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Gene Review

FXR2  -  fragile X mental retardation, autosomal...

Homo sapiens

Synonyms: FMR1L2, FXR2P, Fragile X mental retardation syndrome-related protein 2
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Disease relevance of FXR2


Psychiatry related information on FXR2

  • Disruption of Fxr2 in mice produces learning and memory deficits, and Fmr1 and Fxr2 double-knockout mice have exaggerated impairments in certain neurobehavioral phenotypes relative to the single gene knockouts [4].

High impact information on FXR2


Biological context of FXR2


Anatomical context of FXR2

  • To understand the regulation of the human FXR2 gene, we cloned the evolutionarily conserved region upstream of the FXR2 translation start site and showed that it also has bidirectional promoter activity in both neuronal and muscle cells as evidenced by luciferase reporter assay studies [4].
  • Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis [10].
  • FXR2 protein, which is closely related to FMRP, is also detected associated with mRNPs in translating polyribosomes [11].
  • FXR1 and FXR2 mRNA had the same distribution and similar intensity in the brains of normal and pathologic fetuses (female and male carriers) [1].

Other interactions of FXR2

  • Both FXR1 and FXR2 are autosomal gene homologues of FMR1 [12].

Analytical, diagnostic and therapeutic context of FXR2


  1. Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues. Agulhon, C., Blanchet, P., Kobetz, A., Marchant, D., Faucon, N., Sarda, P., Moraine, C., Sittler, A., Biancalana, V., Malafosse, A., Abitbol, M. J. Neuropathol. Exp. Neurol. (1999) [Pubmed]
  2. Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5. Kanezaki, R., Toki, T., Xu, G., Narayanan, R., Ito, E. Tohoku J. Exp. Med. (2006) [Pubmed]
  3. The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Tamanini, F., Kirkpatrick, L.L., Schonkeren, J., van Unen, L., Bontekoe, C., Bakker, C., Nelson, D.L., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Hum. Mol. Genet. (2000) [Pubmed]
  4. NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2). Mahishi, L., Usdin, K. Biochem. J. (2006) [Pubmed]
  5. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. Zhang, Y., O'Connor, J.P., Siomi, M.C., Srinivasan, S., Dutra, A., Nussbaum, R.L., Dreyfuss, G. EMBO J. (1995) [Pubmed]
  6. Knockout mouse model for Fxr2: a model for mental retardation. Bontekoe, C.J., McIlwain, K.L., Nieuwenhuizen, I.M., Yuva-Paylor, L.A., Nellis, A., Willemsen, R., Fang, Z., Kirkpatrick, L., Bakker, C.E., McAninch, R., Cheng, N.C., Merriweather, M., Hoogeveen, A.T., Nelson, D., Paylor, R., Oostra, B.A. Hum. Mol. Genet. (2002) [Pubmed]
  7. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Kirkpatrick, L.L., McIlwain, K.A., Nelson, D.L. Genomics (2001) [Pubmed]
  8. Search for a Caenorhabditis elegans FMR1 homologue: identification of a new putative RNA-binding protein (PRP-1) that hybridizes to the mouse FMR1 double K homology domain. Shtang, S., Perry, M.D., Percy, M.E. Am. J. Med. Genet. (1999) [Pubmed]
  9. The rat androgen-binding protein (ABP/SHBG) gene contains triplet repeats similar to unstable triplets: evidence that the ABP/SHBG and the fragile X-related 2 genes overlap. Joseph, D.R. Steroids (1998) [Pubmed]
  10. Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Tamanini, F., Willemsen, R., van Unen, L., Bontekoe, C., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Hum. Mol. Genet. (1997) [Pubmed]
  11. The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes. Corbin, F., Bouillon, M., Fortin, A., Morin, S., Rousseau, F., Khandjian, E.W. Hum. Mol. Genet. (1997) [Pubmed]
  12. Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Bakker, C.E., de Diego Otero, Y., Bontekoe, C., Raghoe, P., Luteijn, T., Hoogeveen, A.T., Oostra, B.A., Willemsen, R. Exp. Cell Res. (2000) [Pubmed]
  13. Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets. Kaufmann, W.E., Cohen, S., Sun, H.T., Ho, G. Microsc. Res. Tech. (2002) [Pubmed]
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