Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25794
Gene name Gene Name - the full gene name approved by the HGNC.	Fascin actin-bundling protein 2, retinal
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FSCN2
Synonyms (NCBI Gene) Gene synonyms aliases	RFSN, RP30
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

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

Show/Hide all(3)

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

Show/Hide all(26)

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

MIM	HGNC	e!Ensembl
607643	3960	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

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leber Congenital Amaurosis	leber congenital amaurosis	N/A	N/A	ClinVar
Macular Degeneration	macular degeneration	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	retinitis pigmentosa 30	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (3)

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

FSCN2 (fascin actin-bundling protein 2, retinal)