LOCUS       NM_001308093            3419 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens GATA binding protein 4 (GATA4), transcript variant 1,
            mRNA.
ACCESSION   NM_001308093 XM_005272384 XM_017013312
VERSION     NM_001308093.3
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 3419)
  AUTHORS   Imam,R., Aizezi,M., Yan,F., Zhu,T. and Zhang,W.
  TITLE     Sequence variations in GATA4 and CITED2 gene among patients with
            cardiac septation defects from Xinjiang, China
  JOURNAL   Cardiol Young 34 (7), 1506-1513 (2024)
   PUBMED   38456293
  REMARK    GeneRIF: Sequence variations in GATA4 and CITED2 gene among
            patients with cardiac septation defects from Xinjiang, China.
REFERENCE   2  (bases 1 to 3419)
  AUTHORS   Yang,Y., Song,S., Li,S., Kang,J., Li,Y., Zhao,N., Ye,D., Qin,F.,
            Du,Y., Sun,J., Yu,T. and Wu,H.
  TITLE     GATA4 regulates the transcription of MMP9 to suppress the invasion
            and migration of breast cancer cells via HDAC1-mediated p65
            deacetylation
  JOURNAL   Cell Death Dis 15 (4), 289 (2024)
   PUBMED   38653973
  REMARK    GeneRIF: GATA4 regulates the transcription of MMP9 to suppress the
            invasion and migration of breast cancer cells via HDAC1-mediated
            p65 deacetylation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3419)
  AUTHORS   Kuga,T., Chiba,A., Murayama,G., Hosomi,K., Nakagawa,T., Yahagi,Y.,
            Noto,D., Kusaoi,M., Kawano,F., Yamaji,K., Tamura,N. and Miyake,S.
  TITLE     Enhanced GATA4 expression in senescent systemic lupus erythematosus
            monocytes promotes high levels of IFNalpha production
  JOURNAL   Front Immunol 15, 1320444 (2024)
   PUBMED   38605949
  REMARK    GeneRIF: Enhanced GATA4 expression in senescent systemic lupus
            erythematosus monocytes promotes high levels of IFNalpha
            production.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3419)
  AUTHORS   Dvorak,O., Slavickova,M., Laco,J., Stepan,M., Cermakova,E. and
            Spacek,J.
  TITLE     DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81
            and NTRK1 in endometrial hyperplasia
  JOURNAL   Ceska Gynekol 89 (4), 261-268 (2024)
   PUBMED   39242200
  REMARK    GeneRIF: DNA hypermethylation of tumor suppressor genes TWIST1,
            GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
REFERENCE   5  (bases 1 to 3419)
  AUTHORS   Lourenco,D., Brauner,R., Rybczynska,M., Nihoul-Fekete,C.,
            McElreavey,K. and Bashamboo,A.
  TITLE     Loss-of-function mutation in GATA4 causes anomalies of human
            testicular development
  JOURNAL   Proc Natl Acad Sci U S A 108 (4), 1597-1602 (2011)
   PUBMED   21220346
  REMARK    GeneRIF: Data demonstrate the key role of GATA4 in human testicular
            development.
REFERENCE   6  (bases 1 to 3419)
  AUTHORS   Garg,V., Kathiriya,I.S., Barnes,R., Schluterman,M.K., King,I.N.,
            Butler,C.A., Rothrock,C.R., Eapen,R.S., Hirayama-Yamada,K., Joo,K.,
            Matsuoka,R., Cohen,J.C. and Srivastava,D.
  TITLE     GATA4 mutations cause human congenital heart defects and reveal an
            interaction with TBX5
  JOURNAL   Nature 424 (6947), 443-447 (2003)
   PUBMED   12845333
  REMARK    GeneRIF: results implicate GATA4 as a genetic cause of human
            cardiac septal defects, perhaps through its interaction with TBX5
REFERENCE   7  (bases 1 to 3419)
  AUTHORS   White,R.A., Dowler,L.L., Pasztor,L.M., Gatson,L.L., Adkison,L.R.,
            Angeloni,S.V. and Wilson,D.B.
  TITLE     Assignment of the transcription factor GATA4 gene to human
            chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for
            Ds (disorganization)
  JOURNAL   Genomics 27 (1), 20-26 (1995)
   PUBMED   7665171
REFERENCE   8  (bases 1 to 3419)
  AUTHORS   Huang,W.Y., Cukerman,E. and Liew,C.C.
  TITLE     Identification of a GATA motif in the cardiac alpha-myosin
            heavy-chain-encoding gene and isolation of a human GATA-4 cDNA
  JOURNAL   Gene 155 (2), 219-223 (1995)
   PUBMED   7721094
REFERENCE   9  (bases 1 to 3419)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   10 (bases 1 to 3419)
  AUTHORS   Evans,T., Reitman,M. and Felsenfeld,G.
  TITLE     An erythrocyte-specific DNA-binding factor recognizes a regulatory
            sequence common to all chicken globin genes
  JOURNAL   Proc Natl Acad Sci U S A 85 (16), 5976-5980 (1988)
   PUBMED   3413070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090790.4, BC143479.1 and
            AC069185.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Jan 15, 2020 this sequence version replaced
            XM_017013312.2, NM_001308093.2.
            
            Summary: This gene encodes a member of the GATA family of
            zinc-finger transcription factors. Members of this family recognize
            the GATA motif which is present in the promoters of many genes.
            This protein is thought to regulate genes involved in embryogenesis
            and in myocardial differentiation and function, and is necessary
            for normal testicular development. Mutations in this gene have been
            associated with cardiac septal defects. Additionally, alterations
            in gene expression have been associated with several cancer types.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2015].
            
            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 :: SRR14038193.2257221.1,
                                           SRR14038191.722180.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000532059.6/ ENSP00000435712.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               AC090790.4         16947-17049         c
            104-480             AC090790.4         13019-13395         c
            481-1939            BC143479.1         1-1459
            1940-3419           AC069185.7         82440-83919
FEATURES             Location/Qualifiers
     source          1..3419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..3419
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="GATA binding protein 4"
                     /db_xref="GeneID:2626"
                     /db_xref="HGNC:HGNC:4173"
                     /db_xref="MIM:600576"
     exon            1..103
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     exon            104..1176
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             561..1892
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transcription factor GATA-4; GATA-binding factor 4"
                     /codon_start=1
                     /product="transcription factor GATA-4 isoform 1"
                     /protein_id="NP_001295022.1"
                     /db_xref="CCDS:CCDS78303.1"
                     /db_xref="GeneID:2626"
                     /db_xref="HGNC:HGNC:4173"
                     /db_xref="MIM:600576"
                     /translation="MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRV
                     PSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGPGTQQGSPGWSQAGADGAAYTPP
                     PVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
                     PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGREC
                     VNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQ
                     TTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAA
                     PSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSG
                     HGPSIHPVLSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA"
     exon            1177..1346
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1472
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1560
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1709
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..3419
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2570..2575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="hexamer: AATAAA"
     polyA_site      2603
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="major polyA site"
     regulatory      3394..3399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="hexamer: AATAAA"
     polyA_site      3419
                     /gene="GATA4"
                     /gene_synonym="ASD2; TACHD; TOF; VSD1"
                     /note="major polyA site"
ORIGIN      
        1 ggggacttgg aggcggccgg cgcaggggcc gcgagaggct tcgtcgccgc tgcagctccg
       61 ggggctccca ggggagcgtg cgcggaacct ccaggcccag caggaccccg gctgcggcga
      121 ggaggaagga gccagcctag cagcttctgc gcctgtggcc gcgggtgtcc tggaggcctc
      181 tcggtgtgac gagtggggga cccgaaggct cgtgcgccac ctccaggcct ggacgctgcc
      241 ctccgtcttc tgcccccaat aggtgcgccg gaccttcagg ccctggggtg aattcagctg
      301 ctcctacatc agcttccgga accaccaaaa attcaaattg ggattttccg gagtaaacaa
      361 gagcctagag ccctttgctc aatgctggat ttaatacgta tatattttta agcgagttgg
      421 ttttttcccc tttgattttt gatcttcgcg acagttcctc ccacgcatat tatcgttgtt
      481 gccgtcgttt tctctccccg cgtggctcct tgacctgcga gggagagaga ggacaccgaa
      541 gccgggagct cgcagggacc atgtatcaga gcttggccat ggccgccaac cacgggccgc
      601 cccccggtgc ctacgaggcg ggcggccccg gcgccttcat gcacggcgcg ggcgccgcgt
      661 cctcgccagt ctacgtgccc acaccgcggg tgccctcctc cgtgctgggc ctgtcctacc
      721 tccagggcgg aggcgcgggc tctgcgtccg gaggcgcctc gggcggcagc tccggtgggg
      781 ccgcgtctgg tgcggggccc gggacccagc agggcagccc gggatggagc caggcgggag
      841 ccgacggagc cgcttacacc ccgccgccgg tgtcgccgcg cttctccttc ccggggacca
      901 ccgggtccct ggcggccgcc gccgccgctg ccgcggcccg ggaagctgcg gcctacagca
      961 gtggcggcgg agcggcgggt gcgggcctgg cgggccgcga gcagtacggg cgcgccggct
     1021 tcgcgggctc ctactccagc ccctacccgg cttacatggc cgacgtgggc gcgtcctggg
     1081 ccgcagccgc cgccgcctcc gccggcccct tcgacagccc ggtcctgcac agcctgcccg
     1141 gccgggccaa cccggccgcc cgacacccca atctcgtaga tatgtttgac gacttctcag
     1201 aaggcagaga gtgtgtcaac tgtggggcta tgtccacccc gctctggagg cgagatggga
     1261 cgggtcacta tctgtgcaac gcctgcggcc tctaccacaa gatgaacggc atcaaccggc
     1321 cgctcatcaa gcctcagcgc cggctgtccg cctcccgccg agtgggcctc tcctgtgcca
     1381 actgccagac caccaccacc acgctgtggc gccgcaatgc ggagggcgag cctgtgtgca
     1441 atgcctgcgg cctctacatg aagctccacg gggtccccag gcctcttgca atgcggaaag
     1501 aggggatcca aaccagaaaa cggaagccca agaacctgaa taaatctaag acaccagcag
     1561 ctccttcagg cagtgagagc cttcctcccg ccagcggtgc ttccagcaac tccagcaacg
     1621 ccaccaccag cagcagcgag gagatgcgtc ccatcaagac ggagcctggc ctgtcatctc
     1681 actacgggca cagcagctcc gtgtcccaga cgttctcagt cagtgcgatg tctggccatg
     1741 ggccctccat ccaccctgtc ctctcggccc tgaagctctc cccacaaggc tatgcgtctc
     1801 ccgtcagcca gtctccacag accagctcca agcaggactc ttggaacagc ctggtcttgg
     1861 ccgacagtca cggggacata atcactgcgt aatcttccct cttccctcct caaattcctg
     1921 cacggacctg ggacttggag gatagcaaag aaggaggccc tgggctccca ggggccggcc
     1981 tcctctgcct ggtaatgact ccagaacaac aactgggaag aaacttgaag tcgacaatct
     2041 ggttagggga agcgggtgtt ggattttctc agatgccttt acacgctgat gggactggag
     2101 ggagcccacc cttcagcacg agcacactgc atctctcctg tgagttggag acttctttcc
     2161 caagatgtcc ttgtcccctg cgttccccac tgtggcctag accgtgggtt ttgcattgtg
     2221 tttctagcac cgaggatctg agaacaagcg gagggccggg ccctgggacc cctgctccag
     2281 cccgaatgac ggcatctgtt tgccatgtac ctggatgcga cgggcccctg gggacaggcc
     2341 cttgccccat ccatccgctt gaggcatggc accgccctgc atccctaata ccaaatctga
     2401 ctccaaaatt gtggggtgtg acatacaagt gactgaacac ttcctgggga gctacagggg
     2461 cacttaaccc accacagcac agcctcatca aaatgcagct ggcaacttct cccccaggtg
     2521 ccttccccct gctgccggcc tttgctcctt cacttccaac atctctcaaa ataaaaatcc
     2581 ctcttcccgc tctgagcgat tcagctctgc ccgcagcttg tacatgtctc tcccctggca
     2641 aaacaagagc tgggtagttt agccaaacgg caccccctcg agttcactgc agacccttcg
     2701 ttcaccgtgt cacacataga ggggttctga gtaagaacaa aacgttctgc tgctcaagcc
     2761 agtctggcaa gcactcagcc cagcctcgag gtccttctgg ggagagtgta agtggacaga
     2821 gtcctggtca gggggcagga gtgtcccaag ggctggccca cctgctgtct gtctgctcct
     2881 cctagccctt ggtcagatgg cagccagagt ccctcaggac ctgcagcctc gccccggcag
     2941 aagtcttttg tccaggaggc aaaaagccag agattctgca acacgaattc gaagcaaaca
     3001 aacacaacac aacagaattc ctggaaagaa gacgactgct aagacacggc aggggggcct
     3061 ggagggagcc tccgactctg agctgctccg ggatctgccg cgttctcctc tgcacattgc
     3121 tgtttctgcc cctgatgctg gagctcaagg agactccttc ctctttctca gcagagctgt
     3181 agctgactgt ggcattacta cgcctcccca cacgcccaga cccctcactc caaaatccta
     3241 ctggctgtag cagagaatac ctttgaacca agattctgtt ttaatcatca tttacattgt
     3301 tttcttccaa aggccccctc gtataccctc cctaacccac aaacctgtta acattgtctt
     3361 aaggtgaaat ggctggaaaa tcagtattta actaataaat ttatctgtat tcctctttc
//
