FSCN2 - fascin actin-bundling protein 2, retinal Gene

Homo sapiens

Also known as RFSN; RP30

Gene ID: 25794 | Gene type: protein coding

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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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