LOCUS       NM_004608               1843 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens T-box transcription factor 6 (TBX6), mRNA.
ACCESSION   NM_004608
VERSION     NM_004608.4
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 1843)
  AUTHORS   Li,G., Strong,A., Wang,H., Kim,J.S., Watson,D., Zhao,S.,
            Vaccaro,C., Hartung,E., Hakonarson,H., Zhang,T.J., Giampietro,P.F.
            and Wu,N.
  TITLE     TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
  JOURNAL   Am J Med Genet A 188 (12), 3469-3481 (2022)
   PUBMED   36161696
  REMARK    GeneRIF: TBX6 as a cause of a combined skeletal-kidney dysplasia
            syndrome.
REFERENCE   2  (bases 1 to 1843)
  AUTHORS   Ma,C., Chen,N., Jolly,A., Zhao,S., Coban-Akdemir,Z., Tian,W.,
            Kang,J., Ye,Y., Wang,Y., Koch,A., Zhang,Y., Qin,C., Bonilla,X.,
            Borel,C., Rall,K., Chen,Z., Jhangiani,S., Niu,Y., Li,X., Qiu,G.,
            Zhang,S., Luo,G., Wu,Z., Bacopoulou,F., Deligeoroglou,E.,
            Zhang,T.J., Rosenberg,C., Gibbs,R.A., Dietrich,J.E., Dimas,A.S.,
            Liu,P., Antonarakis,S.E., Brucker,S.Y., Posey,J.E., Lupski,J.R.,
            Wu,N. and Zhu,L.
  CONSRTM   Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO)
            Study Group
  TITLE     Functional characteristics of a broad spectrum of TBX6 variants in
            Mayer-Rokitansky-Kuster-Hauser syndrome
  JOURNAL   Genet Med 24 (11), 2262-2273 (2022)
   PUBMED   36112137
  REMARK    GeneRIF: Functional characteristics of a broad spectrum of TBX6
            variants in Mayer-Rokitansky-Kuster-Hauser syndrome.
REFERENCE   3  (bases 1 to 1843)
  AUTHORS   Errichiello,E., Arossa,A., Iasci,A., Villa,R., Ischia,B.,
            Pavesi,M.A., Rizzuti,T., Bedeschi,M.F. and Zuffardi,O.
  TITLE     An additional piece in the TBX6 gene dosage model: A novel nonsense
            variant in a fetus with severe spondylocostal dysostosis
  JOURNAL   Clin Genet 98 (6), 628-629 (2020)
   PUBMED   33058178
  REMARK    GeneRIF: An additional piece in the TBX6 gene dosage model: A novel
            nonsense variant in a fetus with severe spondylocostal dysostosis.
REFERENCE   4  (bases 1 to 1843)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1843)
  AUTHORS   Ghebranious,N., Blank,R.D., Raggio,C.L., Staubli,J., McPherson,E.,
            Ivacic,L., Rasmussen,K., Jacobsen,F.S., Faciszewski,T.,
            Burmester,J.K., Pauli,R.M., Boachie-Adjei,O., Glurich,I. and
            Giampietro,P.F.
  TITLE     A missense T (Brachyury) mutation contributes to vertebral
            malformations
  JOURNAL   J Bone Miner Res 23 (10), 1576-1583 (2008)
   PUBMED   18466071
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1843)
  AUTHORS   Farin,H.F., Bussen,M., Schmidt,M.K., Singh,M.K.,
            Schuster-Gossler,K. and Kispert,A.
  TITLE     Transcriptional repression by the T-box proteins Tbx18 and Tbx15
            depends on Groucho corepressors
  JOURNAL   J Biol Chem 282 (35), 25748-25759 (2007)
   PUBMED   17584735
  REMARK    GeneRIF: Tbx18 interacts with Gata4 and Nkx2-5 and competes
            Tbx5-mediated activation of the cardiac Natriuretic peptide
            precursor type a-promoter. Tbx18 down-regulates Tbx6-activated
            Delta-like 1 expression in the somitic mesoderm in vivo
REFERENCE   7  (bases 1 to 1843)
  AUTHORS   Papapetrou,C., Putt,W., Fox,M. and Edwards,Y.H.
  TITLE     The human TBX6 gene: cloning and assignment to chromosome 16p11.2
  JOURNAL   Genomics 55 (2), 238-241 (1999)
   PUBMED   9933572
REFERENCE   8  (bases 1 to 1843)
  AUTHORS   Yi,C.H., Terrett,J.A., Li,Q.Y., Ellington,K., Packham,E.A.,
            Armstrong-Buisseret,L., McClure,P., Slingsby,T. and Brook,J.D.
  TITLE     Identification, mapping, and phylogenomic analysis of four new
            human members of the T-box gene family: EOMES, TBX6, TBX18, and
            TBX19
  JOURNAL   Genomics 55 (1), 10-20 (1999)
   PUBMED   9888994
REFERENCE   9  (bases 1 to 1843)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301771
REFERENCE   10 (bases 1 to 1843)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012645.7 and BC026031.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 4, 2020 this sequence version replaced NM_004608.3.
            
            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. Knockout studies in mice indicate that
            this gene is important for specification of paraxial mesoderm
            structures. [provided by RefSeq, Aug 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 :: BC026031.1, ERR3456259.237594.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395224.7/ ENSP00000378650.2
            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
            1-40                AC012645.7         29252-29291         c
            41-1843             BC026031.1         1-1803
FEATURES             Location/Qualifiers
     source          1..1843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1843
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /note="T-box transcription factor 6"
                     /db_xref="GeneID:6911"
                     /db_xref="HGNC:HGNC:11605"
                     /db_xref="MIM:602427"
     exon            1..52
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            53..218
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1411
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /note="T-box protein 6; T-box 6"
                     /codon_start=1
                     /product="T-box transcription factor TBX6"
                     /protein_id="NP_004599.2"
                     /db_xref="CCDS:CCDS10670.1"
                     /db_xref="GeneID:6911"
                     /db_xref="HGNC:HGNC:11605"
                     /db_xref="MIM:602427"
                     /translation="MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTP
                     KLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPSAPEALHSLPGVSLSLENRELWK
                     EFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEP
                     SGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLILHSMHKYQP
                     RIHLVRAAQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGR
                     NCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIRESDPEQAPAPGEAT
                     AAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHG
                     SGGSGYPAAPPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY"
     exon            219..453
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            454..721
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            722..868
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            869..939
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1013
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1197
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1843
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1811..1816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /note="hexamer: AATAAA"
     polyA_site      1843
                     /gene="TBX6"
                     /gene_synonym="SCDO5"
                     /note="major polyA site"
ORIGIN      
        1 agcgcgggac cttcgggaaa ccctggcgcg aggcgtcaga agctgtcgga ctcaccgggg
       61 gccctaagca gcgagacctg aggccagacg gaactacaac atgtaccatc cacgagaatt
      121 gtacccgtcc ctgggggccg gctaccgcct ggggcccgcc caacctgggg ccgactccag
      181 cttcccaccc gccctagcgg agggctaccg ctaccccgaa ctggacaccc ctaaactgga
      241 ttgcttcctc tccgggatgg aggctgctcc ccgcaccctg gccgcgcacc cacctctgcc
      301 ccttctgccc cctgccatgg gcactgagcc ggccccatca gctccagagg ccctccattc
      361 cctcccgggg gtcagcctga gcctggagaa ccgggagcta tggaaggagt tcagctctgt
      421 gggaacagaa atgatcatca ccaaagctgg gaggcgcatg ttccctgcct gccgagtgtc
      481 agtcactggc ctggaccccg aggcccgcta cttgtttctt ctggatgtga ttccggtgga
      541 tggggctcgc taccgctggc agggccggcg ctgggagccc agcggcaagg cagagccccg
      601 cctgcctgac cgtgtctaca ttcaccccga ctctcctgcc actggtgcac attggatgcg
      661 gcagcctgtg tctttccatc gtgtcaagct caccaacagc acgctggacc cccacggcca
      721 cctgatcctg cactccatgc acaagtacca accccgcata cacctagttc gggcagccca
      781 gctctgcagc cagcactggg ggggcatggc ctccttccgc ttccccgaga ccacattcat
      841 ctccgtgaca gcctaccaga acccacagat cacacaactg aagattgcag ccaatccctt
      901 tgccaaaggc ttccgggaga acggcagaaa ctgtaagagg gagcgagacg cccgtgtgaa
      961 gaggaaactg cggggcccag agccagcagc cacagaggcc tatgggagcg gagacacacc
     1021 aggtggtccc tgcgactcca ccctgggtgg agacattcgt gaatcagatc cagaacaggc
     1081 cccagccccc ggggaagcca ccgctgcccc ggcacctctg tgtggtggcc ccagtgctga
     1141 ggcctacctc ctgcaccctg cggctttcca tggggccccc agtcaccttc ccaccaggag
     1201 ccccagcttc ccggaggctc cagactccgg gcgctcagcc ccctactcgg ctgcatttct
     1261 ggagctgccg cacgggtcag ggggctccgg gtacccagcg gctccaccgg cggtaccctt
     1321 tgccccgcac tttctccaag ggggcccctt ccctctacca tacaccgcgc ctgggggcta
     1381 tctggatgtg ggctccaaac ccatgtactg aaccactgct gggcccctct gcctccatca
     1441 caaacctccc gctcccttcc cccagccctg gagccccctc acctccaccg gccccatccc
     1501 ccacaccaaa tggccgcctt gggcctgccc acccaccccc tcaacttcac accttgattt
     1561 cactcccacc cccctctggc ttcaaagcct aaccaaggct gctgggagtc cagctggggc
     1621 cggcttcccc ttcccggctc tcacctccgt gtgaatggaa ggggctctgc ctggccaaat
     1681 ggggccacag accagcatcc ccacttacca ggcctcccca tgggctctgg aggggctcaa
     1741 tccccacccc cccacacaca ctggtgcagg ccacaccagt ctgttgttct gggaccagag
     1801 tatttttgtt aataaaactc aaaagccatc catgctcagg aaa
//
