FSCN2

Identifiers

FSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal

External IDs

MGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2

Gene ontology
Molecular function	• protein complex binding • actin binding • protein binding, bridging • actin filament 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

RNA expression pattern

More reference expression data

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

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.^[3]^[4]

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.^[4]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 10234509. doi:10.1038/sj.ejhg.5200302.
1 2 "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)".

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. doi:10.1101/gr.6.9.807.
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. PMID 10783262. doi:10.1006/geno.2000.6156.
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. PMID 11795941. doi:10.1006/excr.2001.5415.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 14609921. doi:10.1001/archopht.121.11.1613.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
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. PMID 17251446. doi:10.1167/iovs.06-0669.

External links

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

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FSCN2

References

Further reading

External links