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Gene Review

FRG2  -  FSHD region gene 2

Homo sapiens

Synonyms: FRG2A, FSHD region gene 2 protein, Protein FRG2
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Disease relevance of FRG2

  • However, in non-FSHD myopathy patients only distantly related FRG2 homologues are transcribed, while differentiating myoblasts from healthy controls fail to express any member of this gene family [1].

High impact information on FRG2

  • In comparison with humans, African apes show very low or undetectable levels of FRG1 and FRG2 histone 4 acetylation and gene transcription, although histone deacetylase inhibition restores gene transcription to levels comparable with those of human cells, thus indicating that the 4qter region is capable of acquiring a more open chromatin structure [2].
  • FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients [1].
  • Moreover, fibroblasts of FSHD patients and control individuals undergoing forced Ad5-MyoD mediated myogenesis show expression of FRG2 mainly originating from chromosome 10 [1].
  • Transient transfection experiments with FRG2 fusion-protein constructs reveal nuclear localisation and apparently FRG2 overexpression causes a wide range of morphological changes [1].
  • Luciferase reporter assays show that the FRG2 promoter region can direct high levels of expression but is inhibited by increasing numbers of D4Z4 repeat units [1].


  1. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. Rijkers, T., Deidda, G., van Koningsbruggen, S., van Geel, M., Lemmers, R.J., van Deutekom, J.C., Figlewicz, D., Hewitt, J.E., Padberg, G.W., Frants, R.R., van der Maarel, S.M. J. Med. Genet. (2004) [Pubmed]
  2. Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2). Bodega, B., Cardone, M.F., Müller, S., Neusser, M., Orzan, F., Rossi, E., Battaglioli, E., Marozzi, A., Riva, P., Rocchi, M., Meneveri, R., Ginelli, E. BMC Evol. Biol. (2007) [Pubmed]
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