LOCUS       NM_181486               3733 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens T-box transcription factor 5 (TBX5), transcript
            variant 4, mRNA.
ACCESSION   NM_181486
VERSION     NM_181486.4
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 3733)
  AUTHORS   Ma,R., Hu,K., Dai,S. and Wang,Y.
  TITLE     Overexpression of transcription factor TBX5 inhibits the activation
            of YAP1-TEAD1 pathway to promote ferroptosis in lung cancer cells
  JOURNAL   Biochem Biophys Res Commun 718, 150037 (2024)
   PUBMED   38735135
  REMARK    GeneRIF: Overexpression of transcription factor TBX5 inhibits the
            activation of YAP1-TEAD1 pathway to promote ferroptosis in lung
            cancer cells.
REFERENCE   2  (bases 1 to 3733)
  AUTHORS   Moller Nielsen,A.K., Dehn,A.M., Hjortdal,V. and Larsen,L.A.
  TITLE     TBX5 variants and cardiac phenotype: A systematic review of the
            literature and a novel variant
  JOURNAL   Eur J Med Genet 68, 104920 (2024)
   PUBMED   38336121
  REMARK    GeneRIF: TBX5 variants and cardiac phenotype: A systematic review
            of the literature and a novel variant.
            Review article
REFERENCE   3  (bases 1 to 3733)
  AUTHORS   Rui,Y., Zhou,J., Zhen,X., Zhang,J., Liu,S. and Gao,Y.
  TITLE     TBX5 genetic variants and SCD-CAD susceptibility: insights from
            Chinese Han cohorts
  JOURNAL   PeerJ 12, e17139 (2024)
   PUBMED   38525280
  REMARK    GeneRIF: TBX5 genetic variants and SCD-CAD susceptibility: insights
            from Chinese Han cohorts.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3733)
  AUTHORS   Pena-Martinez,E.G., Pomales-Matos,D.A., Rivera-Madera,A.,
            Messon-Bird,J.L., Medina-Feliciano,J.G., Sanabria-Alberto,L.,
            Barreiro-Rosario,A.C., Rivera-Del Valle,J., Rodriguez-Rios,J.M. and
            Rodriguez-Martinez,J.A.
  TITLE     Prioritizing cardiovascular disease-associated variants altering
            NKX2-5 and TBX5 binding through an integrative computational
            approach
  JOURNAL   J Biol Chem 299 (12), 105423 (2023)
   PUBMED   37926287
  REMARK    GeneRIF: Prioritizing cardiovascular disease-associated variants
            altering NKX2-5 and TBX5 binding through an integrative
            computational approach.
REFERENCE   5  (bases 1 to 3733)
  AUTHORS   Wei,W., Mu,H., Cui,Q., Yu,P., Liu,T., Wang,T. and Sheng,L.
  TITLE     CircTBX5 knockdown modulates the miR-558/MyD88 axis to alleviate
            IL-1beta-induced inflammation, apoptosis and extracellular matrix
            degradation in chondrocytes via inactivating the NF-kappaB
            signaling
  JOURNAL   J Orthop Surg Res 18 (1), 477 (2023)
   PUBMED   37393232
  REMARK    GeneRIF: CircTBX5 knockdown modulates the miR-558/MyD88 axis to
            alleviate IL-1beta-induced inflammation, apoptosis and
            extracellular matrix degradation in chondrocytes via inactivating
            the NF-kappaB signaling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3733)
  AUTHORS   Basson,C.T., Huang,T., Lin,R.C., Bachinsky,D.R., Weremowicz,S.,
            Vaglio,A., Bruzzone,R., Quadrelli,R., Lerone,M., Romeo,G.,
            Silengo,M., Pereira,A., Krieger,J., Mesquita,S.F., Kamisago,M.,
            Morton,C.C., Pierpont,M.E., Muller,C.W., Seidman,J.G. and
            Seidman,C.E.
  TITLE     Different TBX5 interactions in heart and limb defined by Holt-Oram
            syndrome mutations
  JOURNAL   Proc Natl Acad Sci U S A 96 (6), 2919-2924 (1999)
   PUBMED   10077612
REFERENCE   7  (bases 1 to 3733)
  AUTHORS   Basson,C.T., Bachinsky,D.R., Lin,R.C., Levi,T., Elkins,J.A.,
            Soults,J., Grayzel,D., Kroumpouzou,E., Traill,T.A.,
            Leblanc-Straceski,J., Renault,B., Kucherlapati,R., Seidman,J.G. and
            Seidman,C.E.
  TITLE     Mutations in human TBX5 [corrected] cause limb and cardiac
            malformation in Holt-Oram syndrome
  JOURNAL   Nat Genet 15 (1), 30-35 (1997)
   PUBMED   8988165
  REMARK    Erratum:[Nat Genet 1997 Apr;15(4):411]
REFERENCE   8  (bases 1 to 3733)
  AUTHORS   Li,Q.Y., Newbury-Ecob,R.A., Terrett,J.A., Wilson,D.I., Curtis,A.R.,
            Yi,C.H., Gebuhr,T., Bullen,P.J., Robson,S.C., Strachan,T.,
            Bonnet,D., Lyonnet,S., Young,I.D., Raeburn,J.A., Buckler,A.J.,
            Law,D.J. and Brook,J.D.
  TITLE     Holt-Oram syndrome is caused by mutations in TBX5, a member of the
            Brachyury (T) gene family
  JOURNAL   Nat Genet 15 (1), 21-29 (1997)
   PUBMED   8988164
REFERENCE   9  (bases 1 to 3733)
  AUTHORS   Terrett,J.A., Newbury-Ecob,R., Cross,G.S., Fenton,I., Raeburn,J.A.,
            Young,I.D. and Brook,J.D.
  TITLE     Holt-Oram syndrome is a genetically heterogeneous disease with one
            locus mapping to human chromosome 12q
  JOURNAL   Nat Genet 6 (4), 401-404 (1994)
   PUBMED   8054982
REFERENCE   10 (bases 1 to 3733)
  AUTHORS   McDermott,D.A., Fong,J.C. and Basson,C.T.
  TITLE     Holt-Oram Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301290
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB960757.1, BC027942.1 and
            AC009260.13.
            
            On Dec 2, 2019 this sequence version replaced NM_181486.3.
            
            Summary: This gene is a member of a phylogenetically conserved
            family of genes that share a common DNA-binding domain, the T-box.
            T-box genes encode transcription factors involved in the regulation
            of developmental processes. This gene is closely linked to related
            family member T-box 3 (ulnar mammary syndrome) on human chromosome
            12. The encoded protein may play a role in heart development and
            specification of limb identity. Mutations in this gene have been
            associated with Holt-Oram syndrome, a developmental disorder
            affecting the heart and upper limbs. Several transcript variants
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1 and 4 both encode the same isoform (1).
            
            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 :: BC027942.1, AK290611.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000405440.7/ ENSP00000384152.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                CB960757.1         47-106
            61-2208             BC027942.1         1-2148
            2209-3497           AC009260.13        47346-48634         c
            3498-3714           BC027942.1         3437-3653
            3715-3733           AC009260.13        47110-47128         c
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.21"
     gene            1..3733
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="T-box transcription factor 5"
                     /db_xref="GeneID:6910"
                     /db_xref="HGNC:HGNC:11604"
                     /db_xref="MIM:601620"
     exon            1..517
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            518..702
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     CDS             556..2112
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="isoform 1 is encoded by transcript variant 4; T-box
                     transcription factor TBX5; T-box protein 5; T-box 5"
                     /codon_start=1
                     /product="T-box transcription factor TBX5 isoform 1"
                     /protein_id="NP_852259.1"
                     /db_xref="CCDS:CCDS9173.1"
                     /db_xref="GeneID:6910"
                     /db_xref="HGNC:HGNC:11604"
                     /db_xref="MIM:601620"
                     /translation="MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQA
                     AFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYIL
                     LMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKL
                     TNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQ
                     NHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSS
                     ESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTT
                     DHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPS
                     LEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQL
                     GEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYSHGVPRTLSPHQYHSVHGV
                     GMVPEWSDNS"
     exon            703..797
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            798..917
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1065
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1218
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1310
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1537
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..3733
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3047..3052
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="hexamer: ATTAAA"
     polyA_site      3076
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="major polyA site"
     regulatory      3688..3693
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="hexamer: AATAAA"
     regulatory      3707..3712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="hexamer: AACAAG"
     polyA_site      3714
                     /gene="TBX5"
                     /gene_synonym="HOS"
     polyA_site      3733
                     /gene="TBX5"
                     /gene_synonym="HOS"
                     /note="major polyA site"
ORIGIN      
        1 agtactttgt gagcatcgag gcaacccaac gtcactgtgc tcagctgagt tggcttgtat
       61 ttcagagaga gagagagagg gagagagagt gagagagact gactcttacc tcgaatccgg
      121 gaactttaat cctgaaagct gcgctcagaa aggacttcga ccattcactg ggcttccaac
      181 tttccctccc tgggggtgta aaggaggagc ggggcactga gattatatgg ttgccggtgc
      241 tcttggaggc tattttgtgt tctttggcgc ttgccaactg ggaagtattt agggagagca
      301 agcgcacagc agaggaggtg tgtgttggag gtgggcagtc gccgcggagg ctccagcggt
      361 aggtgcgccc tagtaggcag cagtagccgc tattctgggt aagcagtaaa ccccgcataa
      421 accccggagc caccatgcct gctcccccgc ctcaccgccg gcttccctgc taggagcagc
      481 agaggatgtg gtgaatgcac cggcttcacc gaacgagagc agaaccttgc gcgggcacag
      541 ggccctgggc gcaccatggc cgacgcagac gagggctttg gcctggcgca cacgcctctg
      601 gagcctgacg caaaagacct gccctgcgat tcgaaacccg agagcgcgct cggggccccc
      661 agcaagtccc cgtcgtcccc gcaggccgcc ttcacccagc agggcatgga gggaatcaaa
      721 gtgtttctcc atgaaagaga actgtggcta aaattccacg aagtgggcac ggaaatgatc
      781 ataaccaagg ctggaaggcg gatgtttccc agttacaaag tgaaggtgac gggccttaat
      841 cccaaaacga agtacattct tctcatggac attgtacctg ccgacgatca cagatacaaa
      901 ttcgcagata ataaatggtc tgtgacgggc aaagctgagc ccgccatgcc tggccgcctg
      961 tacgtgcacc cagactcccc cgccaccggg gcgcattgga tgaggcagct cgtctccttc
     1021 cagaaactca agctcaccaa caaccacctg gacccatttg ggcatattat tctaaattcc
     1081 atgcacaaat accagcctag attacacatc gtgaaagcgg atgaaaataa tggatttggc
     1141 tcaaaaaata cagcgttctg cactcacgtc tttcctgaga ctgcgtttat agcagtgact
     1201 tcctaccaga accacaagat cacgcaatta aagattgaga ataatccctt tgccaaagga
     1261 tttcggggca gtgatgacat ggagctgcac agaatgtcaa gaatgcaaag taaagaatat
     1321 cccgtggtcc ccaggagcac cgtgaggcaa aaagtggcct ccaaccacag tcctttcagc
     1381 agcgagtctc gagctctctc cacctcatcc aatttggggt cccaatacca gtgtgagaat
     1441 ggtgtttccg gcccctccca ggacctcctg cctccaccca acccataccc actgccccag
     1501 gagcatagcc aaatttacca ttgtaccaag aggaaagagg aagaatgttc caccacagac
     1561 catccctata agaagcccta catggagaca tcacccagtg aagaagattc cttctaccgc
     1621 tctagctatc cacagcagca gggcctgggt gcctcctaca ggacagagtc ggcacagcgg
     1681 caagcttgca tgtatgccag ctctgcgccc cccagcgagc ctgtgcccag cctagaggac
     1741 atcagctgca acacgtggcc aagcatgcct tcctacagca gctgcaccgt caccaccgtg
     1801 cagcccatgg acaggctacc ctaccagcac ttctccgctc acttcacctc ggggcccctg
     1861 gtccctcggc tggctggcat ggccaaccat ggctccccac agctgggaga gggaatgttc
     1921 cagcaccaga cctccgtggc ccaccagcct gtggtcaggc agtgtgggcc tcagactggc
     1981 ctgcagtccc ctggcaccct tcagccccct gagttcctct actctcatgg cgtgccaagg
     2041 actctatccc ctcatcagta ccactctgtg cacggagttg gcatggtgcc agagtggagc
     2101 gacaatagct aaagtgaggc ctgcttcaca acagacattt cctagagaaa gagagagaga
     2161 gaggagaaag agagagaagg agagagacag tagccaagag aaccccacgg acaagatttt
     2221 tcatttcacc caatgttcac atctgcactc aaggtcgctg gatgctgatc taatcagtag
     2281 cttgaaacca caattttaaa aatgtgactt tcttgttttg tctcaaaact taaaaaaaca
     2341 aacacaaaaa gatgagtccc accccccact accaccacac ccatcaacca gccacattca
     2401 cgctactccc cagatctctt cccccattcc ttcttttggg ctctagaaag tcttgcctca
     2461 ttgagtgttt ttccctagtg cgtagttgga gtctgtccct gtcttggtgt taatgttgac
     2521 attgttatat aataaatgat aatatatttt tttctttcaa ttttcttaat gggacccagt
     2581 cccttatttg gggggaggtc tgaggcaagt atatttcaaa atatgtactt gcgggattcc
     2641 cttcaagtaa accatccctg aaacctaaat tcacgtttcc ccttgactaa gaaaagcacc
     2701 tacctctgcc atgtgatgtt tctgaaaagc ctctgtatgt ccccatttgc tttggttttg
     2761 tcctgccttc tccaatatca cgtgctcagt tttgcctcta cttacccatg gagtcaggat
     2821 aacactgacg ctccctggca tcctatctta ttcagcccta ccatcttgcc agctctgtct
     2881 ttccagctgt ctgtcgctaa aacgtggcct atagcttccc ttccggaaag cttgctttga
     2941 aaaacttaaa aagcccccgt ttacatgtag gcaggactgt gataacagtg caagctctgt
     3001 gttgacaaga gttgtggaca aaaagccaaa ataaatattc ttcctgatta aaaaaatttt
     3061 ttttgaaaaa aacaaggcca gccccaacct tccaaacctc catcaccaac aacccaaact
     3121 ggatgtcaag caaaatgcac aattcctaca gaagaggcaa gacacagtca ccaatgatat
     3181 ctcgccaaag aaaccacgcc cacaccaatg ccaacacaaa actgtgttta ctgaaagccg
     3241 aaaacagtat taaaaaaagt gtgtaagtaa agtgttatgg tagggttctt cagatgtaat
     3301 attttactgg tactatttat ttataaatag gaattctaat taagtaataa catgaaatga
     3361 aacccagcat aggagctggc caagagcttt taattttatt gatactcaaa accaagtttg
     3421 tgtttttttg tttttttttg tttttttcct ctttcgaatg tgctttgctt tttttgatta
     3481 aaaagaattt tttttttcct tttttataaa cagaccctaa taaagagaac agggtaagat
     3541 gtgaggctga gtgtgtttaa gtacgtgaga gagtgtgagt gtgtttgtaa gtgagtgtcc
     3601 ctatgcgatt atgtctcttt acgttgctaa ggggggaggg tgaggattaa gtactcgtgc
     3661 cttatatttg tgtgccaatt aatgcctaat aaataccatg tgcttaaaca agtacaagga
     3721 agttgaacac cca
//
