• Gene id: 25794

Gene Summary

• Gene Symbol: FSCN2   Gene   UCSC   Ensembl
• Aliases: RFSN, RP30
• Gene name: fascin actin-bundling protein 2, retinal
• Alternate names: fascin-2, fascin homolog 2, actin-bundling protein, retinal,
• Gene location: 17q25.3 (81513018: 81537129)     Exons: 9     NC_000017.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: O14926  
  • Name: Fascin 2 (Retinal fascin)
  • Length: 492  
  • Mass: 55057
  • Tissue specificity: Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
• Sequence:

  MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQTWVLEPDPGQGTAVLLRSSHLGRYLSAEEDG
  RVACEAEQPGRDCRFLVLPQPDGRWVLRSEPHGRFFGGTEDQLSCFATAVSPAELWTVHLAIHPQAHLLSVSRRR
  YVHLCPREDEMAADGDKPWGVDALLTLIFRSRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGKLAFKDCD
  GHYLAPVGPAGTLKAGRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQGVNVSANQDDELDHETFLMQIDQET
  KKCTFYSSTGGYWTLVTHGGIHATATQVSANTMFEMEWRGRRVALKASNGRYVCMKKNGQLAAISDFVGKDEEFT
  LKLINRPILVLRGLDGFVCHHRGSNQLDTNRSVYDVFHLSFSDGAYRIRGRDGGFWYTGSHGSVCSDGERAEDFV
  FEFRERGRLAIRARSGKYLRGGASGLLRADADAPAGTALWEY

• Structural information:
  • Interpro: IPR008999  IPR010431  IPR022768  IPR024703  IPR030144  
  • CDD: cd00257
  • STRING: ENSP00000334665
• Other Databases: GeneCards:  FSCN2  Malacards:  FSCN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0007163	establishment or maintenance of cell polarity	IBA	biological process
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0016477	cell migration	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0007015	actin filament organization	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0051017	actin filament bundle assembly	TAS	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:0051015	actin filament binding	ISS	molecular function

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:11527955
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray