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Gene Review

MESP2  -  mesoderm posterior basic helix-loop-helix...

Homo sapiens

Synonyms: BHLHC6, Class C basic helix-loop-helix protein 6, Mesoderm posterior protein 2, SCDO2, bHLHc6
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Disease relevance of MESP2


High impact information on MESP2

  • No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes [1].
  • We also show that Mesp2 directly binds to the enhancer sequence of Epha4 [2].
  • Furthermore, the forced expression of Mesp2 in somitic cells results in the activation of Epha4 and repression of the caudal gene Uncx4.1, which may trigger the events leading to the formation of abnormal somites and rostralized vertebra [2].

Biological context of MESP2

  • Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development [3].


  1. Mutated MESP2 causes spondylocostal dysostosis in humans. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L., Turnpenny, P.D. Am. J. Hum. Genet. (2004) [Pubmed]
  2. Identification of Epha4 enhancer required for segmental expression and the regulation by Mesp2. Nakajima, Y., Morimoto, M., Takahashi, Y., Koseki, H., Saga, Y. Development (2006) [Pubmed]
  3. Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development. Haraguchi, S., Kitajima, S., Takagi, A., Takeda, H., Inoue, T., Saga, Y. Mech. Dev. (2001) [Pubmed]
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