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MeSH Review

Genes, Neurofibromatosis 2

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Disease relevance of Genes, Neurofibromatosis 2


High impact information on Genes, Neurofibromatosis 2


Biological context of Genes, Neurofibromatosis 2


Anatomical context of Genes, Neurofibromatosis 2


Gene context of Genes, Neurofibromatosis 2

  • The neurofibromatosis type 2 gene (NF2) is involved in the pathogenesis of benign tumors of the human nervous system [16].
  • The NF2 gene was recently cloned and found to encode a protein, schwannomin (or merlin), with homology to the band 4.1 superfamily [17].
  • This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations [18].
  • The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation [19].
  • The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins) [20].

Analytical, diagnostic and therapeutic context of Genes, Neurofibromatosis 2


  1. Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Huynh, D.P., Nechiporuk, T., Pulst, S.M. Hum. Mol. Genet. (1994) [Pubmed]
  2. The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases. Lasota, J., Fetsch, J.F., Wozniak, A., Wasag, B., Sciot, R., Miettinen, M. Am. J. Pathol. (2001) [Pubmed]
  3. Erbin regulates mitogen-activated protein (MAP) kinase activation and MAP kinase-dependent interactions between Merlin and adherens junction protein complexes in Schwann cells. Rangwala, R., Banine, F., Borg, J.P., Sherman, L.S. J. Biol. Chem. (2005) [Pubmed]
  4. Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers. Yaegashi, S., Sachse, R., Ohuchi, N., Mori, S., Sekiya, T. Jpn. J. Cancer Res. (1995) [Pubmed]
  5. Effects of Nf2 missense mutations on schwannomin interactions. Scoles, D.R., Chen, M., Pulst, S.M. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  6. The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44. Morrison, H., Sherman, L.S., Legg, J., Banine, F., Isacke, C., Haipek, C.A., Gutmann, D.H., Ponta, H., Herrlich, P. Genes Dev. (2001) [Pubmed]
  7. High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas. Bianchi, A.B., Mitsunaga, S.I., Cheng, J.Q., Klein, W.M., Jhanwar, S.C., Seizinger, B., Kley, N., Klein-Szanto, A.J., Testa, J.R. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  8. Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development. Gutmann, D.H., Wright, D.E., Geist, R.T., Snider, W.D. Hum. Mol. Genet. (1995) [Pubmed]
  9. Quinidine impairs proliferation of neurofibromatosis type 2-deficient human malignant mesothelioma cells. Utermark, T., Alekov, A., Lerche, H., Abramowski, V., Giovannini, M., Hanemann, C.O. Cancer (2003) [Pubmed]
  10. Meta-PCR: a novel method for creating chimeric DNA molecules and increasing the productivity of mutation scanning techniques. Wallace, A.J., Wu, C.L., Elles, R.G. Genet. Test. (1999) [Pubmed]
  11. The neurofibromatosis type 2 gene is inactivated in schwannomas. Twist, E.C., Ruttledge, M.H., Rousseau, M., Sanson, M., Papi, L., Merel, P., Delattre, O., Thomas, G., Rouleau, G.A. Hum. Mol. Genet. (1994) [Pubmed]
  12. A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected]. Kluwe, L., Pulst, S.M., Köppen, J., Mautner, V.F. Hum. Genet. (1995) [Pubmed]
  13. Neurofibromatosis 2 gene in human colorectal cancer. Rustgi, A.K., Xu, L., Pinney, D., Sterner, C., Beauchamp, R., Schmidt, S., Gusella, J.F., Ramesh, V. Cancer Genet. Cytogenet. (1995) [Pubmed]
  14. Reduced apoptosis rates in human schwannomas. Utermark, T., Kaempchen, K., Antoniadis, G., Hanemann, C.O. Brain Pathol. (2005) [Pubmed]
  15. Heterogeneity of mesothelioma cell lines as defined by altered genomic structure and expression of the NF2 gene. Deguen, B., Goutebroze, L., Giovannini, M., Boisson, C., van der Neut, R., Jaurand, M.C., Thomas, G. Int. J. Cancer (1998) [Pubmed]
  16. Schwannomin isoform-1 interacts with syntenin via PDZ domains. Jannatipour, M., Dion, P., Khan, S., Jindal, H., Fan, X., Laganière, J., Chishti, A.H., Rouleau, G.A. J. Biol. Chem. (2001) [Pubmed]
  17. Schwannomin: new insights into this member of the band 4.1 superfamily. Belliveau, M.J., Lutchman, M., Claudio, J.O., Marineau, C., Rouleau, G.A. Biochem. Cell Biol. (1995) [Pubmed]
  18. Preimplantation diagnosis for neurofibromatosis. Verlinsky, Y., Rechitsky, S., Verlinsky, O., Chistokhina, A., Sharapova, T., Masciangelo, C., Levy, M., Kaplan, B., Lederer, K., Kuliev, A. Reprod. Biomed. Online (2002) [Pubmed]
  19. Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. Warren, C., James, L.A., Ramsden, R.T., Wallace, A., Baser, M.E., Varley, J.M., Evans, D.G. J. Med. Genet. (2003) [Pubmed]
  20. NF2 gene in neurofibromatosis type 2 patients. Zucman-Rossi, J., Legoix, P., Der Sarkissian, H., Cheret, G., Sor, F., Bernardi, A., Cazes, L., Giraud, S., Ollagnon, E., Lenoir, G., Thomas, G. Hum. Mol. Genet. (1998) [Pubmed]
  21. Assignment of the neurofibromatosis 2 (Nf2) gene to rat chromosome bands 14q21-->q22 by in situ hybridization. Kindler-Röhrborn, A., Zabel, S., Koelsch, B.U. Cytogenet. Cell Genet. (2000) [Pubmed]
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