Recombinant Human T-box transcription factor TBX5 (TBX5)

Function

DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761)

Subcellular Location

Nucleus; Cytoplasm

Disease Association

Holt-Oram syndrome (HOS) : Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. [The disease is caused by variants affecting the gene represented in this entry] | [Defects in TBX5 are associated with susceptibility to heart disorders including dilated cardiomyopathy (DCM) and atrial fibrillation (AF). DCM is characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death. AF is a common sustained cardiac rhythm disturbance. AF is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure]

Subunit

Monomer (PubMed:20450920). Homodimer (via the T-box); binds DNA as homodimer (PubMed:26926761). Interacts (via the T-box) with NKX2-5 (via the homeobox); this complex binds DNA (PubMed:26926761). Interacts with GATA4 (PubMed:24000169). Interacts with KAT2A and KAT2B (PubMed:29174768)

• Li Q.Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. — Nat. Genet. (1997)
• Basson C.T. et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. — Nat. Genet. (1997)
• Basson C.T. et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. — Proc. Natl. Acad. Sci. U.S.A. (1999)
• Cross S.J. et al. The mutation spectrum in Holt-Oram syndrome. — J. Med. Genet. (2000)
• Demura M. et al. Human transcription factor TBX5mRNA, alternatively spliced. (NOV-)
• Scherer S.E. et al. The finished DNA sequence of human chromosome 12. — Nature (2006)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)