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Gene Ontology Classifications
T-box 5

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Tbx5. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of March 6, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
  1. Agarwal P et al. (2003) Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo. Development, 130:623-33. (PubMed:12490567)
  2. Boogerd KJ et al. (2008) Msx1 and Msx2 are functional interacting partners of T-box factors in the regulation of Connexin43. Cardiovasc Res, 78:485-93. (PubMed:18285513)
  3. Bruneau BG et al. (2001) A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell, 106:709-21. (PubMed:11572777)
  4. Cebra-Thomas JA et al. (2003) T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung. Dev Dyn, 226:82-90. (PubMed:12508227)
  5. Ghosh TK et al. (2001) Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Genet, 10:1983-94. (PubMed:11555635)
  6. Hiroi Y et al. (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet, 28:276-80. (PubMed:11431700)
  7. Ieda M et al. (2010) Direct reprogramming of fibroblasts into functional cardiomyocytes by defined factors. Cell, 142:375-86. (PubMed:20691899)
  8. Koshiba-Takeuchi K et al. (2006) Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet, 38:175-183. (PubMed:16380715)
  9. Koshiba-Takeuchi K et al. (2009) Reptilian heart development and the molecular basis of cardiac chamber evolution. Nature, 461:95-8. (PubMed:19727199)
  10. Lee S et al. (2012) UTX, a Histone H3-Lysine 27 Demethylase, Acts as a Critical Switch to Activate the Cardiac Developmental Program. Dev Cell, 22:25-37. (PubMed:22192413)
  11. Lewandowski SL et al. (2014) Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis. Hum Mol Genet, 23:3801-9. (PubMed:24565863)
  12. Maitra M et al. (2009) Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol, 326:368-77. (PubMed:19084512)
  13. Minguillon C et al. (2005) Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev Cell, 8:75-84. (PubMed:15621531)
  14. Mori AD et al. (2006) Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol, 297:566-86. (PubMed:16870172)
  15. Moskowitz IP et al. (2007) A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell, 129:1365-76. (PubMed:17604724)
  16. Moskowitz IP et al. (2004) The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system. Development, 131:4107-16. (PubMed:15289437)
  17. Paylor R et al. (2006) Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A, 103:7729-34. (PubMed:16684884)
  18. Plageman TF Jr et al. (2004) Differential expression and function of Tbx5 and Tbx20 in cardiac development. J Biol Chem, 279:19026-34. (PubMed:14978031)
  19. Rallis C et al. (2003) Tbx5 is required for forelimb bud formation and continued outgrowth. Development, 130:2741-51. (PubMed:12736217)
  20. Shpargel KB et al. (2012) UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS Genet, 8:e1002964. (PubMed:23028370)
  21. Stennard FA et al. (2003) Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart. Dev Biol, 262:206-24. (PubMed:14550786)
  22. Takeuchi JK et al. (2005) Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development, 132:2463-74. (PubMed:15843409)
  23. Xie L et al. (2012) Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septation. Dev Cell, 23:280-91. (PubMed:22898775)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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