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 109,603,091 bp End 109,619,929 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F2.3|3 46.83 cM Start 108,000,105 bp End 108,008,748 bp
RNA expression pattern 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 PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.

Function

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phosphodiesterase during visual impulses. The transducin alpha subunits in rods and cones are 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. PMID 1302014. S2CID 31888533.
• 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. 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. doi:10.1016/S0021-9258(18)92811-5. 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. doi:10.1016/S0021-9258(18)98880-0. 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. S2CID 84445060.
• 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. S2CID 2870440.
• 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. 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. Bibcode:1987PNAS...84.7493B. 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. Bibcode:2002PNAS...9916899M. 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.

External links

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