,S., Jancic,D., Evgrafov,O., Zvinyatskovskiy,A., Ertman,N., Gladis,M., Neimanas,K., Goodell,M., Hale,N., Ney,N., Verma,R., Mirel,D., Holmans,P. and Levinson,D.F.
Journal Mol. Psychiatry 16 (2), 193-201 (2011)
Title Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene .
Author Ouechtati,F., Merdassi,A., Bouyacoub,Y., Largueche,L., Derouiche,K., Ouragini,H., Nouira,S., Tiab,L., Baklouti,K., Rebai,A., Schorderet,D.F., Munier,F.L., Zografos,L., Abdelhak,S. and El Matri,L.
Journal J. Hum. Genet. 56 (1), 22-28 (2011)
Title Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay .
Author Chen,C.K., Woodruff,M.L., Chen,F.S., Shim,H., Cilluffo,M.C. and Fain,G.L.
Journal J. Physiol. (Lond.) 588 (PT 17), 3231-3241 (2010)
Title Genetic etiology and clinical consequences of complete and incomplete achromatopsia .
Author Thiadens,A.A., Slingerland,N.W., Roosing,S., van Schooneveld,M.J., van Lith-Verhoeven,J.J., van Moll-Ramirez,N., van den Born,L.I., Hoyng,C.B., Cremers,F.P. and Klaver,C.C.
Journal Ophthalmology 116 (10), 1984-1989 (2009)
Title Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator .
Author Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and Ross,E.M.
Journal Cell 70 (3), 411-418 (1992)
Title Evolution of the mammalian G protein alpha subunit multigene family .
Author Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T., Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et al.
Journal Nat. Genet. 1 (2), 85-91 (1992)
Title 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 .
Author Arshavsky,V.Yu., Gray-Keller,M.P. and Bownds,M.D.
Journal J. Biol. Chem. 266 (28), 18530-18537 (1991)
Title Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope .
Author Mazzoni,M.R., Malinski,J.A. and Hamm,H.E.
Journal J. Biol. Chem. 266 (21), 14072-14081 (1991)
Title Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms .
Author Fawzi,A.B., Fay,D.S., Murphy,E.A., Tamir,H., Erdos,J.J. and Northup,J.K.
Journal J. Biol. Chem. 266 (19), 12194-12200 (1991)

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