GNAT2: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Guanine nucleotide-binding protein G(t) subunit alpha-2''' is a [[protein]] that in humans is encoded by the ''GNAT2'' [[gene]].<ref name="pmid8406495">{{cite journal |vauthors=Morris TA, Fong SL | title = Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2) | journal = Genomics | volume = 17 | issue = 2 | pages = 442–8 |date=Oct 1993 | pmid = 8406495 | pmc = | doi = 10.1006/geno.1993.1345 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2780| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
| HGNCid = 4394
| Symbol = GNAT2
| AltSymbols =; ACHM4; GNATC
| OMIM = 139340
| ECnumber = 
| Homologene = 21092
| MGIid = 95779
| GeneAtlas_image1 = PBB_GE_GNAT2_210604_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0008020 |text = G-protein coupled photoreceptor activity}}
| Component = {{GNF_GO|id=GO:0005834 |text = heterotrimeric G-protein complex}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007602 |text = phototransduction}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2780
    | Hs_Ensembl = ENSG00000134183
    | Hs_RefseqProtein = NP_005263
    | Hs_RefseqmRNA = NM_005272
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 109947298
    | Hs_GenLoc_end = 109957228
    | Hs_Uniprot = P19087
    | Mm_EntrezGene = 14686
    | Mm_Ensembl = ENSMUSG00000009108
    | Mm_RefseqmRNA = NM_008141
    | Mm_RefseqProtein = NP_032167
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 108221124
    | Mm_GenLoc_end = 108229485
    | Mm_Uniprot = Q8BSY7
  }}
}}
'''Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2''', also known as '''GNAT2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2780| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2780| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Wilkie TM, Gilbert DJ, Olsen AS |title=Evolution of the mammalian G protein alpha subunit multigene family |journal=Nat. Genet. |volume=1 |issue= 2 |pages= 85–91 |year= 1993 |pmid= 1302014 |doi= 10.1038/ng0592-85 |display-authors=etal}}
| citations =
*{{cite journal  |author1=Arshavsky VYu |author2=Gray-Keller MP |author3=Bownds MD |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 |journal=J. Biol. Chem. |volume=266 |issue= 28 |pages= 18530–7 |year= 1991 |pmid= 1655754 |doi=  }}
*{{cite journal  | author=Wilkie TM, Gilbert DJ, Olsen AS, ''et al.'' |title=Evolution of the mammalian G protein alpha subunit multigene family. |journal=Nat. Genet. |volume=1 |issue= 2 |pages= 85-91 |year= 1993 |pmid= 1302014 |doi= 10.1038/ng0592-85 }}
*{{cite journal  |vauthors=Mazzoni MR, Malinski JA, Hamm HE |title=Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope |journal=J. Biol. Chem. |volume=266 |issue= 21 |pages= 14072–81 |year= 1991 |pmid= 1713215 |doi=  }}
*{{cite journal  | author=Arshavsky VYu , Gray-Keller MP, Bownds MD |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. |journal=J. Biol. Chem. |volume=266 |issue= 28 |pages= 18530-7 |year= 1991 |pmid= 1655754 |doi=  }}
*{{cite journal  |vauthors=Fawzi AB, Fay DS, Murphy EA |title=Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms |journal=J. Biol. Chem. |volume=266 |issue= 19 |pages= 12194–200 |year= 1991 |pmid= 1905716 |doi=  |display-authors=etal}}
*{{cite journal  | author=Mazzoni MR, Malinski JA, Hamm HE |title=Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope. |journal=J. Biol. Chem. |volume=266 |issue= 21 |pages= 14072-81 |year= 1991 |pmid= 1713215 |doi=  }}
*{{cite journal  |vauthors=Kubo M, Hirano T, Kakinuma M |title=Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit |journal=FEBS Lett. |volume=291 |issue= 2 |pages= 245–8 |year= 1991 |pmid= 1936270 |doi=10.1016/0014-5793(91)81294-I }}
*{{cite journal  | author=Fawzi AB, Fay DS, Murphy EA, ''et al.'' |title=Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms. |journal=J. Biol. Chem. |volume=266 |issue= 19 |pages= 12194-200 |year= 1991 |pmid= 1905716 |doi=  }}
*{{cite journal  |vauthors=Lerea CL, Bunt-Milam AH, Hurley JB |title=Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina |journal=Neuron |volume=3 |issue= 3 |pages= 367–76 |year= 1990 |pmid= 2534964 |doi=10.1016/0896-6273(89)90261-4 }}
*{{cite journal  | author=Kubo M, Hirano T, Kakinuma M |title=Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. |journal=FEBS Lett. |volume=291 |issue= 2 |pages= 245-8 |year= 1991 |pmid= 1936270 |doi=  }}
*{{cite journal  |vauthors=Blatt C, Eversole-Cire P, Cohn VH |title=Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 20 |pages= 7642–6 |year= 1988 |pmid= 2902634 |doi=10.1073/pnas.85.20.7642  | pmc=282248 |display-authors=etal}}
*{{cite journal  | author=Lerea CL, Bunt-Milam AH, Hurley JB |title=Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. |journal=Neuron |volume=3 |issue= 3 |pages= 367-76 |year= 1990 |pmid= 2534964 |doi=  }}
*{{cite journal  |vauthors=Buss JE, Mumby SM, Casey PJ |title=Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 21 |pages= 7493–7 |year= 1987 |pmid= 3118369 |doi=10.1073/pnas.84.21.7493  | pmc=299322 |display-authors=etal}}
*{{cite journal  | author=Blatt C, Eversole-Cire P, Cohn VH, ''et al.'' |title=Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 20 |pages= 7642-6 |year= 1988 |pmid= 2902634 |doi=  }}
*{{cite journal  | author=Hirano T |title=[Analysis of cell specific transcription of the human cone transducin alpha subunit gene] |journal=Hokkaido Igaku Zasshi |volume=68 |issue= 6 |pages= 885–93 |year= 1994 |pmid= 8112713 |doi=  }}
*{{cite journal  | author=Buss JE, Mumby SM, Casey PJ, ''et al.'' |title=Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 21 |pages= 7493-7 |year= 1987 |pmid= 3118369 |doi=  }}
*{{cite journal  |vauthors=Morris TA, Fong WB, Ward MJ |title=Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2) |journal=Invest. Ophthalmol. Vis. Sci. |volume=38 |issue= 1 |pages= 196–206 |year= 1997 |pmid= 9008644 |doi=  |display-authors=etal}}
*{{cite journal  | author=Hirano T |title=[Analysis of cell specific transcription of the human cone transducin alpha subunit gene] |journal=Hokkaido Igaku Zasshi |volume=68 |issue= 6 |pages= 885-93 |year= 1994 |pmid= 8112713 |doi=  }}
*{{cite journal  |vauthors=Kohl S, Baumann B, Rosenberg T |title=Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia |journal=Am. J. Hum. Genet. |volume=71 |issue= 2 |pages= 422–5 |year= 2002 |pmid= 12077706 |doi=10.1086/341835  | pmc=379175 |display-authors=etal}}
*{{cite journal  | author=Morris TA, Fong SL |title=Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). |journal=Genomics |volume=17 |issue= 2 |pages= 442-8 |year= 1993 |pmid= 8406495 |doi= 10.1006/geno.1993.1345 }}
*{{cite journal  |vauthors=Aligianis IA, Forshew T, Johnson S |title=Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2) |journal=J. Med. Genet. |volume=39 |issue= 9 |pages= 656–60 |year= 2002 |pmid= 12205108 |doi=10.1136/jmg.39.9.656  | pmc=1735242 |display-authors=etal}}
*{{cite journal  | author=Morris TA, Fong WB, Ward MJ, ''et al.'' |title=Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2). |journal=Invest. Ophthalmol. Vis. Sci. |volume=38 |issue= 1 |pages= 196-206 |year= 1997 |pmid= 9008644 |doi=  }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Kohl S, Baumann B, Rosenberg T, ''et al.'' |title=Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. |journal=Am. J. Hum. Genet. |volume=71 |issue= 2 |pages= 422-5 |year= 2002 |pmid= 12077706 |doi=  }}
*{{cite journal  |vauthors=Piña AL, Baumert U, Loyer M, Koenekoop RK |title=A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene |journal=Mol. Vis. |volume=10 |issue=  |pages= 265–71 |year= 2004 |pmid= 15094710 |doi=  }}
*{{cite journal  | author=Aligianis IA, Forshew T, Johnson S, ''et al.'' |title=Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). |journal=J. Med. Genet. |volume=39 |issue= 9 |pages= 656-60 |year= 2002 |pmid= 12205108 |doi=  }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Rosenberg T, Baumann B, Kohl S |title=Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 12 |pages= 4256–62 |year= 2005 |pmid= 15557429 |doi= 10.1167/iovs.04-0317 |display-authors=etal}}
*{{cite journal  | author=Piña AL, Baumert U, Loyer M, Koenekoop RK |title=A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. |journal=Mol. Vis. |volume=10 |issue=  |pages= 265-71 |year= 2004 |pmid= 15094710 |doi=  }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Rosenberg T, Baumann B, Kohl S, ''et al.'' |title=Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 12 |pages= 4256-62 |year= 2005 |pmid= 15557429 |doi= 10.1167/iovs.04-0317 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achm  GeneReviews/NIH/NCBI/UW entry on Achromatopsia]
* [https://www.ncbi.nlm.nih.gov/omim/216900,139340,216900,262300,600053,600827,605080,613093,139340,216900,262300,600053,600827,605080,613093  OMIM entries on Achromatopsia]
 
{{Intracellular signaling peptides and proteins}}
{{GTPases}}
{{GTPases}}
{{WikiDoc Sources}}
 
 
{{gene-1-stub}}

Latest revision as of 08:51, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.[1][2]

Function

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.[2]

References

  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.
  2. ↑ 2.0 2.1 "Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2".

Further reading

External links


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