FSCN2 explained

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.^{[1] [2]}

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.^[3]

Further reading

• Hillier LD, Lennon G, Becker M . Generation and analysis of 280,000 human expressed sequence tags. . Genome Res. . 6 . 9 . 807–28 . 1997 . 8889549 . 10.1101/gr.6.9.807 . etal. free .
• Tubb BE, Bardien-Kruger S, Kashork CD . Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. . Genomics . 65 . 2 . 146–56 . 2000 . 10783262 . 10.1006/geno.2000.6156 . etal.
• Saishin Y, Ishikawa R, Ugawa S . Retinal fascin: functional nature, subcellular distribution, and chromosomal localization. . Invest. Ophthalmol. Vis. Sci. . 41 . 8 . 2087–95 . 2000 . 10892848 . etal.
• Wada Y, Abe T, Takeshita T . Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. . Invest. Ophthalmol. Vis. Sci. . 42 . 10 . 2395–400 . 2001 . 11527955 . etal.
• Guan Y, Woo PL, Rubenstein NM, Firestone GL . Transforming growth factor-alpha abrogates the glucocorticoid stimulation of tight junction formation and reverses the steroid-induced down-regulation of fascin in rat mammary epithelial tumor cells by a Ras-dependent pathway. . Exp. Cell Res. . 273 . 1 . 1–11 . 2002 . 11795941 . 10.1006/excr.2001.5415 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Wada Y, Abe T, Itabashi T . Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. . Arch. Ophthalmol. . 121 . 11 . 1613–20 . 2003 . 14609921 . 10.1001/archopht.121.11.1613 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Gamundi MJ, Hernan I, Maseras M . Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. . Mol. Vis. . 11 . 922–8 . 2006 . 16280978 . etal.
• Zhang Q, Li S, Xiao X . The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. . Invest. Ophthalmol. Vis. Sci. . 48 . 2 . 530–3 . 2007 . 17251446 . 10.1167/iovs.06-0669 . etal. free .

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview

Notes and References

1. Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar RS . Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin . Eur J Hum Genet . 7 . 3 . 332–8 . Jun 1999 . 10234509 . 10.1038/sj.ejhg.5200302 . free .
2. Web site: Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus).
3. Web site: Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus).