FSCN2 - fascin actin-bundling protein 2, retinal Gene

Also Known as RFSN; RP30

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25794

About FSCN2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,515,062-81,537,130 (from NCBI)

This gene has 3 transcripts (splice variants), 259 orthologues, 2 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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 one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FSCN2 Products (2)

mRNA	Protein	Name
NM_001077182.3	NP_001070650.1	fascin-2 isoform 2
NM_012418.4	NP_036550.1	fascin-2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FSCN2 Protein Structure

Fascin

0
100
200
300
400
492 a.a.

Protein Preferred Names	Protein Names
fascin-2	fascin homolog 2, actin-bundling protein, retinal

FSCN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 30	RP30 Retinitis Pigmentosa-30 Retinitis Pigmentosa, Type 30
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Pseudoretinitis Pigmentosa	Secondary Pigmentary Retinal Degeneration Secondary Pigmentary Degeneration Of Retina
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Retinitis Pigmentosa 37	RP37 Retinitis Pigmentosa-37 Retinitis Pigmentosa, Type 37
Retinal Degeneration	Degeneration Of Retina
Retinitis Pigmentosa 9	RP9 Retinitis Pigmentosa-9 Retinitis Pigmentosa, Type 9
Deafness, Autosomal Dominant 58	DFNA58 Autosomal Dominant Nonsyndromic Deafness 58 Autosomal Dominant Deafness 58
Retinitis Pigmentosa 17	RP17 Retinitis Pigmentosa-17 Retinitis Pigmentosa, Type 17
Acute Hemorrhagic Leukoencephalitis	Ahl Acute Haemorrhagic Leucoencephalitis Of Weston Hurst Leukoencephalitis, Acute Hemorrhagic Acute Hemorrhagic Encephalomyelitis Acute Necrotizing Hemorrhagic Leukoencephalitis Weston-Hurst Syndrome Ahle Acute Haemorrhagic Leucoencephalitis Hurst Disease Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal Postimmunization Or Postvaccinal Leukoencephalopathy
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Cone-Rod Dystrophy 15	Retinitis Pigmentosa 65 CORD15 Dystrophy, Cone-Rod, Type 15
Chronic Interstitial Cystitis
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05120	FSCN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FSCN2	VGNC	VGNC:29127
Felis catus	FSCN2	VGNC	VGNC:62373
Macaca mulatta	FSCN2	VGNC	VGNC:72820
Rattus norvegicus	FSCN2	RGD	RGD:1308941
Mus musculus	FSCN2	MGD	MGI:2443337
Canis familiaris	FSCN2	VGNC	VGNC:40991
Others	FSCN2	NCBI