FSCN2

From Wikipedia, the free encyclopedia

Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)

Identifiers

FSCN2; RFSN; RP30

External IDs

OMIM: 607643 MGI: 2443337 HomoloGene: 22722

Gene ontology
Molecular Function:	• protein binding, bridging • actin filament binding
Cellular Component:	• actin cytoskeleton
Biological Process:	• visual perception • anatomical structure morphogenesis • response to stimulus • actin filament bundle formation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001077182 (mRNA)
NP_001070650 (protein)

NM_172802 (mRNA)
NP_766390 (protein)

Location

Chr 17: 77.11 - 77.11 Mb

Chr 11: 120.18 - 120.18 Mb

Pubmed search

[1]

[2]

Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus), also known as FSCN2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus).

[edit] Further reading

Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. PMID 8889549.
Bardien-Kruger S, Greenberg J, Tubb B, et al. (1999). "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. doi:10.1038/sj.ejhg.5200302. PMID 10234509.
Tubb BE, Bardien-Kruger S, Kashork CD, et al. (2000). "Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.". Genomics 65 (2): 146–56. doi:10.1006/geno.2000.6156. PMID 10783262.
Saishin Y, Ishikawa R, Ugawa S, et al. (2000). "Retinal fascin: functional nature, subcellular distribution, and chromosomal localization.". Invest. Ophthalmol. Vis. Sci. 41 (8): 2087–95. PMID 10892848.
Wada Y, Abe T, Takeshita T, et al. (2001). "Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.". Invest. Ophthalmol. Vis. Sci. 42 (10): 2395–400. PMID 11527955.
Guan Y, Woo PL, Rubenstein NM, Firestone GL (2002). "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. doi:10.1006/excr.2001.5415. PMID 11795941.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Wada Y, Abe T, Itabashi T, et al. (2003). "Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.". Arch. Ophthalmol. 121 (11): 1613–20. doi:10.1001/archopht.121.11.1613. PMID 14609921.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Gamundi MJ, Hernan I, Maseras M, et al. (2006). "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. PMID 16280978.
Zhang Q, Li S, Xiao X, et al. (2007). "The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.". Invest. Ophthalmol. Vis. Sci. 48 (2): 530–3. doi:10.1167/iovs.06-0669. PMID 17251446.