LOCUS       NM_001377295            1515 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens G protein subunit alpha transducin 2 (GNAT2),
            transcript variant 2, mRNA.
ACCESSION   NM_001377295 XM_011541264
VERSION     NM_001377295.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1515)
  AUTHORS   Georgiou,M., Singh,N., Kane,T., Robson,A.G., Kalitzeos,A.,
            Hirji,N., Webster,A.R., Dubra,A., Carroll,J. and Michaelides,M.
  TITLE     Photoreceptor Structure in GNAT2-Associated Achromatopsia
  JOURNAL   Invest Ophthalmol Vis Sci 61 (3), 40 (2020)
   PUBMED   32203983
  REMARK    GeneRIF: The cone mosaic in GNAT2-ACHM (GNAT2-achromatopsia) is
            relatively well preserved, potentially allowing for a wide
            therapeutic window for cone-directed interventions.
REFERENCE   2  (bases 1 to 1515)
  AUTHORS   Felden,J., Baumann,B., Ali,M., Audo,I., Ayuso,C., Bocquet,B.,
            Casteels,I., Garcia-Sandoval,B., Jacobson,S.G., Jurklies,B.,
            Kellner,U., Kessel,L., Lorenz,B., McKibbin,M., Meunier,I., de
            Ravel,T., Rosenberg,T., Ruther,K., Vadala,M., Wissinger,B.,
            Stingl,K. and Kohl,S.
  TITLE     Mutation spectrum and clinical investigation of achromatopsia
            patients with mutations in the GNAT2 gene
  JOURNAL   Hum Mutat 40 (8), 1145-1155 (2019)
   PUBMED   31058429
  REMARK    GeneRIF: Study identified a total 22 different potentially
            Achromatopsia-causing variants, of which 12 are novel. The mutation
            spectrum also includes a novel copy number variation, a
            heterozygous duplication of exon 4, of which the breakpoint matches
            exactly that of the previously reported exon 4 deletion.
REFERENCE   3  (bases 1 to 1515)
  AUTHORS   Doucette,L., Green,J., Black,C., Schwartzentruber,J., Johnson,G.J.,
            Galutira,D. and Young,T.L.
  TITLE     Molecular genetics of achromatopsia in Newfoundland reveal genetic
            heterogeneity, founder effects and the first cases of Jalili
            syndrome in North America
  JOURNAL   Ophthalmic Genet 34 (3), 119-129 (2013)
   PUBMED   23362848
  REMARK    GeneRIF: The majority (n = 12) of patients were either homozygotes
            or compound heterozygotes for known achromatopsia alleles, two in
            CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q,
            p.R427C and p.L527R).
REFERENCE   4  (bases 1 to 1515)
  AUTHORS   Berndt,S.I., Gustafsson,S., Magi,R., Ganna,A., Wheeler,E.,
            Feitosa,M.F., Justice,A.E., Monda,K.L., Croteau-Chonka,D.C.,
            Day,F.R., Esko,T., Fall,T., Ferreira,T., Gentilini,D.,
            Jackson,A.U., Luan,J., Randall,J.C., Vedantam,S., Willer,C.J.,
            Winkler,T.W., Wood,A.R., Workalemahu,T., Hu,Y.J., Lee,S.H.,
            Liang,L., Lin,D.Y., Min,J.L., Neale,B.M., Thorleifsson,G., Yang,J.,
            Albrecht,E., Amin,N., Bragg-Gresham,J.L., Cadby,G., den Heijer,M.,
            Eklund,N., Fischer,K., Goel,A., Hottenga,J.J., Huffman,J.E.,
            Jarick,I., Johansson,A., Johnson,T., Kanoni,S., Kleber,M.E.,
            Konig,I.R., Kristiansson,K., Kutalik,Z., Lamina,C., Lecoeur,C.,
            Li,G., Mangino,M., McArdle,W.L., Medina-Gomez,C.,
            Muller-Nurasyid,M., Ngwa,J.S., Nolte,I.M., Paternoster,L.,
            Pechlivanis,S., Perola,M., Peters,M.J., Preuss,M., Rose,L.M.,
            Shi,J., Shungin,D., Smith,A.V., Strawbridge,R.J., Surakka,I.,
            Teumer,A., Trip,M.D., Tyrer,J., Van Vliet-Ostaptchouk,J.V.,
            Vandenput,L., Waite,L.L., Zhao,J.H., Absher,D., Asselbergs,F.W.,
            Atalay,M., Attwood,A.P., Balmforth,A.J., Basart,H., Beilby,J.,
            Bonnycastle,L.L., Brambilla,P., Bruinenberg,M., Campbell,H.,
            Chasman,D.I., Chines,P.S., Collins,F.S., Connell,J.M.,
            Cookson,W.O., de Faire,U., de Vegt,F., Dei,M., Dimitriou,M.,
            Edkins,S., Estrada,K., Evans,D.M., Farrall,M., Ferrario,M.M.,
            Ferrieres,J., Franke,L., Frau,F., Gejman,P.V., Grallert,H.,
            Gronberg,H., Gudnason,V., Hall,A.S., Hall,P., Hartikainen,A.L.,
            Hayward,C., Heard-Costa,N.L., Heath,A.C., Hebebrand,J., Homuth,G.,
            Hu,F.B., Hunt,S.E., Hypponen,E., Iribarren,C., Jacobs,K.B.,
            Jansson,J.O., Jula,A., Kahonen,M., Kathiresan,S., Kee,F.,
            Khaw,K.T., Kivimaki,M., Koenig,W., Kraja,A.T., Kumari,M.,
            Kuulasmaa,K., Kuusisto,J., Laitinen,J.H., Lakka,T.A.,
            Langenberg,C., Launer,L.J., Lind,L., Lindstrom,J., Liu,J.,
            Liuzzi,A., Lokki,M.L., Lorentzon,M., Madden,P.A., Magnusson,P.K.,
            Manunta,P., Marek,D., Marz,W., Mateo Leach,I., McKnight,B.,
            Medland,S.E., Mihailov,E., Milani,L., Montgomery,G.W., Mooser,V.,
            Muhleisen,T.W., Munroe,P.B., Musk,A.W., Narisu,N., Navis,G.,
            Nicholson,G., Nohr,E.A., Ong,K.K., Oostra,B.A., Palmer,C.N.,
            Palotie,A., Peden,J.F., Pedersen,N., Peters,A., Polasek,O.,
            Pouta,A., Pramstaller,P.P., Prokopenko,I., Putter,C.,
            Radhakrishnan,A., Raitakari,O., Rendon,A., Rivadeneira,F.,
            Rudan,I., Saaristo,T.E., Sambrook,J.G., Sanders,A.R., Sanna,S.,
            Saramies,J., Schipf,S., Schreiber,S., Schunkert,H., Shin,S.Y.,
            Signorini,S., Sinisalo,J., Skrobek,B., Soranzo,N., Stancakova,A.,
            Stark,K., Stephens,J.C., Stirrups,K., Stolk,R.P., Stumvoll,M.,
            Swift,A.J., Theodoraki,E.V., Thorand,B., Tregouet,D.A., Tremoli,E.,
            Van der Klauw,M.M., van Meurs,J.B., Vermeulen,S.H., Viikari,J.,
            Virtamo,J., Vitart,V., Waeber,G., Wang,Z., Widen,E., Wild,S.H.,
            Willemsen,G., Winkelmann,B.R., Witteman,J.C., Wolffenbuttel,B.H.,
            Wong,A., Wright,A.F., Zillikens,M.C., Amouyel,P., Boehm,B.O.,
            Boerwinkle,E., Boomsma,D.I., Caulfield,M.J., Chanock,S.J.,
            Cupples,L.A., Cusi,D., Dedoussis,G.V., Erdmann,J., Eriksson,J.G.,
            Franks,P.W., Froguel,P., Gieger,C., Gyllensten,U., Hamsten,A.,
            Harris,T.B., Hengstenberg,C., Hicks,A.A., Hingorani,A., Hinney,A.,
            Hofman,A., Hovingh,K.G., Hveem,K., Illig,T., Jarvelin,M.R.,
            Jockel,K.H., Keinanen-Kiukaanniemi,S.M., Kiemeney,L.A., Kuh,D.,
            Laakso,M., Lehtimaki,T., Levinson,D.F., Martin,N.G., Metspalu,A.,
            Morris,A.D., Nieminen,M.S., Njolstad,I., Ohlsson,C.,
            Oldehinkel,A.J., Ouwehand,W.H., Palmer,L.J., Penninx,B., Power,C.,
            Province,M.A., Psaty,B.M., Qi,L., Rauramaa,R., Ridker,P.M.,
            Ripatti,S., Salomaa,V., Samani,N.J., Snieder,H., Sorensen,T.I.,
            Spector,T.D., Stefansson,K., Tonjes,A., Tuomilehto,J.,
            Uitterlinden,A.G., Uusitupa,M., van der Harst,P., Vollenweider,P.,
            Wallaschofski,H., Wareham,N.J., Watkins,H., Wichmann,H.E.,
            Wilson,J.F., Abecasis,G.R., Assimes,T.L., Barroso,I., Boehnke,M.,
            Borecki,I.B., Deloukas,P., Fox,C.S., Frayling,T., Groop,L.C.,
            Haritunian,T., Heid,I.M., Hunter,D., Kaplan,R.C., Karpe,F.,
            Moffatt,M.F., Mohlke,K.L., O'Connell,J.R., Pawitan,Y., Schadt,E.E.,
            Schlessinger,D., Steinthorsdottir,V., Strachan,D.P.,
            Thorsteinsdottir,U., van Duijn,C.M., Visscher,P.M., Di Blasio,A.M.,
            Hirschhorn,J.N., Lindgren,C.M., Morris,A.P., Meyre,D., Scherag,A.,
            McCarthy,M.I., Speliotes,E.K., North,K.E., Loos,R.J. and
            Ingelsson,E.
  TITLE     Genome-wide meta-analysis identifies 11 new loci for anthropometric
            traits and provides insights into genetic architecture
  JOURNAL   Nat Genet 45 (5), 501-512 (2013)
   PUBMED   23563607
  REMARK    GeneRIF: Single nucleotide polymorphisms in GNAT2 gene is
            associated with obesity.
REFERENCE   5  (bases 1 to 1515)
  AUTHORS   Kohl,S. and Hamel,C.P.
  TITLE     Clinical utility gene card for: achromatopsia
  JOURNAL   Eur J Hum Genet 19 (6) (2011)
   PUBMED   21267001
  REMARK    GeneRIF: Missense mutations, nonsense mutations, splice mutations,
            and small deletions and insertions in the affected genes cause
            achromatopsia.
REFERENCE   6  (bases 1 to 1515)
  AUTHORS   Kohl,S., Jagle,H., Wissinger,B. and Zobor,D.
  TITLE     Achromatopsia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301591
REFERENCE   7  (bases 1 to 1515)
  AUTHORS   Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and
            Ross,E.M.
  TITLE     Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11,
            its physiologic regulator
  JOURNAL   Cell 70 (3), 411-418 (1992)
   PUBMED   1322796
REFERENCE   8  (bases 1 to 1515)
  AUTHORS   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.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
REFERENCE   9  (bases 1 to 1515)
  AUTHORS   Arshavsky,V.Yu., Gray-Keller,M.P. and Bownds,M.D.
  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 266 (28), 18530-18537 (1991)
   PUBMED   1655754
REFERENCE   10 (bases 1 to 1515)
  AUTHORS   Mazzoni,M.R., Malinski,J.A. and Hamm,H.E.
  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 266 (21), 14072-14081 (1991)
   PUBMED   1713215
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355310.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 28, 2020 this sequence version replaced NM_001377295.1.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.130247.1,
                                           SRR1163655.684157.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000679935.1/ ENSP00000505083.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-134               AL355310.20        80536-80669         c
            135-305             AL355310.20        73806-73976         c
            306-348             AL355310.20        71518-71560         c
            349-490             AL355310.20        71093-71234         c
            491-648             AL355310.20        69684-69841         c
            649-777             AL355310.20        67361-67489         c
            778-907             AL355310.20        67023-67152         c
            908-1061            AL355310.20        65004-65157         c
            1062-1515           AL355310.20        64144-64597         c
FEATURES             Location/Qualifiers
     source          1..1515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1515
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /note="G protein subunit alpha transducin 2"
                     /db_xref="GeneID:2780"
                     /db_xref="HGNC:HGNC:4394"
                     /db_xref="MIM:139340"
     exon            1..134
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            135..305
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..1252
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /note="transducin, cone-specific, alpha polypeptide;
                     cone-type transducin alpha subunit; transducin alpha-2
                     chain; guanine nucleotide binding protein (G protein),
                     alpha transducing activity polypeptide 2; heterotrimeric
                     guanine nucleotide-binding protein 1D"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(t) subunit
                     alpha-2"
                     /protein_id="NP_001364224.1"
                     /db_xref="CCDS:CCDS803.1"
                     /db_xref="GeneID:2780"
                     /db_xref="HGNC:HGNC:4394"
                     /db_xref="MIM:139340"
                     /translation="MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGES
                     GKSTIVKQMKIIHQDGYSPEECLEFKAIIYGNVLQSILAIIRAMTTLGIDYAEPSCAD
                     DGRQLNNLADSIEEGTMPPELVEVIRRLWKDGGVQACFERAAEYQLNDSASYYLNQLE
                     RITDPEYLPSEQDVLRSRVKTTGIIETKFSVKDLNFRMFDVGGQRSERKKWIHCFEGV
                     TCIIFCAALSAYDMVLVEDDEVNRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEE
                     KIKKVHLSICFPEYDGNNSYDDAGNYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKF
                     VFDAVTDIIIKENLKDCGLF"
     exon            306..348
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            349..490
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            491..648
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            649..777
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            778..907
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1061
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1515
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1493..1498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /note="hexamer: AATACA"
     polyA_site      1515
                     /gene="GNAT2"
                     /gene_synonym="ACHM4; GNATC; HG1D"
                     /note="major polyA site"
ORIGIN      
        1 cctttacaca gtgcctggca cgaagtgagg gcccagtgaa aggtagctgt tatcattgtc
       61 ccaggattca ttttaagcag aagtcctgcc cctgcaatct cacttggtcg tctgttttct
      121 tccggccggc gtaggaaacc ttacgagaga ggattagggg cctgaaaaag ctgacaagac
      181 ggcaaatatg ggaagtggag ccagtgctga ggacaaagaa ctggccaaga ggtccaagga
      241 gctagaaaag aagctgcagg aggatgctga taaggaagcc aagactgtca agctgctact
      301 gctgggtgct ggggagtcag gaaagagcac catcgtcaaa cagatgaaga tcattcacca
      361 ggatggctat tcaccagaag aatgcctgga gttcaaggct atcatctatg gaaatgtgct
      421 gcagtccatc ctggctatca tccgggccat gaccacactg ggcatcgatt atgctgaacc
      481 aagctgtgcg gatgacgggc gacagctcaa caacctggct gactccattg aggagggaac
      541 catgcctcct gagctcgtgg aggtcattag gaggttgtgg aaggatggtg gggtgcaagc
      601 ctgcttcgag agagctgcag aataccagct taatgactcc gcatcttact acctgaacca
      661 attagaacga attacagacc ctgagtacct ccctagtgag caagatgtgc tccgatccag
      721 agtcaaaacc acgggcatca ttgaaaccaa gttttccgtc aaagacttga atttcaggat
      781 gtttgatgtg ggagggcaga gatccgagag aaagaagtgg atccactgct tcgagggagt
      841 cacctgcatc attttctgtg cagccctcag tgcctatgat atggtgctgg tggaagatga
      901 cgaagtgaat cgtatgcatg agtctttgca tctgttcaac agcatatgta accacaaatt
      961 ctttgcggct acttccattg tcctctttct caacaagaag gacctctttg aggaaaaaat
     1021 caagaaagtc catctcagca tttgttttcc agagtatgat ggtaacaact cctatgatga
     1081 tgcggggaat tacataaaga gccagttcct tgacctcaat atgcgaaaag atgtcaaaga
     1141 aatctacagt cacatgacct gtgctacaga tacacagaat gtcaaatttg tgtttgatgc
     1201 agttacagat attatcatca aagaaaacct caaggactgc ggcctcttct aatcctcacc
     1261 attcctcagg tataagttct ataaacaggc ttggaatctg ggtaattaaa aacagaaaat
     1321 tatagtcaat ataccatgac atgaagaatg aatccattct ttggagatgg agtatacatg
     1381 actgcaactg tatttcatac gttcttttca aagtgggata gctattgcag cttaaagagc
     1441 acaggccagt agttagaaga ccccccaggt tccagtactg gttttccaac ttaatacaaa
     1501 actgtgaata cttta
//
