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Gene Review

FBN2  -  fibrillin 2

Homo sapiens

Synonyms: CCA, DA9, EOMD, Fibrillin-2
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Disease relevance of FBN2


Psychiatry related information on FBN2


High impact information on FBN2

  • The MFS is caused by mutations in FBN1, while CCA has been genetically linked to FBN2 (refs 2, 5, 6) [1].
  • Our study provides final proof of the association between FBN2 mutations and CCA pathology, thus establishing the role of the fibrillin-2 in extracellular matrix physiology and pathology [1].
  • Finally, immunohistochemistry revealed that the fibrillins co-distribute in elastic and non-elastic connective tissues of the developing embryo, with preferential accumulation of the FBN2 gene product in elastic fiber-rich matrices [6].
  • CCA has recently been shown to result from mutations in the FBN2 gene, which encodes an elastin-associated microfibrillar protein called fibrillin-2 [7].
  • Previous studies demonstrated linkage of this family's CCA phenotype to FBN2 [8].

Biological context of FBN2


Anatomical context of FBN2

  • We also applied this mRNA quantitation method to determine the relative ratio between transcripts from the genes coding for two highly homologous microfibrillar components, FBN1 and FBN2, in control fibroblast cultures as well as in fibroblasts from MFS patients [12].
  • Like FBN2, the highest expression levels of FBN3 were found in fetal tissues, with only low levels in postnatal tissues [13].
  • Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts [7].
  • The concordance between loss of expression and aberrant methylation of FBN2 was 88% (14 of 16) in the cell lines [4].

Associations of FBN2 with chemical compounds


Other interactions of FBN2

  • No associations of FBN2 and LOX with IA were detected in the present study [2].
  • Combining the two cohorts still showed association for the SERPINE1 (combined OR 1.27, 95% CI 1.07-1.50, P=0.004, PAR 6%), FBN2 (combined OR 1.37, 95% CI 1.07-1.75, P=0.01, PAR 3%) and COL4A1 (combined OR 1.22, 95% CI 1.05-1.42, P=0.007, PAR 7%) genes [14].
  • The 14 Mb deleted region contains about 60 genes but, with the possible exception of FBN2 and DMXL1, there are no obvious candidate genes for the specific components of the phenotype [15].
  • This study indicated that FBN2 mutations were major abnormality in CCA, and TGFBR and FBN1 defects may not be responsible for the disorder [16].
  • Conventional cytogenetic and FISH analysis did not reveal any gross chromosomal rearrangement on the long arm of chromosome 5 where the APC and FBN2 genes were located [17].

Analytical, diagnostic and therapeutic context of FBN2


  1. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Putnam, E.A., Zhang, H., Ramirez, F., Milewicz, D.M. Nat. Genet. (1995) [Pubmed]
  2. Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. Yoneyama, T., Kasuya, H., Onda, H., Akagawa, H., Jinnai, N., Nakajima, T., Hori, T., Inoue, I. J. Hum. Genet. (2003) [Pubmed]
  3. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Gupta, P.A., Putnam, E.A., Carmical, S.G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S.A., Chen, E., Delorme, C.V., Thong, M.K., Adès, L.C., Milewicz, D.M. Hum. Mutat. (2002) [Pubmed]
  4. Aberrant methylation of FBN2 in human non-small cell lung cancer. Chen, H., Suzuki, M., Nakamura, Y., Ohira, M., Ando, S., Iida, T., Nakajima, T., Nakagawara, A., Kimura, H. Lung Cancer (2005) [Pubmed]
  5. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Park, E.S., Putnam, E.A., Chitayat, D., Child, A., Milewicz, D.M. Am. J. Med. Genet. (1998) [Pubmed]
  6. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. Zhang, H., Apfelroth, S.D., Hu, W., Davis, E.C., Sanguineti, C., Bonadio, J., Mecham, R.P., Ramirez, F. J. Cell Biol. (1994) [Pubmed]
  7. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Putnam, E.A., Park, E.S., Aalfs, C.M., Hennekam, R.C., Milewicz, D.M. Am. J. Hum. Genet. (1997) [Pubmed]
  8. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Maslen, C., Babcock, D., Raghunath, M., Steinmann, B. Am. J. Hum. Genet. (1997) [Pubmed]
  9. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Chaudhry, S.S., Gazzard, J., Baldock, C., Dixon, J., Rock, M.J., Skinner, G.C., Steel, K.P., Kielty, C.M., Dixon, M.J. Hum. Mol. Genet. (2001) [Pubmed]
  10. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Dietz, H.C., Pyeritz, R.E. Hum. Mol. Genet. (1995) [Pubmed]
  11. Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin. Samuel, C.S., Sakai, L.Y., Amento, E.P. Arch. Biochem. Biophys. (2003) [Pubmed]
  12. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts. Karttunen, L., Lönnqvist, L., Godfrey, M., Peltonen, L., Syvänen, A.C. Genome Res. (1996) [Pubmed]
  13. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. Corson, G.M., Charbonneau, N.L., Keene, D.R., Sakai, L.Y. Genomics (2004) [Pubmed]
  14. Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms. Ruigrok, Y.M., Rinkel, G.J., Van't Slot, R., Wolfs, M., Tang, S., Wijmenga, C. Hum. Mol. Genet. (2006) [Pubmed]
  15. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3. Garcia-Miñaur, S., Ramsay, J., Grace, E., Minns, R.A., Myles, L.M., FitzPatrick, D.R. Am. J. Med. Genet. A (2005) [Pubmed]
  16. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Nishimura, A., Sakai, H., Ikegawa, S., Kitoh, H., Haga, N., Ishikiriyama, S., Nagai, T., Takada, F., Ohata, T., Tanaka, F., Kamasaki, H., Saitsu, H., Mizuguchi, T., Matsumoto, N. Am. J. Med. Genet. A (2007) [Pubmed]
  17. Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? Calin, G., Wijnen, J., van der Klift, H., Ionita, A., Mulder, A., Breukel, C., Smits, R., Dauwerse, H., Hansson, K., Calin, S., Stefanescu, D., Oproiu, A., Fodde, R. Eur. J. Hum. Genet. (1999) [Pubmed]
  18. Prenatal diagnosis in congenital contractural arachnodactyly. Belleh, S., Spooner, L., Allanson, J., Godfrey, M. Genet. Test. (1997) [Pubmed]
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