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TBX5 (gene)

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Title: TBX5 (gene)  
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Subject: T-box, Homeobox protein Nkx-2.5, GATA4, Transcription factors, NeuroD
Collection: Transcription Factors
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TBX5 (gene)

T-box 5
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; HOS
External IDs ChEMBL: GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.[1][2][3]

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. Skeletally there may be abnormally bent fingers, sloping shoulders, and phocomelia. Cardiac defects include ventral and atrial septation and problems with the conduction system.[4] Several transcript variants encoding different isoforms have been described for this gene.[3]

Clinical significance

In studies done in mutant mice without the TBX5 gene it has been shown that the homozygous mice did not survive gestation due to the heart not developing past E9.5. Also the heterozygous mice were born with morphological problems such as enlarged hearts, atrial and ventral septum defects, and limb malformations similar to those found in the Holt-Oram Syndrome.[5] Supporting the essential role of TBX5 in the heart development.


TBX5 (gene) has been shown to interact with:


Further reading

  • Simon H (1999). "T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern". Cell Tissue Res. 296 (1): 57–66.  
  • Packham EA, Brook JD (2003). "T-box genes in human disorders". Hum. Mol. Genet. 12 (Spec No 1): R37–44.  
  • Li QY, Newbury-Ecob RA, Terrett JA, et al. (1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nat. Genet. 15 (1): 21–9.  
  • Basson CT, Huang T, Lin RC, et al. (1999). "Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations". Proc. Natl. Acad. Sci. U.S.A. 96 (6): 2919–24.  
  • Yang J, Hu D, Xia J, et al. (2000). "Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome". Am. J. Med. Genet. 92 (4): 237–40.  
  • Hatcher CJ, Goldstein MM, Mah CS, et al. (2000). "Identification and localization of TBX5 transcription factor during human cardiac morphogenesis". Dev. Dyn. 219 (1): 90–5.  
  • Hatcher CJ, Kim MS, Mah CS, et al. (2001). "TBX5 transcription factor regulates cell proliferation during cardiogenesis". Dev. Biol. 230 (2): 177–88.  
  • Cross SJ, Ching YH, Li QY, et al. (2001). "The mutation spectrum in Holt-Oram syndrome". J. Med. Genet. 37 (10): 785–7.  
  • Hiroi Y, Kudoh S, Monzen K, et al. (2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. 28 (3): 276–80.  
  • Akrami SM, Winter RM, Brook JD, Armour JA (2002). "Detection of a large TBX5 deletion in a family with Holt-Oram syndrome". J. Med. Genet. 38 (12): E44.  
  • He ML, Chen Y, Peng Y, et al. (2002). "Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5". Biochem. Biophys. Res. Commun. 297 (2): 185–92.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Fan C, Liu M, Wang Q (2003). "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome". J. Biol. Chem. 278 (10): 8780–5.  
  • Garg V, Kathiriya IS, Barnes R, et al. (2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature 424 (6947): 443–7.  
  • Huang T, Lock JE, Marshall AC, et al. (2003). "Causes of clinical diversity in human TBX5 mutations". Cold Spring Harb. Symp. Quant. Biol. 67: 115–20.  
  • Collavoli A, Hatcher CJ, He J, et al. (2004). "TBX5 nuclear localization is mediated by dual cooperative intramolecular signals". J. Mol. Cell. Cardiol. 35 (10): 1191–5.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Holt-Oram Syndrome
  • TBX5 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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