SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

中文名称：含血影蛋白重复序列的核膜家族成员 3

种属: Homo sapiens

同用名: KASH3; NET53; Nesp3; C14orf49; C14orf139; LINC00341; NCRNA00341

基因 ID: 161176 | 基因类型: protein coding

关于 SYNE3

Cytogenetic location: 14q32.13 Genomic coordinates (GRCh38): 14:95,407,266-95,516,650 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and 36 paralogues. Ubiquitous expression in fat (RPKM 4.3), bone marrow (RPKM 3.9) and 24 other tissues.

功能概要

启用肌动蛋白丝结合活性和细胞骨架-核膜锚定活性。参与细胞骨架组织；建立蛋白质在膜上的定位；和细胞形状的调节。位于核膜。减数分裂核膜微管束缚复合体的一部分。亨廷顿病的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in Cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]

SYNE3 基因产物(6)

mRNA	Protein	Name
NM_001363692.2	NP_001350621.1	nesprin-3 isoform 2
NM_001384281.1	NP_001371210.1	nesprin-3 isoform 3
NM_001384282.1	NP_001371211.1	nesprin-3 isoform 3
NM_001384283.1	NP_001371212.1	nesprin-3 isoform 4
NM_001384284.1	NP_001371213.1	nesprin-3 isoform 5
NM_152592.6	NP_689805.3	nesprin-3 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables actin filament binding	IMP IMP: 通过突变表型推断	22518138	GOA
enables cytoskeleton-nuclear membrane anchor activity	IDA IDA: 通过直接分析推断	18396275	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18396275	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cytoskeleton organization	IMP IMP: 通过突变表型推断	21937718	GOA
involved in establishment of protein localization to membrane	IDA IDA: 通过直接分析推断	22518138	GOA
involved in regulation of cell shape	IMP IMP: 通过突变表型推断	21937718	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of meiotic nuclear membrane microtubule tethering complex	IDA IDA: 通过直接分析推断	18396275	GOA
located in nuclear envelope	IDA IDA: 通过直接分析推断	21937718	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

SYNE3 蛋白结构

Spectrin

KASH

0
200
400
600
800
975 a.a.

蛋白主名

其他名称

nesprin-3

KASH domain-containing protein 3

SYNE3 抗体

目录号	产品名	应用	反应物种
HY-P81626	Nesprin3 Antibody (YA1371)	WB	Human

关联疾病

疾病名称

别名

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3	Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive	Emery-Dreifuss Muscular Dystrophy 3

Emery-Dreifuss Muscular Dystrophy

Edmd	Emery-Dreifuss Syndrome
Muscular Dystrophy, Emery-Dreifuss	Humeroperoneal Neuromuscular Disease
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	Scapuloperoneal Syndrome, X-Linked
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures	Muscular Dystrophy, Emery-Dreifuss Type
Muscular Dystrophy Emery-Dreifuss	Dystrophy, Muscular, Emery-Dreifuss
Emd - [Emery-Dreifuss Muscular Dystrophy]

Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Emd2	Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
Scapuloilioperoneal Atrophy With Cardiopathy	Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
Hauptmann-Thannhauser Muscular Dystrophy	Cardiomyopathy, Dilated, With Quadriceps Myopathy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly	Lgmd1b, Formerly
Muscular Dystrophy, Proximal, Type 1b, Formerly	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Lgmd1b	Limb-Girdle Muscular Dystrophy 1b
Muscular Dystrophy, Proximal, Type 1b	Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1	Emd1
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	X-Linked Emery-Dreifuss Muscular Dystrophy 1
Humeroperoneal Neuromuscular Disease	X-Linked Emery-Dreifuss Muscular Dystrophy
Scapuloperoneal Syndrome, X-Linked, Formerly	Humeroperoneal Neuromuscular Disease, Formerly
Scapuloperoneal Syndrome, X-Linked	Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
Scapuloperoneal Syndrome X-Linked	X-Edmd
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a	Cdcd1
CMD1A	Cardiomyopathy, Familial Idiopathic
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Cardiomyopathy, Dilated, With Conduction Defect 1
Cardiomyopathy, Idiopathic Dilated	Cardiomyopathy, Congestive
Dilated Cardiomyopathy With Conduction Defect 1	Cardiomyopathy Dilated With Conduction Defect Type 1
Cardiomyopathy, Dilated 1a	Cardiomyopathy Dilated With Conduction Defect 1
Cardiomyopathy, Dilated, Type 1a

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h	Dilated Cardiomyopathy With Conduction Defect
CMD1H	Cardiomyopathy, Dilated, With Conduction Defect

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-RS14087	SYNE3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SYNE3	VGNC	VGNC:78176
Rattus norvegicus	SYNE3	RGD	RGD:1304563
Canis familiaris	SYNE3	VGNC	VGNC:47029
Bos taurus	SYNE3	VGNC	VGNC:35522
Mus musculus	SYNE3	MGD	MGI:2442408
Felis catus	SYNE3	VGNC	VGNC:65883

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

关于 SYNE3

功能概要

SYNE3 基因产物(6)

SYNE3 蛋白结构

SYNE3 抗体

关联疾病

直系同源

热门区域

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SYNE3 - spectrin repeat containing nuclear envelope family member 3 Gene

关于 SYNE3

功能概要

SYNE3 基因产物(6)

SYNE3 蛋白结构

SYNE3 抗体

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