FSCN2 (fascin actin-bundling protein 2, retinal)

Gene

• Entrez ID: 25794
• Gene name: Fascin actin-bundling protein 2, retinal
• Gene symbol: FSCN2
• Synonyms (NCBI Gene): RFSN, RP30
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs182593453	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs368687488	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs370382419	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs376633374	G>-	Uncertain-significance, pathogenic, benign	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019017	hsa-miR-335-5p	Microarray	18185580
MIRT051107	hsa-miR-16-5p	CLASH	23622248
MIRT736178	hsa-miR-320a	Microarray, qRT-PCR, In situ hybridization	31837603

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007601	Process	Visual perception	TAS	10783262
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10783262
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0015629	Component	Actin cytoskeleton	TAS	10783262
GO:0016477	Process	Cell migration	IBA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051017	Process	Actin filament bundle assembly	TAS	10783262

Other IDs

• MIM: 607643
• HGNC: 3960
• e!Ensembl: ENSG00000186765

Protein

• UniProt ID: O14926
• Protein name: Fascin-2 (Retinal fascin)
• Protein function: Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06268	Fascin	20 → 133	Fascin domain	Domain
  PF06268	Fascin	141 → 254	Fascin domain	Domain
  PF06268	Fascin	266 → 376	Fascin domain	Domain
  PF06268	Fascin	389 → 492	Fascin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
• Sequence:

  MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQTWVLEPDPGQGTAVLL
  RSSHLGRYLSAEEDGRVACEAEQPGRDCRFLVLPQPDGRWVLRSEPHGRFFGGTEDQLSC
  FATAVSPAELWTVHLAIHPQAHLLSVSRRRYVHLCPREDEMAADGDKPWGVDALLTLIFR
  SRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGKLAFKDCDGHYLAPVGPAGTLKA
  GRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQGVNVSANQDDELDHETFLMQIDQET
  KKCTFYSSTGGYWTLVTHGGIHATATQVSANTMFEMEWRGRRVALKASNGRYVCMKKNGQ
  LAAISDFVGKDEEFTLKLINRPILVLRGLDGFVCHHRGSNQLDTNRSVYDVFHLSFSDGA
  YRIRGRDGGFWYTGSHGSVCSDGERAEDFVFEFRERGRLAIRARSGKYLRGGASGLLRAD
  ADAPAGTALWEY

• Sequence length: 492

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Retinal dystrophy	Likely pathogenic	rs2143845939, rs2544448905, rs760738833	RCV003889851 RCV003889857 RCV003889867

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Likely benign	rs750933358	RCV005928207
FSCN2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs782112521, rs782113712, rs535269969, rs745607542, rs782171838, rs750841687, rs1256667797, rs368687488, rs1048819854, rs200332556, rs554434984, rs781899862, rs782418159, rs150620080, rs200938099, rs398123553	RCV004757432 RCV003953755 RCV003920950 RCV004757452 RCV004757462 RCV003894171 RCV003944079 RCV003935600 RCV003928224 RCV003908064 RCV004731071 RCV003978003 RCV003933037 RCV003918656 RCV003945796 RCV003935027
Leber congenital amaurosis	Conflicting classifications of pathogenicity	rs376633374	RCV000144473
Macular degeneration	Conflicting classifications of pathogenicity	rs376633374	RCV000412604
Malignant tumor of esophagus	Likely benign	rs750933358	RCV005928208
Meniere disease	Uncertain significance	rs200258773, rs782561252, rs2544427235, rs781864584	RCV004571427 RCV004573340 RCV004574921 RCV004570421
Retinitis pigmentosa 30	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs137853900, rs184519759, rs376633374, rs756587145, rs34454351, rs188142101, rs200600577, rs189437871, rs370156011, rs181420326, rs374441539, rs200332556, rs1598582453, rs75815349, rs988890666, rs376938035	RCV000625404 RCV000625405 RCV000003079 RCV002471785 RCV002505245 RCV002492772 RCV005398938 RCV001001906 RCV001001792 RCV000764149 RCV000625406 RCV003605676 RCV000791185 RCV001000660 RCV001262935 RCV002497431
Sarcoma	Uncertain significance	rs988890666	RCV005912486

Associations from Text Mining
Disease Name	Relationship Type	References
Macular Degeneration	Associate	16280978
Retinal Dystrophies	Associate	34996991
Retinitis Pigmentosa	Associate	15994872, 16280978, 16799052