LOCUS       NM_001077653            1824 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens T-box transcription factor 20 (TBX20), transcript
            variant 1, mRNA.
ACCESSION   NM_001077653
VERSION     NM_001077653.2
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 1824)
  AUTHORS   Amor-Salamanca,A., Santana Rodriguez,A., Rasoul,H.,
            Rodriguez-Palomares,J.F., Moldovan,O., Hey,T.M., Delgado,M.G.,
            Cuenca,D.L., de Castro Campos,D., Basurte-Elorz,M.T.,
            Macias-Ruiz,R., Fuentes Canamero,M.E., Galvin,J., Bilbao
            Quesada,R., de la Higuera Romero,L., Trujillo-Quintero,J.P.,
            Garcia-Cruz,L.M., Cardenas-Reyes,I., Jimenez-Jaimez,J.,
            Garcia-Hernandez,S., Valverde-Gomez,M., Gomez-Diaz,I., Limeres
            Freire,J., Garcia-Pinilla,J.M., Gimeno-Blanes,J.R., Savattis,K.,
            Garcia-Pavia,P. and Ochoa,J.P.
  TITLE     Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and
            Left Ventricular Noncompaction
  JOURNAL   Circ Genom Precis Med 17 (2), e004404 (2024)
   PUBMED   38353104
  REMARK    GeneRIF: Role of TBX20 Truncating Variants in Dilated
            Cardiomyopathy and Left Ventricular Noncompaction.
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Chang,Y., Wacker,J., Ingles,J., Macciocca,I., King,I.,
            Semsarian,C., McGaughran,J., Weintraub,R.G. and Bagnall,R.D.
  CONSRTM   Australian Genomics Cardiovascular Disorders Flagship
  TITLE     TBX20 loss-of-function variants in families with left ventricular
            non-compaction cardiomyopathy
  JOURNAL   J Med Genet 61 (2), 171-175 (2024)
   PUBMED   37657916
  REMARK    GeneRIF: TBX20 loss-of-function variants in families with left
            ventricular non-compaction cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1824)
  AUTHORS   Gao,X., Pang,S., Ding,L., Yan,H., Cui,Y. and Yan,B.
  TITLE     Genetic and functional variants of the TBX20 gene promoter in
            dilated cardiomyopathy
  JOURNAL   Mol Genet Genomic Med 12 (1), e2355 (2024)
   PUBMED   38284443
  REMARK    GeneRIF: Genetic and functional variants of the TBX20 gene promoter
            in dilated cardiomyopathy.
REFERENCE   4  (bases 1 to 1824)
  AUTHORS   Garcia-Flores,E., Calderon-Colmenero,J., Borgonio-Cuadra,V.M.,
            Sandoval,J.P., Garcia-Montes,J.A., Cazarin-Santos,B.G.,
            Miranda-Duarte,A., Gamboa-Dominguez,A., Rodriguez-Perez,J.M. and
            Perez-Hernandez,N.
  TITLE     Epigenetic Evaluation of the TBX20 Gene and Environmental Risk
            Factors in Mexican Paediatric Patients with Congenital Septal
            Defects
  JOURNAL   Cells 12 (4), 586 (2023)
   PUBMED   36831251
  REMARK    GeneRIF: Epigenetic Evaluation of the TBX20 Gene and Environmental
            Risk Factors in Mexican Paediatric Patients with Congenital Septal
            Defects.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1824)
  AUTHORS   Tang,Y., Aryal,S., Geng,X., Zhou,X., Fast,V.G., Zhang,J., Lu,R. and
            Zhou,Y.
  TITLE     TBX20 Improves Contractility and Mitochondrial Function During
            Direct Human Cardiac Reprogramming
  JOURNAL   Circulation 146 (20), 1518-1536 (2022)
   PUBMED   36102189
  REMARK    GeneRIF: TBX20 Improves Contractility and Mitochondrial Function
            During Direct Human Cardiac Reprogramming.
REFERENCE   6  (bases 1 to 1824)
  AUTHORS   Liu,C., Shen,A., Li,X., Jiao,W., Zhang,X. and Li,Z.
  TITLE     T-box transcription factor TBX20 mutations in Chinese patients with
            congenital heart disease
  JOURNAL   Eur J Med Genet 51 (6), 580-587 (2008)
   PUBMED   18834961
  REMARK    GeneRIF: findings provide the first insight into TBX20 mutations
            for tetrology of fallot and anomalous pulmonary venous connection
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1824)
  AUTHORS   Hammer,S., Toenjes,M., Lange,M., Fischer,J.J., Dunkel,I., Mebus,S.,
            Grimm,C.H., Hetzer,R., Berger,F. and Sperling,S.
  TITLE     Characterization of TBX20 in human hearts and its regulation by
            TFAP2
  JOURNAL   J Cell Biochem 104 (3), 1022-1033 (2008)
   PUBMED   18275040
  REMARK    GeneRIF: analysis of TBX20 in human hearts and its regulation by
            TFAP2
REFERENCE   8  (bases 1 to 1824)
  AUTHORS   Kirk,E.P., Sunde,M., Costa,M.W., Rankin,S.A., Wolstein,O.,
            Castro,M.L., Butler,T.L., Hyun,C., Guo,G., Otway,R., Mackay,J.P.,
            Waddell,L.B., Cole,A.D., Hayward,C., Keogh,A., Macdonald,P.,
            Griffiths,L., Fatkin,D., Sholler,G.F., Zorn,A.M., Feneley,M.P.,
            Winlaw,D.S. and Harvey,R.P.
  TITLE     Mutations in cardiac T-box factor gene TBX20 are associated with
            diverse cardiac pathologies, including defects of septation and
            valvulogenesis and cardiomyopathy
  JOURNAL   Am J Hum Genet 81 (2), 280-291 (2007)
   PUBMED   17668378
  REMARK    GeneRIF: Our findings are the first to link TBX20 mutations to
            human pathology
REFERENCE   9  (bases 1 to 1824)
  AUTHORS   Stennard,F.A., Costa,M.W., Elliott,D.A., Rankin,S., Haast,S.J.,
            Lai,D., McDonald,L.P., Niederreither,K., Dolle,P., Bruneau,B.G.,
            Zorn,A.M. and Harvey,R.P.
  TITLE     Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4,
            and GATA5 in regulation of gene expression in the developing heart
  JOURNAL   Dev Biol 262 (2), 206-224 (2003)
   PUBMED   14550786
REFERENCE   10 (bases 1 to 1824)
  AUTHORS   Meins,M., Henderson,D.J., Bhattacharya,S.S. and Sowden,J.C.
  TITLE     Characterization of the human TBX20 gene, a new member of the T-Box
            gene family closely related to the Drosophila H15 gene
  JOURNAL   Genomics 67 (3), 317-332 (2000)
   PUBMED   10936053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009531.11, DQ986374.1 and
            AC005826.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 15, 2009 this sequence version replaced NM_001077653.1.
            
            Summary: This gene encodes a T-box family member. The T-box family
            members share a common DNA binding domain, termed the T-box, and
            they are transcription factors involved in the regulation of
            developmental processes. This gene is essential for heart
            development. Mutations in this gene are associated with diverse
            cardiac pathologies, including defects in septation, valvulogenesis
            and cardiomyopathy. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: DQ986374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267760, SAMN03568912
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000408931.4/ ENSP00000386170.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-519               AC009531.11        39498-40016         c
            520-1793            DQ986374.1         567-1840
            1794-1824           AC005826.1         100536-100566       c
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.2"
     gene            1..1824
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="T-box transcription factor 20"
                     /db_xref="GeneID:57057"
                     /db_xref="HGNC:HGNC:11598"
                     /db_xref="MIM:606061"
     exon            1..607
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             481..1824
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="isoform 1 is encoded by transcript variant 1; T-box
                     protein 20; T-box transcription factor TBX20; T-box 20"
                     /codon_start=1
                     /product="T-box transcription factor TBX20 isoform 1"
                     /protein_id="NP_001071121.1"
                     /db_xref="CCDS:CCDS43568.1"
                     /db_xref="GeneID:57057"
                     /db_xref="HGNC:HGNC:11598"
                     /db_xref="MIM:606061"
                     /translation="MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQ
                     FVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIAC
                     SLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
                     RYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGH
                     IILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLK
                     IDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNR
                     GSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSR
                     LGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV"
     exon            608..860
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1025
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1134
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1293
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1370
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1483
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..1824
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gctcactgtc cgtagttccg cgccgcgctc cccacgccag cgtcctagca gccgcgctcg
       61 gctggtggcc acctcagcct gggacatccc ggctgtcccc agccccagag ggaggaagga
      121 cgcggagggg atgctccagg accccaggac tttgtgcagt tgatgctcgt ttccgccttc
      181 gggctgtgca gactgtcgtc ctgccgagcg ccccggggcg tgcgcacccg ccgtagtgct
      241 cggtgggccc tctcctctcc ggctgccttc gaagtctctg cggctctggg gctttgcggt
      301 ggggaataga ggccagtgtg cagctctgga gtcgttggag ctgacacttc tggagtccct
      361 ggccccgctg tgactgctct cggaaacttt gagctgtgtt tcgggtcttt gtctcccttg
      421 gggaatctgg acggcagttc ggacgacccc gtccctggcc aggaccgcgt gctggggacc
      481 atggagttca cggcgtcccc caagccccaa ctctcctctc gggccaacgc cttctccatt
      541 gccgcgctca tgtcgagcgg cggctctaag gagaaggagg cgacggagaa cacaatcaaa
      601 cccctggagc aatttgtgga gaagtcgtcc tgtgcccagc ccctgggtga gctgaccagc
      661 ctggatgctc atggggagtt tggtggaggc agtggcagca gcccgtcctc ctcctctctg
      721 tgcactgagc cactgatccc caccaccccc atcatcccca gtgaggaaat ggccaaaatt
      781 gcctgcagcc tggagaccaa ggagctttgg gacaaattcc atgagctggg caccgagatg
      841 atcatcacca agtcgggcag gaggatgttt ccaaccatcc gggtgtcctt ttcgggggtg
      901 gatcctgagg ccaagtacat agtcctgatg gacatcgtcc ctgtggacaa caagaggtac
      961 cgctacgcct accaccggtc ctcctggctg gtggctggca aggccgaccc gccgttgcca
     1021 gccaggctct atgtgcatcc agattctcct tttaccggtg agcaactact caaacagatg
     1081 gtgtcttttg aaaaggtgaa actcaccaac aatgaactgg atcaacatgg ccatataatt
     1141 ttgaactcaa tgcataagta ccagccaagg gtgcacatca ttaagaagaa agaccacaca
     1201 gcctcattgc tcaacctgaa gtctgaagaa tttagaactt tcatctttcc agaaacagtt
     1261 tttacggcag tcactgccta ccagaatcaa ctgataacga agctgaaaat agatagcaat
     1321 ccttttgcca aaggattccg ggattcctcc aggctcactg acattgagag ggaaagtgtg
     1381 gagagcctga ttcaaaagca ttcctatgca cgctcaccca tccgtaccta cggaggagaa
     1441 gaagatgtct tgggggatga gagtcagaca accccaaatc gagggtcagc ctttacaaca
     1501 tctgataatt tgtctctcag ctcctgggta tcatcttctt ccagttttcc tgggtttcag
     1561 cacccacagt ccctgactgc tcttggcacc agcacagcat ccatagcaac acccattcct
     1621 caccccatcc agggttctct gccaccatat agccgactgg gaatgcctct gacaccatcg
     1681 gccattgcca gctccatgca agggagtggc cccacattcc cttcattcca catgccgcga
     1741 taccatcact attttcagca ggggccctat gctgccattc aaggactacg ccattcctct
     1801 gctgtgatga cgccatttgt atga
//
