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FSCN2

From Wikipedia, the free encyclopedia
FSCN2
Identifiers
AliasesFSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDsOMIM: 607643; MGI: 2443337; HomoloGene: 22722; GeneCards: FSCN2; OMA:FSCN2 - orthologs
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: 120.25 – 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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186765Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025380Ensembl, 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

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