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Gene Review

BFSP2  -  beaded filament structural protein 2,...

Homo sapiens

Synonyms: 49 kDa cytoskeletal protein, Beaded filament structural protein 2, CP47, CP49, CTRCT12, ...
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Disease relevance of BFSP2


High impact information on BFSP2


Biological context of BFSP2


Anatomical context of BFSP2

  • On consideration of the proposed function of BFSP2 in the lens cytoskeleton, it is likely that this alteration is the cause of cataracts in the members of the family we studied [10].
  • These data show that CP49 is a member of the intermediate filament family, but highly unusual in several regards [8].
  • With immunoconfocal microscopy, regions of colocalization of AQP0 with filensin and CP49 at the fiber cell plasma membrane in the lens cortex were defined [11].
  • It is proposed that both filensin and CP49 are critically involved in organising the cytoplasmic and plasma membrane domains of the fibre cell and therefore essential to the optical properties of the lens [12].
  • Vitreous humor, the presumptive source of differentiation-promoting activity in vivo, contains a factor capable of diffusing out of the vitreous body and inducing delta-crystallin and CP49 expression in chick lens cultures [13].

Associations of BFSP2 with chemical compounds

  • Sequencing results revealed a 3-bp deletion of nucleotides 696-698 (GAA) in exon 3 of BFSP2, which is predicted to cause an in-frame deletion of glutamic acid residue 233 from the polypeptide encoded by the mutant gene [14].
  • Photoassembly of the manganese cluster and oxygen evolution from monomeric and dimeric CP47 reaction center photosystem II complexes [15].
  • After the lower Ca(2+) affinity and the 10-fold smaller absorption cross-section for photons in CP47 dimers is taken into account, the intrinsic rate constant for the rate-limiting calcium-dependent dark step is indistinguishable for the two systems [15].
  • Labeling of CP47, D2, and D1 with methylamine and phenylhydrazine approached a one-to-one stoichiometry, assuming that D2 and D1 each have one binding site [16].
  • We have found, by using sucrose density centrifugation, that the resulting preparation consisted of a mixture of dimeric and monomeric forms of the CP47 reaction center (RC) complex, having molecular masses of 410 +/- 30 and 200 +/- 28 kDa, respectively, as estimated by size exclusion chromatography [17].

Other interactions of BFSP2

  • The results obtained with MBP-alphaB were confirmed by immunoprecipitation reactions in which immunoprecipitation of native bovine alphaB-crystallin from heat-shocked lens cell homogenates resulted in the coprecipitation of phakinin and filensin [18].
  • In addition, these results demonstrate a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2 [19].

Analytical, diagnostic and therapeutic context of BFSP2


  1. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Jakobs, P.M., Hess, J.F., FitzGerald, P.G., Kramer, P., Weleber, R.G., Litt, M. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Energy transfer and trapping in photosystem I reaction centers from cyanobacteria. DiMagno, L., Chan, C.K., Jia, Y., Lang, M.J., Newman, J.R., Mets, L., Fleming, G.R., Haselkorn, R. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  3. Site-directed mutagenesis of the CP 47 protein of photosystem II: alteration of conserved charged residues in the domain 364E-444R. Putnam-Evans, C., Burnap, R., Wu, J., Whitmarsh, J., Bricker, T.M. Biochemistry (1996) [Pubmed]
  4. The beaded filament of the eye lens: an unexpected key to intermediate filament structure and function. Quinlan, R.A., Carte, J.M., Sandilands, A., Prescott, A.R. Trends Cell Biol. (1996) [Pubmed]
  5. Filensin and phakinin form a novel type of beaded intermediate filaments and coassemble de novo in cultured cells. Goulielmos, G., Gounari, F., Remington, S., Müller, S., Häner, M., Aebi, U., Georgatos, S.D. J. Cell Biol. (1996) [Pubmed]
  6. The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. Merdes, A., Gounari, F., Georgatos, S.D. J. Cell Biol. (1993) [Pubmed]
  7. Structure of a photosystem II supercomplex isolated from Prochloron didemni retaining its chlorophyll a/b light-harvesting system. Bibby, T.S., Nield, J., Chen, M., Larkum, A.W., Barber, J. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  8. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. Hess, J.F., Casselman, J.T., FitzGerald, P.G. J. Biol. Chem. (1996) [Pubmed]
  9. Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. Hess, J.F., Casselman, J.T., FitzGerald, P.G. Curr. Eye Res. (1995) [Pubmed]
  10. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Conley, Y.P., Erturk, D., Keverline, A., Mah, T.S., Keravala, A., Barnes, L.R., Bruchis, A., Hess, J.F., FitzGerald, P.G., Weeks, D.E., Ferrell, R.E., Gorin, M.B. Am. J. Hum. Genet. (2000) [Pubmed]
  11. The C terminus of lens aquaporin 0 interacts with the cytoskeletal proteins filensin and CP49. Lindsey Rose, K.M., Gourdie, R.G., Prescott, A.R., Quinlan, R.A., Crouch, R.K., Schey, K.L. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  12. The intermediate filament cytoskeleton of the lens: an ever changing network through development and differentiation. A minireview. Prescott, A.R., Sandilands, A., Hutcheson, A.M., Carter, J.M., Quinlan, R.A. Ophthalmic Res. (1996) [Pubmed]
  13. FGF signaling in chick lens development. Le, A.C., Musil, L.S. Dev. Biol. (2001) [Pubmed]
  14. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. Zhang, L., Gao, L., Li, Z., Qin, W., Gao, W., Cui, X., Feng, G., Fu, S., He, L., Liu, P. Mol. Vis. (2006) [Pubmed]
  15. Photoassembly of the manganese cluster and oxygen evolution from monomeric and dimeric CP47 reaction center photosystem II complexes. Büchel, C., Barber, J., Ananyev, G., Eshaghi, S., Watt, R., Dismukes, C. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  16. Probing the structure of photosystem II with amines and phenylhydrazine. Anderson, L.B., Ouellette, A.J., Barry, B.A. J. Biol. Chem. (2000) [Pubmed]
  17. Isolation and characterization of monomeric and dimeric CP47-reaction center photosystem II complexes. Zheleva, D., Sharma, J., Panico, M., Morris, H.R., Barber, J. J. Biol. Chem. (1998) [Pubmed]
  18. AlphaB-crystallin selectively targets intermediate filament proteins during thermal stress. Muchowski, P.J., Valdez, M.M., Clark, J.I. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  19. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Zhang, Q., Guo, X., Xiao, X., Yi, J., Jia, X., Hejtmancik, J.F. Mol. Vis. (2004) [Pubmed]
  20. Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. Carter, J.M., McLean, W.H., West, S., Quinlan, R.A. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  21. Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Alizadeh, A., Clark, J., Seeberger, T., Hess, J., Blankenship, T., FitzGerald, P.G. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
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