FSCN2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
Identifiers
Symbols FSCN2 ; RFSN; RP30
External IDs OMIM607643 MGI2443337 HomoloGene22722 GeneCards: FSCN2 Gene
RNA expression pattern
PBB GE FSCN2 207204 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 25794 238021
Ensembl ENSG00000186765 ENSMUSG00000025380
UniProt O14926 Q32M02
RefSeq (mRNA) NM_001077182 NM_172802
RefSeq (protein) NP_001070650 NP_766390
Location (UCSC) Chr 17:
79.5 – 79.5 Mb
Chr 11:
120.36 – 120.37 Mb
PubMed search [1] [2]

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)". 

Further reading[edit]

External links[edit]