FSCN2 - fascin actin-bundling protein 2, retinal Gene

中文名称：肌成束蛋白肌动蛋白结合蛋白 2，视网膜

种属: Homo sapiens

同用名: RFSN; RP30

基因 ID: 25794 | 基因类型: protein coding

关于 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.

功能概要

该基因编码肌成束蛋白家族的一个成员。 Fascins 将肌动蛋白交联成动态细胞延伸内的丝状束。该家族成员被认为在光感受器盘形态发生中发挥作用。该基因的突变导致一种形式的常染色体显性遗传性视网膜色素变性和黄斑变性。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(2)

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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FSCN2 蛋白结构

Fascin

0
100
200
300
400
492 a.a.

蛋白主名

其他名称

fascin-2

fascin homolog 2, actin-bundling protein, retinal

FSCN2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
种属内	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
种属内	FSCN2	O14926	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
种属内	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
种属内	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
种属内	FSCN2	O14926	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05120	FSCN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

FSCN2 - fascin actin-bundling protein 2, retinal Gene

关于 FSCN2

功能概要

FSCN2 基因产物(2)

FSCN2 蛋白结构

FSCN2 蛋白互作信息

关联疾病

直系同源

热门区域

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FSCN2 - fascin actin-bundling protein 2, retinal Gene

关于 FSCN2

功能概要

FSCN2 基因产物(2)

FSCN2 蛋白结构

FSCN2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z