FSCN2

Protein-coding gene in the species Homo sapiens
FSCN2
Identifiers
AliasesFSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDsOMIM: 607643; MGI: 2443337; HomoloGene: 22722; GeneCards: FSCN2; OMA:FSCN2 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for FSCN2
Genomic location for FSCN2
Band17q25.3Start81,528,377 bp[1]
End81,537,130 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for FSCN2
Genomic location for FSCN2
Band11|11 E2Start120,252,360 bp[2]
End120,258,994 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • middle frontal gyrus

  • body of pancreas

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • stromal cell of endometrium

  • Descending thoracic aorta

  • ascending aorta

  • canal of the cervix

  • right uterine tube

  • body of uterus
Top expressed in
  • neural layer of retina

  • otolith organ

  • utricle

  • morula

  • retinal pigment epithelium

  • vestibular sensory epithelium

  • embryo

  • epithelium of lens

  • muscle of thigh

  • zygote
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
SpeciesHumanMouse
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 MbChr 11: 120.25 – 120.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000186765 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. 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.
  • GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview


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