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RefSeq (mRNA)



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T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.[1][2]


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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.[2] Mutations in TBX3 are implicated in cases of breast cancer.[3] TBX3 is also responsible for the dun color in horses, but its expression or lack of expression has no deleterious effects on horses, only affecting hair color.[4]


  1. Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (Jan 1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nature Genetics. 15 (1): 21–9. doi:10.1038/ng0197-21. PMID 8988164.
  2. 2.0 2.1 "Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)".
  3. "Comprehensive molecular portraits of human breast tumours". Nature. Nature Publishing Group. 490 (7418): 61–70. Oct 2012. doi:10.1038/nature11412. PMC 3465532. PMID 23000897.
  4. "A Horse of a Different Color: Genetics of camouflage and the dun pattern". Science Daily. December 21, 2015. Retrieved June 25, 2016.

Further reading

  • Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB (Jul 1997). "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome". Nature Genetics. 16 (3): 311–5. doi:10.1038/ng0797-311. PMID 9207801.
  • Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB (Jun 1999). "The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome". American Journal of Human Genetics. 64 (6): 1550–62. doi:10.1086/302417. PMC 1377898. PMID 10330342.
  • He Ml, Wen L, Campbell CE, Wu JY, Rao Y (Aug 1999). "Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome". Proceedings of the National Academy of Sciences of the United States of America. 96 (18): 10212–7. doi:10.1073/pnas.96.18.10212. PMC 17868. PMID 10468588.
  • Carlson H, Ota S, Campbell CE, Hurlin PJ (Oct 2001). "A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome". Human Molecular Genetics. 10 (21): 2403–13. doi:10.1093/hmg/10.21.2403. PMID 11689487.
  • Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R (Feb 2002). "TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence". The Journal of Biological Chemistry. 277 (8): 6567–72. doi:10.1074/jbc.M110492200. PMID 11748239.
  • Lingbeek ME, Jacobs JJ, van Lohuizen M (Jul 2002). "The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator". The Journal of Biological Chemistry. 277 (29): 26120–7. doi:10.1074/jbc.M200403200. PMID 12000749.
  • Coll M, Seidman JG, Müller CW (Mar 2002). "Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome". Structure. 10 (3): 343–56. doi:10.1016/S0969-2126(02)00722-0. PMID 12005433.
  • Carlson H, Ota S, Song Y, Chen Y, Hurlin PJ (May 2002). "Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation". Oncogene. 21 (24): 3827–35. doi:10.1038/sj.onc.1205476. PMID 12032820.
  • Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N (Jul 2002). "Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development". American Journal of Medical Genetics. 110 (4): 365–9. doi:10.1002/ajmg.10447. PMID 12116211.
  • Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M (2003). "Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family". Annales De Génétique. 45 (4): 213–7. doi:10.1016/S0003-3995(02)01144-9. PMID 12668170.
  • Fan W, Huang X, Chen C, Gray J, Huang T (Aug 2004). "TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines". Cancer Research. 64 (15): 5132–9. doi:10.1158/0008-5472.CAN-04-0615. PMID 15289316.
  • Lomnytska M, Dubrovska A, Hellman U, Volodko N, Souchelnytskyi S (Jan 2006). "Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients". International Journal of Cancer. 118 (2): 412–21. doi:10.1002/ijc.21332. PMID 16049973.
  • Yang L, Cai CL, Lin L, Qyang Y, Chung C, Monteiro RM, Mummery CL, Fishman GI, Cogen A, Evans S (Apr 2006). "Isl1Cre reveals a common Bmp pathway in heart and limb development". Development. 133 (8): 1575–85. doi:10.1242/dev.02322. PMID 16556916.
  • Lee HS, Cho HH, Kim HK, Bae YC, Baik HS, Jung JS (Feb 2007). "Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells". Molecular and Cellular Biochemistry. 296 (1–2): 129–36. doi:10.1007/s11010-006-9306-4. PMID 16955224.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
  • Mommersteeg MT, Hoogaars WM, Prall OW, de Gier-de Vries C, Wiese C, Clout DE, Papaioannou VE, Brown NA, Harvey RP, Moorman AF, Christoffels VM (Feb 2007). "Molecular pathway for the localized formation of the sinoatrial node". Circulation Research. 100 (3): 354–62. doi:10.1161/01.RES.0000258019.74591.b3. PMID 17234970.

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