FSCN2

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.[5][6]

FSCN2
Identifiers
Aliases	FSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDs	OMIM: 607643 MGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,528,396 bp[1] End 81,537,130 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,361,534 bp[2] End 120,368,168 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • actin binding • protein binding, bridging • actin filament binding • GO:0032403 macromolecular complex binding Cellular component • cell projection • cytoskeleton • stereocilium • actin cytoskeleton • filamentous actin • cytoplasm Biological process • actin filament organization • anatomical structure morphogenesis • actin cytoskeleton organization • visual perception • actin filament bundle assembly • eye photoreceptor cell development • establishment or maintenance of cell polarity • cell migration Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	25794	238021
Ensembl	ENSG00000186765	ENSMUSG00000025380
UniProt	O14926	Q32M02
RefSeq (mRNA)	NM_001077182 NM_012418	NM_172802
RefSeq (protein)	NP_001070650 NP_036550	NP_766390
Location (UCSC)	Chr 17: 81.53 – 81.54 Mb	Chr 11: 120.36 – 120.37 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000186765 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025380 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar RS (Jun 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.
6. "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)".

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. doi:10.1101/gr.6.9.807. PMID 8889549.
• 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. PMC 139241. 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. PMC 528928. 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.

External links

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