LOCUS       NM_001321120            3394 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens T-box transcription factor 4 (TBX4), transcript
            variant 1, mRNA.
ACCESSION   NM_001321120 XM_005257837
VERSION     NM_001321120.2
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 3394)
  AUTHORS   Neves da Silva,H.V., Weinman,J.P., Englund,E.K., Deterding,R.R.,
            Ivy,D.D. and Browne,L.P.
  TITLE     Computed tomographic findings in TBX4 mutation: a common cause of
            severe pulmonary artery hypertension in children
  JOURNAL   Pediatr Radiol 54 (2), 199-207 (2024)
   PUBMED   38191808
  REMARK    GeneRIF: Computed tomographic findings in TBX4 mutation: a common
            cause of severe pulmonary artery hypertension in children.
            Review article
REFERENCE   2  (bases 1 to 3394)
  AUTHORS   Doughty,E.S., Norvik,C., Levin,A., Bodmer,J., Tran-Lundmark,K.,
            Abman,S.H. and Galambos,C.
  TITLE     Long-Term Effect of TBX4 Germline Mutation on Pulmonary
            Clinico-Histopathologic Phenotype
  JOURNAL   Pediatr Dev Pathol 27 (1), 83-89 (2024)
   PUBMED   37801629
  REMARK    GeneRIF: Long-Term Effect of TBX4 Germline Mutation on Pulmonary
            Clinico-Histopathologic Phenotype.
REFERENCE   3  (bases 1 to 3394)
  AUTHORS   Bianco,A.M., Ragusa,G., Di Carlo,V., Faletra,F., Di Stazio,M.,
            Racano,C., Trisolino,G., Cappellani,S., De Pellegrin,M.,
            d'Addetta,I., Carluccio,G., Monforte,S., Andreacchio,A., Dibello,D.
            and d'Adamo,A.P.
  TITLE     What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot
            Development? An Italian Study
  JOURNAL   Genes (Basel) 13 (11), 1958 (2022)
   PUBMED   36360195
  REMARK    GeneRIF: What Is the Exact Contribution of PITX1 and TBX4 Genes in
            Clubfoot Development? An Italian Study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3394)
  AUTHORS   Li,P., Lan,W., Li,J., Zhang,Y., Xiong,Q., Ye,J., Wu,C. and Xiao,H.
  TITLE     Identification and Functional Evaluation of a Novel TBX4 Mutation
            Underlies Small Patella Syndrome
  JOURNAL   Int J Mol Sci 23 (4), 2075 (2022)
   PUBMED   35216193
  REMARK    GeneRIF: Identification and Functional Evaluation of a Novel TBX4
            Mutation Underlies Small Patella Syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3394)
  AUTHORS   Karolak,J.A., Gambin,T., Szafranski,P. and Stankiewicz,P.
  TITLE     Potential interactions between the TBX4-FGF10 and SHH-FOXF1
            signaling during human lung development revealed using ChIP-seq
  JOURNAL   Respir Res 22 (1), 26 (2021)
   PUBMED   33478486
  REMARK    GeneRIF: Potential interactions between the TBX4-FGF10 and
            SHH-FOXF1 signaling during human lung development revealed using
            ChIP-seq.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3394)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (bases 1 to 3394)
  AUTHORS   Bongers,E.M., Duijf,P.H., van Beersum,S.E., Schoots,J., Van
            Kampen,A., Burckhardt,A., Hamel,B.C., Losan,F., Hoefsloot,L.H.,
            Yntema,H.G., Knoers,N.V. and van Bokhoven,H.
  TITLE     Mutations in the human TBX4 gene cause small patella syndrome
  JOURNAL   Am J Hum Genet 74 (6), 1239-1248 (2004)
   PUBMED   15106123
  REMARK    GeneRIF: Mutations in the human TBX4 gene cause small patella
            syndrome
REFERENCE   8  (bases 1 to 3394)
  AUTHORS   Yi,C.H., Russ,A. and Brook,J.D.
  TITLE     Virtual cloning and physical mapping of a human T-box gene, TBX4
  JOURNAL   Genomics 67 (1), 92-95 (2000)
   PUBMED   10945475
REFERENCE   9  (bases 1 to 3394)
  AUTHORS   Simon,H.
  TITLE     T-box genes and the formation of vertebrate forelimb- and hindlimb
            specific pattern
  JOURNAL   Cell Tissue Res 296 (1), 57-66 (1999)
   PUBMED   10199965
  REMARK    Review article
REFERENCE   10 (bases 1 to 3394)
  AUTHORS   Austin,E.D., Phillips,J.A. III and Loyd,J.E.
  TITLE     Heritable Pulmonary Arterial Hypertension Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC142620.1 and CA428890.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 8, 2018 this sequence version replaced NM_001321120.1.
            
            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 the human homolog of mouse
            Tbx4, which is closely linked to Tbx2 on mouse chromosome 11.
            Similarly this gene, like TBX2, maps to human chromosome 17.
            Expression studies in mouse and chicken show that Tbx4 is expressed
            in developing hindlimb, but not in forelimb buds, suggesting a role
            for this gene in regulating limb development and specification of
            limb identity. [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 :: BC142620.1, DRR138524.89576.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644296.1/ ENSP00000495986.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1937              BC142620.1         5-1941
            1938-3251           BC142620.1         1944-3257
            3252-3394           CA428890.1         17-159              c
FEATURES             Location/Qualifiers
     source          1..3394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.2"
     gene            1..3394
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /note="T-box transcription factor 4"
                     /db_xref="GeneID:9496"
                     /db_xref="HGNC:HGNC:11603"
                     /db_xref="MIM:601719"
     exon            1..156
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            157..345
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..1800
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /note="isoform 1 is encoded by transcript variant 1; T-box
                     transcription factor TBX4; T-box protein 4; T-box 4"
                     /codon_start=1
                     /product="T-box transcription factor TBX4 isoform 1"
                     /protein_id="NP_001308049.1"
                     /db_xref="CCDS:CCDS82180.1"
                     /db_xref="GeneID:9496"
                     /db_xref="HGNC:HGNC:11603"
                     /db_xref="MIM:601719"
                     /translation="MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAAL
                     GSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKV
                     KVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH
                     WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHV
                     FPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMR
                     QRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFY
                     HCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREA
                     CMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTAT
                     TMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPS
                     PHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG"
     exon            346..440
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            441..560
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            561..708
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            709..861
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            862..950
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1180
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..3394
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3370..3375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /note="hexamer: CATAAA"
     polyA_site      3394
                     /gene="TBX4"
                     /gene_synonym="ICPPS; PAPPAS; SPS"
                     /note="major polyA site"
ORIGIN      
        1 agagccggga tgtgtccagc cccgagggca cggcaggcag ctggaccctg acccagcggc
       61 gcggagtcgg agccccggcc gtcccgcgct cctcggaccc gaacctgcag gggacctcgg
      121 gccgctggcg cctccgcatg cggcaccgca attagggaga tgctgcagga taagggcctg
      181 tccgagagcg aggaggcctt ccgggccccg ggcccagcgc tcggagaggc cagcgcagcc
      241 aacgcccccg agcccgcgct ggcagcgccg ggcctcagcg gagccgcgct aggcagcccc
      301 ccgggacccg gggccgacgt cgtcgccgcc gccgccgcgg agcagaccat cgagaacatc
      361 aaggtggggc tgcatgagaa ggagctctgg aagaagttcc acgaggcggg caccgagatg
      421 atcatcacta aggctggcag gaggatgttc cccagctaca aggtaaaagt cacaggcatg
      481 aaccccaaga ccaagtatat cctgctgatt gacattgtcc ctgccgatga ccatcgctac
      541 aagttctgtg acaacaaatg gatggtggca gggaaggctg agccagccat gccaggaagg
      601 ctgtatgtcc acccggattc tcctgccaca ggagcccact ggatgcggca gctggtctcc
      661 ttccagaagc tgaagctgac aaacaaccac ctggacccct ttggccatat catcctcaac
      721 tctatgcaca agtaccagcc gcggctccac atcgttaagg ctgatgagaa caatgctttc
      781 ggctccaaaa acactgcttt ctgcacccac gtgttcccag agacctcctt catctctgtg
      841 acctcctacc agaatcacaa gatcacccag ctgaaaattg agaacaaccc ttttgccaag
      901 ggattccggg gcagtgatga cagtgacctg cgtgtggccc gactgcagag caaagaatac
      961 cccgtgattt ccaaaagcat catgaggcag aggctcatct ccccccagct ctcagccaca
     1021 ccggacgtgg gccccctgct cggcacccac caggcactcc agcactacca gcacgagaac
     1081 ggggcacact cacagctcgc ggagccgcag gacctgcccc tcagcacctt tcccacccag
     1141 agggactcaa gcctcttcta tcactgcctg aaaagacgag cagacggtac ccgccacctg
     1201 gacttacctt gcaagcgatc ctatctggaa gccccctctt cggtggggga ggatcactat
     1261 ttccgttccc cccctcccta cgaccagcaa atgctgagcc cctcctactg cagtgaggtg
     1321 acccccagag aagcatgtat gtactcaggt tcagggcccg agattgccgg ggtgtctggg
     1381 gtggacgacc tgcccccacc tccgctgagc tgtaacatgt ggacttcagt gtcgccgtac
     1441 accagctata gcgtgcagac gatggagact gtgccgtacc agcccttccc cacgcacttc
     1501 accgccacca ccatgatgcc gcggctgccc accctctccg ctcagagctc ccagccacca
     1561 ggaaatgccc actttagtgt ctacaatcag ctctcccagt ctcaggtccg agagcggggg
     1621 cccagcgcct cattcccaag agagcgcggc ctcccccaag ggtgtgagag gaagccaccc
     1681 tcgccacatc taaatgctgc caatgagttt ctctactctc aaaccttctc cttgtcccga
     1741 gaatcttcct tacagtacca ttcaggaatg gggactgtgg agaactggac tgacggatga
     1801 ctctcacgtc tcctccatag ccccgggacc gtgttgctcc agtattaacc tctgtgggtg
     1861 gcctgcactc taccaagaaa cacaggaagg tattccagtg tgtgtgtgtg tgtgtgtgtg
     1921 tgtgtgtgtg tgtgtgtata cacgagcatg tatgtatttg gagagcatcc atcttctgac
     1981 atacaactga ggtcatgaca aggaaaaaaa acaccacatt tatctaagaa gtgattttgg
     2041 ctgcaggacc tgggtctatt gttatctgac atctcttgac atgcccgtgg gtgggatggg
     2101 agtggagggt tcatatgagt tattgagagg gttttataat ggttgattta ctcaggggcc
     2161 aggtggggag ttctctccca tggggaaaga ttctcactgc tggggtggga agattctcgc
     2221 tgctggggtg tgaggactct gtgcacacct tagagttcct ggccttctct ttgcaagggg
     2281 agctgagaat ctggttttgg tagcaggagg cccactcctt tgacttctgg agagtctgtg
     2341 agactgcctg agaggtgggc tcagctaagc cacaatgtgt actttgatag tacagctggc
     2401 tgctcagtga gtggcctaga cattgatgac tggagctctg aggtctgagg gatgacgttc
     2461 ggaaagggtc atgggctaaa tgtcacctga ggggtatttt taaagggttt ttttttccct
     2521 tcaagaggag ggaaaatgca accagtagca tctctgtcat cattcagatt ttgtaataaa
     2581 gtacagagcc cttcccccta ggtccccaac atacagtctc tcactctggt gtgtggagag
     2641 tcagcctccc aggcaccata ccatctgcat cctatgatga tgggcaatta tgaaacacgc
     2701 ctcagctggc atcatcccca ggaggccaca ctggagctga tgtctggcat ctccagggcc
     2761 tgttctgctc tcagaaaatc tacgcttctg gagcgagaaa ggccaacaga aataaagata
     2821 gttgaaaaaa atttgtttct tccagtaaat tcagccggtg agctcagagg agcaaagaga
     2881 attctccagt gtggcgctca caaagtcctc agccctgcgt tttagcattg aataccacca
     2941 ggccatcagt gtggctgggg tgaactctcc atcaaacttg ggaaatcact aaactctttg
     3001 catgctgaat agctatttat atattatata aataaataaa tatatatatt atatatcgct
     3061 ctctctcaca aatgcaggcc acatgtcaaa ttcagctttg ctttctacaa atgaatgaac
     3121 ttaataaaaa taaacgttgg agggggtatt tggaaagaca tctatttaaa tttttattac
     3181 atgtttgata ttaaaaacta agaatggttt agataaaaca tataaataaa tatatatata
     3241 tatatatata tatataaaca cacacacact acagataagg cttttttaga aaacacatta
     3301 gctaacaggt gatatggaac ttcaagtgtt ttgttatata gcatggatgt tttattttgc
     3361 atatcggaac ataaagccat tttacaactg tgaa
//
