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Gene Review

AFF2  -  AF4/FMR2 family, member 2

Homo sapiens

Synonyms: AF4/FMR2 family member 2, FMR2, FMR2P, FRAXE, Fragile X E mental retardation syndrome protein, ...
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Disease relevance of AFF2

  • Elucidation of the function of the FMR2 protein as a transcription activator may place FMR2 within the molecular signalling pathways involved in nonspecific X-linked mental retardation (MRX) [1].
  • These organisms reacted with Proteus OX-19 antisera, and their size and form were consistent with rickettsia [2].
  • We describe here the results of a U.K. survey designed to assess the frequency of FRAXE in a population of individuals referred for fragile X syndrome testing and found to be negative for expansion events at the FRAXA locus [3].
  • Members of the AF4/FMR2 family of nuclear proteins are involved in human diseases such as acute lymphoblastic leukemia and mental retardation [4].
  • FRAXE individuals have been shown to exhibit learning deficits, including speech delay, reading and writing problems [5].

Psychiatry related information on AFF2


High impact information on AFF2

  • Of the three X chromosome sites, FRAXA, FRAXE and FRAXF, the former two are associated with mental retardation in their expanded forms [6].
  • An association of FRAXE expression with concurrent methylation of the CpG island and mild non-specific mental handicap in males has been reported by several groups [10].
  • Expansions of greater than 200 copies were found in FRAXE expressing males and their FRAXE associated CpG island was fully methylated [10].
  • FRAXE is a rare folate sensitive fragile site only recently recognized [10].
  • A 5-kilobase EcoRI fragment derived from a cosmid coincident with the cytogenetic anomaly detects expanded, methylated and unstable sequences in five individuals who exhibit fragile sites in distal Xq; these individuals have normal repeat lengths at both FRAXA and FRAXE [11].

Chemical compound and disease context of AFF2


Biological context of AFF2


Anatomical context of AFF2


Associations of AFF2 with chemical compounds

  • We have developed an assay which allows simultaneous amplification of the triplet repeat sequences at the FRAXA and FRAXE loci by polymerase chain reaction, and detection of the products on non-denaturing gels stained with ethidium bromide [20].
  • For P. vulgaris, IgG antibodies recognized the proteins and lipopolysaccharides of both OX19 and OX2 serotypes; IgM antibodies were directed against the P. vulgaris OX2 lipopolysaccharide [21].
  • The product of FMR2 is a member of a family of proteins rich in serine and proline, members of which have been associated with transcriptional activation [22].

Other interactions of AFF2

  • In these respects the behaviour of FRAXE paralleled that of FRAXA [23].
  • A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation [24].
  • Microdeletions in FMR2 may be a significant cause of premature ovarian failure [17].
  • Comparison of AF-4 protein coding sequences with the LAF-4 and FMR-2 sequences revealed five highly conserved domains of potential functional relevance [25].
  • However, Ox 19 (anti-rat CD5) given at the same time as immunization partly prevented clinical signs of EAN, while Ox 19 given shortly before expected onset of disease or during height of disease drastically exaggerated disease symptoms [26].

Analytical, diagnostic and therapeutic context of AFF2


  1. Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. Hillman, M.A., Gecz, J. J. Hum. Genet. (2001) [Pubmed]
  2. Association of Rickettsia helvetica with chronic perimyocarditis in sudden cardiac death. Nilsson, K., Lindquist, O., Påhlson, C. Lancet (1999) [Pubmed]
  3. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Knight, S.J., Ritchie, R.J., Chakrabarti, L., Cross, G., Taylor, G.R., Mueller, R.F., Hurst, J., Paterson, J., Yates, J.R., Dow, D.J., Davies, K.E. Am. J. Hum. Genet. (1996) [Pubmed]
  4. Lilliputian: an AF4/FMR2-related protein that controls cell identity and cell growth. Wittwer, F., van der Straten, A., Keleman, K., Dickson, B.J., Hafen, E. Development (2001) [Pubmed]
  5. Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain. Miller, W.J., Skinner, J.A., Foss, G.S., Davies, K.E. Eur. J. Neurosci. (2000) [Pubmed]
  6. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Gu, Y., Shen, Y., Gibbs, R.A., Nelson, D.L. Nat. Genet. (1996) [Pubmed]
  7. FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability. Teague, J.W., Morton, N.E., Dennis, N.R., Curtis, G., McKechnie, N., Macpherson, J.N., Murray, A., Pound, M.C., Sharrock, A.J., Youings, S.A., Jacobs, P.A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  8. Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations. Faradz, S.M., Leggo, J., Murray, A., Lam-Po-Tang, P.R., Buckley, M.F., Holden, J.J. Ann. Hum. Genet. (2001) [Pubmed]
  9. Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site. Wang, Q., Gu, Y., Ferguson, J.M., Chen, Q., Boatwright, S., Gardiner, J., Below, C., Espinosa, J., Nelson, D.L., Shaffer, L.G. Am. J. Med. Genet. A (2003) [Pubmed]
  10. Identification of the gene FMR2, associated with FRAXE mental retardation. Gecz, J., Gedeon, A.K., Sutherland, G.R., Mulley, J.C. Nat. Genet. (1996) [Pubmed]
  11. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Parrish, J.E., Oostra, B.A., Verkerk, A.J., Richards, C.S., Reynolds, J., Spikes, A.S., Shaffer, L.G., Nelson, D.L. Nat. Genet. (1994) [Pubmed]
  12. Structural properties of lipopolysaccharides from Rickettsia typhi and Rickettsia prowazekii and their chemical similarity to the lipopolysaccharide from Proteus vulgaris OX19 used in the Weil-Felix test. Amano, K.I., Williams, J.C., Dasch, G.A. Infect. Immun. (1998) [Pubmed]
  13. Structures of the O-antigens of Proteus bacilli belonging to OX group (serogroups O1-O3) used in Weil-Felix test. Ziolkowski, A., Shashkov, A.S., Swierzko, A.S., Senchenkova, S.N., Toukach, F.V., Cedzynski, M., Amano, K.I., Kaca, W., Knirel, Y.A. FEBS Lett. (1997) [Pubmed]
  14. Structure of the acid-labile galactosyl phosphate-containing O-antigen of the bacterium Proteus vulgaris OX19 (serogroup O1) used in the Weil-Felix test. Senchenkova, S.N., Shashkov, A.S., Toukach, F.V., Ziolkowski, A., Swierzko, A.S., Amano, K.I., Kaca, W., Knirel YuA, n.u.l.l., Kochetkov, N.K. Biochemistry Mosc. (1997) [Pubmed]
  15. A candidate gene for mild mental handicap at the FRAXE fragile site. Chakrabarti, L., Knight, S.J., Flannery, A.V., Davies, K.E. Hum. Mol. Genet. (1996) [Pubmed]
  16. FMR2 expression in families with FRAXE mental retardation. Gécz, J., Oostra, B.A., Hockey, A., Carbonell, P., Turner, G., Haan, E.A., Sutherland, G.R., Mulley, J.C. Hum. Mol. Genet. (1997) [Pubmed]
  17. Microdeletions in FMR2 may be a significant cause of premature ovarian failure. Murray, A., Webb, J., Dennis, N., Conway, G., Morton, N. J. Med. Genet. (1999) [Pubmed]
  18. Characterisation and expression of a large, 13.7 kb FMR2 isoform. Gecz, J., Mulley, J.C. Eur. J. Hum. Genet. (1999) [Pubmed]
  19. Expression of the murine homologue of FMR2 in mouse brain and during development. Chakrabarti, L., Bristulf, J., Foss, G.S., Davies, K.E. Hum. Mol. Genet. (1998) [Pubmed]
  20. A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. Wang, Q., Green, E., Bobrow, M., Mathew, C.G. J. Med. Genet. (1995) [Pubmed]
  21. Serological response of patients suffering from primary and recrudescent typhus: comparison of complement fixation reaction, Weil-Felix test, microimmunofluorescence, and immunoblotting. Eremeeva, M.E., Balayeva, N.M., Raoult, D. Clin. Diagn. Lab. Immunol. (1994) [Pubmed]
  22. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. Gu, Y., McIlwain, K.L., Weeber, E.J., Yamagata, T., Xu, B., Antalffy, B.A., Reyes, C., Yuva-Paylor, L., Armstrong, D., Zoghbi, H., Sweatt, J.D., Paylor, R., Nelson, D.L. J. Neurosci. (2002) [Pubmed]
  23. FRAXE and mental retardation. Mulley, J.C., Yu, S., Loesch, D.Z., Hay, D.A., Donnelly, A., Gedeon, A.K., Carbonell, P., López, I., Glover, G., Gabarrón, I. J. Med. Genet. (1995) [Pubmed]
  24. Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. Tzeng, C.C., Tzeng, P.Y., Sun, H.S., Chen, R.M., Lin, S.J. Diagn. Mol. Pathol. (2000) [Pubmed]
  25. Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia. Nilson, I., Reichel, M., Ennas, M.G., Greim, R., Knörr, C., Siegler, G., Greil, J., Fey, G.H., Marschalek, R. Br. J. Haematol. (1997) [Pubmed]
  26. Modulation of experimental allergic neuritis in rats by in vivo treatment with monoclonal anti T cell antibodies. Strigård, K., Olsson, T., Larsson, P., Holmdahl, R., Klareskog, L. J. Neurol. Sci. (1988) [Pubmed]
  27. Does a peculiar EEG pattern exist also for FRAXE mental retardation? Musumeci, S.A., Scuderi, C., Ferri, R., Anello, G., Salluzzo, R., Bosco, P., Elia, M. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2000) [Pubmed]
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