FSCN2

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
FSCN2
Identifiers
AliasesFSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDsMGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for FSCN2
Genomic location for FSCN2
Band17q25.3Start81,528,396 bp[1]
End81,537,130 bp[1]
RNA expression pattern
PBB GE FSCN2 207204 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 120.36 – 120.37 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[edit]

  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:".
  4. ^ "Mouse PubMed Reference:".
  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[edit]

External links[edit]