GNAT2

GNAT2
Identifiers
Aliases	GNAT2,ACHM4, GNATC, G protein subunit Alpha transducin 2, HG1D
External IDs	OMIM:139340;MGI:95779;HomoloGene:21092;GeneCards:GNAT2;OMA:GNAT2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p13.3 Start 109,603,091bp End 109,619,929bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F2.3|3 46.83 cM Start 108,000,105bp End 108,008,748bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in oocyte gonad secondary oocyte testicle apex of heart monocyte islet of Langerhans stromal cell of endometrium blood granulocyte Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens pineal gland islet of Langerhans zygote primary oocyte embryo secondary oocyte embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding G-protein beta/gamma-subunit complex binding signal transducer activity metal ion binding G protein-coupled photoreceptor activity guanyl nucleotide binding G protein-coupled receptor binding GTPase activity GTP binding Cellular component photoreceptor inner segment plasma membrane photoreceptor outer segment heterotrimeric G-protein complex photoreceptor outer segment membrane Biological process response to stimulus adenylate cyclase-modulating G protein-coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration retinal cone cell development detection of chemical stimulus involved in sensory perception of bitter taste detection of light stimulus involved in visual perception response to light intensity signal transduction visual perception phototransduction Wnt signaling pathway, calcium modulating pathway protein folding G protein-coupled receptor signaling pathway Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 2780 14686 Ensembl ENSG00000134183 ENSMUSG00000009108 UniProt P19087 P50149 RefSeq (mRNA) NM_005272 NM_001377295 NM_001379232 NM_008141 RefSeq (protein) NP_005263 NP_001364224 NP_001366161 NP_032167 Location (UCSC) Chr 1: 109.6 – 109.62 Mb Chr 3: 108 – 108.01 Mb PubMedsearch
Wikidata
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Guanine nucleotide-binding protein G(t) subunit Alpha -2is aproteinthat in humans is encoded by theGNAT2gene.

Function

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling ofrhodopsinand cGMP-phosphodiesteraseduring visual impulses. The transducin Alpha subunits inrodsandconesare encoded by separate genes. This gene encodes the Alpha subunit in cones.

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.PMID1302014.S2CID31888533.
• 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.doi:10.1016/S0021-9258(18)55094-8.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.doi:10.1016/S0021-9258(18)92811-5.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.doi:10.1016/S0021-9258(18)98880-0.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.S2CID84445060.
• 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.PMID2534964.S2CID2870440.
• 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.Bibcode:1988PNAS...85.7642B.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.Bibcode:1987PNAS...84.7493B.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 Zasshi.68(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.Bibcode:2002PNAS...9916899M.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.

External links

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia