Fascin 2 is a protein that is encoded in humans by the FSCN2 gene. [1] [2]
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| Symbol | ; RFSN; RP30 | ||||||||||||
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This gene encodes a member of the fascinin protein family. Fascins crosslink actin in filamentous bundles within dynamic cell extensions. This family member supposedly plays a role in the morphogenesis of photoreceptors . Mutation in this gene leads to one of the forms of autosomal dominant retinitis pigmentosa and macular degeneration. Several transcript variants encoding various isoforms have been found for this gene. [2]
Notes
- ↑ 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 (Eng.) // Eur J Hum Genet : journal. - 1999 .-- June ( vol. 7 , no. 3 ). - P. 332—338 . - DOI : 10.1038 / sj.ejhg.5200302 . - PMID 10234509 .
- ↑ 1 2 Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) .
Literature
- Hillier LD, Lennon G., Becker M., et al. Generation and analysis of 280,000 human expressed sequence tags. (Eng.) // Genome Res. : journal. - 1997. - Vol. 6 , no. 9 . - P. 807-828 . - DOI : 10.1101 / gr.6.9.807 . - PMID 8889549 .
- Tubb BE, Bardien-Kruger S., Kashork CD, et al. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. (English) // Genomics : journal. - Academic Press , 2000. - Vol. 65 , no. 2 . - P. 146-156 . - DOI : 10.1006 / geno.2000.6156 . - PMID 10783262 .
- Saishin Y., Ishikawa R., Ugawa S., et al. Retinal fascin: functional nature, subcellular distribution, and chromosomal localization. (Eng.) // Invest. Ophthalmol. Vis Sci. : journal. - 2000. - Vol. 41 , no. 8 . - P. 2087-2095 . - PMID 10892848 .
- Wada Y., Abe T., Takeshita T., et al. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. (Eng.) // Invest. Ophthalmol. Vis Sci. : journal. - 2001. - Vol. 42 , no. 10 . - P. 2395-2400 . - PMID 11527955 .
- 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. (Eng.) // Exp. Cell Res. : journal. - 2002. - Vol. 273 , no. 1 . - P. 1-11 . - DOI : 10.1006 / excr.2001.5415 . - PMID 11795941 .
- Strausberg RL, Feingold EA, Grouse LH, et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (Eng.) // Proceedings of the National Academy of Sciences of the United States of America : journal. - 2003. - Vol. 99 , no. 26 . - P. 16899-16903 . - DOI : 10.1073 / pnas.242603899 . - PMID 12477932 .
- Wada Y., Abe T., Itabashi T., et al. Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. (English) // Arch. Ophthalmol. : journal. - 2003. - Vol. 121 , no. 11 . - P. 1613-1620 . - DOI : 10.1001 / archopht.121.11.1613 . - PMID 14609921 .
- Gerhard DS, Wagner L., Feingold EA, et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (Eng.) // Genome Res. : journal. - 2004. - Vol. 14 , no. 10B . - P. 2121-2127 . - DOI : 10.1101 / gr.2596504 . - PMID 15489334 .
- Gamundi MJ, Hernan I., Maseras M., et al. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. (English) // Mol. Vis : journal. - 2006. - Vol. 11 . - P. 922-928 . - PMID 16280978 .
- Zhang Q., Li S., Xiao X., et al. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. (Eng.) // Invest. Ophthalmol. Vis Sci. : journal. - 2007. - Vol. 48 , no. 2 . - P. 530-533 . - DOI : 10.1167 / iovs.06-0669 . - PMID 17251446 .