FSCN2

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FSCN2
Identifiers
Aliases FSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDs MGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2
RNA expression pattern
PBB GE FSCN2 207204 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077182
NM_012418

NM_172802

RefSeq (protein)

NP_001070650
NP_036550

NP_766390.2
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[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)". 

Further reading[edit]

External links[edit]