FSCN2

fascin actin-bundling protein 2, retinal

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000186765
UniProt:
O14926
OMIM:
607643
Synonyms:
RFSN, RP30

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:11527955

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa(PMID: 11527955).