TBX5 (gene)

From Wikipedia, the free encyclopedia
Jump to: navigation, search
T-box 5
Protein TBX5 PDB 2X6U.png
Rendering based on PDB 2X6U.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols TBX5 ; HOS
External IDs OMIM601620 MGI102541 HomoloGene160 ChEMBL: 1687681 GeneCards: TBX5 Gene
RNA expression pattern
PBB GE TBX5 211886 s at tn.png
PBB GE TBX5 207155 at tn.png
More reference expression data
Species Human Mouse
Entrez 6910 21388
Ensembl ENSG00000089225 ENSMUSG00000018263
UniProt Q99593 P70326
RefSeq (mRNA) NM_000192 NM_011537
RefSeq (protein) NP_000183 NP_035667
Location (UCSC) Chr 12:
114.35 – 114.41 Mb
Chr 5:
119.83 – 119.89 Mb
PubMed search [1] [2]

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[clarification needed] 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[edit]

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:


  1. ^ Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (January 1997). "Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome". Nat Genet 15 (1): 30–5. doi:10.1038/ng0197-30. PMID 8988165. 
  2. ^ Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (September 1994). "Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q". Nat Genet 6 (4): 401–4. doi:10.1038/ng0494-401. PMID 8054982. 
  3. ^ a b "Entrez Gene: TBX5 T-box 5". 
  4. ^ Packham EA, Brook JD (2003). "T-box genes in human disorders". Hum. Mol. Genet. 12 (Spec No 1): R37–44. doi:10.1093/hmg/ddg077. PMID 12668595. 
  5. ^ Takeuchi JK, Ohgi M, Koshiba-Takeuchi K, Shiratori H, Sakaki I, Ogura K, Saijoh Y, Ogura T (2003). "Tbx5 specifies the left/right ventricles and ventricular septum position during cardiogenesis". Development 130 (24): 5953–64. doi:10.1242/dev.00797. PMID 14573514. 
  6. ^ a b Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (July 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333. 
  7. ^ Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (July 2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. 28 (3): 276–80. doi:10.1038/90123. PMID 11431700. 

Further reading[edit]

External links[edit]