FSCN2

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) Band 17q25.3 Start 81,528,377 bp End 81,537,130 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E2 Start 120,252,360 bp End 120,258,994 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle frontal gyrus body of pancreas right lobe of thyroid gland left lobe of thyroid gland stromal cell of endometrium ascending aorta canal of the cervix right uterine tube body of stomach gastric mucosa Top expressed in otolith organ utricle morula retinal pigment epithelium skeletal muscle tissue lip neural tube ganglionic eminence adrenal gland yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein-macromolecule adaptor activity actin filament binding protein-containing 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: 120.25 – 120.26 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.

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.

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. Bibcode:2002PNAS...9916899M. 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