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]

  • Negative regulation of transcription by RNA polymerase II
  • Cell fate specification
  • Morphogenesis of an epithelium
  • Bundle of His development
  • Atrioventricular valve morphogenesis
  • Holt-oram syndrome
  • Ventricular septal defect
  • Patent foramen ovale
  • Atrial septal defect 1
  • Heart, malformation of

Structure of protein TBX5.Based on PyMOL rendering of PDB 2X6U. Pleiotrope.

Gene Location