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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005272 Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_005272.3, 109148540
Length 1384 bp
Structure linear
Update Date 03-MAY-2014
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(171)-c, adbSNP:373698555
complement(182)-t, cdbSNP:2304355
complement(227)-g, adbSNP:199503029
complement(228)-g, cdbSNP:372507125
complement(352)-dbSNP:
complement(352)-t, cdbSNP:146606352
complement(355)-t, cdbSNP:200725841
complement(358)-t, cdbSNP:201659866
complement(360)-g, adbSNP:146945932
complement(391)-dbSNP:
complement(391)-t, cdbSNP:372515497
complement(415)-g, cdbSNP:369218401
448+c, tdbSNP:121434585
complement(456)-g, adbSNP:200316722
complement(459)-t, cdbSNP:192176115
complement(465)-t, gdbSNP:371604259
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
532+a, cdbSNP: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(740)-dbSNP:
complement(740)-t, cdbSNP:374210835
759+a, gdbSNP:1799875
complement(759)-t, cdbSNP:386545556
761+a, gdbSNP:1799940
complement(763)-t, cdbSNP:201798524
complement(767)-g, adbSNP:370869387
complement(783)-g, adbSNP:376412882
complement(831)-dbSNP:
complement(831)-g, adbSNP:140231308
complement(832)-g, cdbSNP:267597907
complement(885)-g, adbSNP:201230566
complement(927)-g, adbSNP:367863835
complement(928)-t, cdbSNP:140788789
complement(938)-dbSNP:
complement(938)-t, cdbSNP:142609327
complement(946)-t, cdbSNP:147849105
complement(1023)-g, cdbSNP:191211731
complement(1031)-t, adbSNP:368906691
complement(1077)-t, cdbSNP:374829286
complement(1083)-g, adbSNP:373436662
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(1151)-t, cdbSNP:368195234
complement(1179)-g, cdbSNP:139314029
complement(1270)-g, adbSNP:61754627
complement(1312)-g, cdbSNP:374343837
complement(1328)-g, cdbSNP:116688317
Gene SymbolGNAT2
Gene SynonymACHM4; GNATC
Chromosome1
Locus Map1p13.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005272 Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. On-demand $549.00 14
Title Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America .
Author Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D and Young TL.
Journal Ophthalmic Genet. 34 (3), 119-129 (2013)
Title Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture .
Author Berndt SI, Gustafsson S, Magi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson A, Johnson T, Kanoni S, Kleber ME, Konig IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Muller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrieres J, Franke L, Frau F, Gejman PV, Grallert H, Gronberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hypponen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kahonen M, Kathiresan S, Kee F, Khaw KT, Kivimaki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindstrom J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, Marz W, Mateo Leach I, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Muhleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Putter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stancakova A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van der Klauw MM, van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widen E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jockel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimaki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njolstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sorensen TI, Spector TD, Stefansson K, Tonjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O'Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ and Ingelsson E.
Journal Nat. Genet. 45 (5), 501-512 (2013)
Title Clinical utility gene card for: achromatopsia .
Author Kohl S and Hamel CP.
Journal Eur. J. Hum. Genet. 19 (6) (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 DF, Munier FL, 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 CK, Woodruff ML, Chen FS, Shim H, Cilluffo MC and Fain GL.
Journal J. Physiol. (Lond.) 588 (PT 17), 3231-3241 (2010)
Title Achromatopsia .
Author Kohl,S., Jagle,H. and Wissinger,B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator .
Author Berstein G, Blank JL, Jhon DY, Exton JH, Rhee SG and Ross EM.
Journal Cell 70 (3), 411-418 (1992)
Title Evolution of the mammalian G protein alpha subunit multigene family .
Author Wilkie TM, Gilbert DJ, Olsen AS, Chen XN, Amatruda TT, Korenberg JR, Trask BJ, de Jong P, Reed RR and Simon MI.
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 VYu, Gray-Keller MP and Bownds MD.
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 MR, Malinski JA and Hamm HE.
Journal J. Biol. Chem. 266 (21), 14072-14081 (1991)

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