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TBX5 (gene): Wikis


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T-box 5
Symbols TBX5; HOS
External IDs OMIM601620 MGI102541 HomoloGene160 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 Q5CZX7
RefSeq (mRNA) NM_000192 NM_011537
RefSeq (protein) NP_000183 NP_035667
Location (UCSC) Chr 12:
113.28 - 113.33 Mb
Chr 5:
120.1 - 120.15 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 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.[3]



TBX5 (gene) has been shown to interact with GATA4[4] and NKX2-5.[4][5]


  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 (Jan 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 (Sep 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. ^ a b Garg, Vidu; Kathiriya Irfan S, Barnes Robert, Schluterman Marie K, King Isabelle N, Butler Cheryl A, Rothrock Caryn R, Eapen Reenu S, Hirayama-Yamada Kayoko, Joo Kunitaka, Matsuoka Rumiko, Cohen Jonathan C, Srivastava Deepak (Jul. 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature (England) 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.  
  5. ^ Hiroi, Y; Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (Jul. 2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. (United States) 28 (3): 276–80. doi:10.1038/90123. ISSN 1061-4036. PMID 11431700.  

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. doi:10.1007/s004410051266. PMID 10199965.  
  • 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.  
  • 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. doi:10.1038/ng0197-21. PMID 8988164.  
  • 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. doi:10.1073/pnas.96.6.2919. PMID 10077612.  
  • 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. doi:10.1002/(SICI)1096-8628(20000605)92:4<237::AID-AJMG2>3.0.CO;2-G. PMID 10842287.  
  • 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. doi:10.1002/1097-0177(200009)219:1<90::AID-DVDY1033>3.0.CO;2-L. PMID 10974675.  
  • Hatcher CJ, Kim MS, Mah CS, et al. (2001). "TBX5 transcription factor regulates cell proliferation during cardiogenesis.". Dev. Biol. 230 (2): 177–88. doi:10.1006/dbio.2000.0134. PMID 11161571.  
  • Cross SJ, Ching YH, Li QY, et al. (2001). "The mutation spectrum in Holt-Oram syndrome.". J. Med. Genet. 37 (10): 785–7. doi:10.1136/jmg.37.10.785. PMID 11183182.  
  • 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. doi:10.1038/90123. PMID 11431700.  
  • 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. doi:10.1136/jmg.38.12.e44. PMID 11748310.  
  • 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. doi:10.1016/S0006-291X(02)02142-3. PMID 12237100.  
  • 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • 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. doi:10.1074/jbc.M208120200. PMID 12499378.  
  • 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. doi:10.1038/nature01827. PMID 12845333.  
  • 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. doi:10.1101/sqb.2002.67.115. PMID 12858531.  
  • 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. doi:10.1016/S0022-2828(03)00231-1. PMID 14519429.  

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