SYNE4 - spectrin repeat containing nuclear envelope family member 4 Gene

中文名称：含血影蛋白重复序列的核膜家族成员 4

种属: Homo sapiens

同用名: KASH4; Nesp4; DFNB76; C19orf46

基因 ID: 163183 | 基因类型: protein coding

关于 SYNE4

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,003,307-36,008,813 (from NCBI)

This gene has 7 transcripts (splice variants), 92 orthologues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 6.3), thyroid (RPKM 3.5) and 15 other tissues.

功能概要

该基因是 nesprin 基因家族的成员，编码包含 KASH (Klarsicht、Anc-1、Syne 同源) 结构域的蛋白质。除了 KASH 结构域之外，该蛋白质还包含一个卷曲螺旋和亮氨酸拉链区域、一个血影蛋白重复序列和一个驱动蛋白 1 结合区域。该蛋白定位于外核膜，是核膜中核骨架和细胞骨架 (LINC) 复合物连接子的一部分。 LINC 复合物由 SUN (Sad1、UNC-84) -KASH 对形成，被认为可将核成分机械耦合到细胞骨架。该基因的突变与进行性高频听力损失有关。小鼠体内缺乏这种蛋白质也会导致听力下降和耳朵毛细胞形态的变化。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 8 月]

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and Cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the Cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

SYNE4 基因产物(2)

mRNA	Protein	Name
NM_001039876.3	NP_001034965.1	nesprin-4 isoform 1
NM_001297735.3	NP_001284664.1	nesprin-4 isoform 2

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	21516116	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

SYNE4 蛋白结构

KASH

0
100
200
300
404 a.a.

蛋白主名

其他名称

nesprin-4

KASH domain-containing protein 4

SYNE4 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
Intra	SYNE4	Q8N205	ADIPOQ	Homo sapiens	A8K660	Validated Y2H	25416956
Intra	SYNE4	Q8N205	ADIPOQ	Homo sapiens	A8K660	Y2H Array	25416956
Intra	SYNE4	Q8N205	ZNF250	Homo sapiens	P15622-3	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ZNF250	Homo sapiens	P15622-3	Y2H Array	25416956
Intra	SYNE4	Q8N205	SLN	Homo sapiens	O00631	Y2H Array	25416956
Intra	SYNE4	Q8N205	ENTPD3	Homo sapiens	O75355	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SFTPC	Homo sapiens	P11686	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CLDN8	Homo sapiens	P56748	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CLDN8	Homo sapiens	P56748	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TTMP	Homo sapiens	Q5BVD1	Y2H Array	25416956
Intra	SYNE4	Q8N205	TTMP	Homo sapiens	Q5BVD1	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	DEFB121	Homo sapiens	Q5J5C9	Validated Y2H	25416956
Intra	SYNE4	Q8N205	DEFB121	Homo sapiens	Q5J5C9	Y2H Array	25416956
Intra	SYNE4	Q8N205	RIPPLY2	Homo sapiens	Q5TAB7	Y2H Array	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Y2H Array	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	BRICD5	Homo sapiens	Q6PL45	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM182	Homo sapiens	Q6ZP80	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMEM182	Homo sapiens	Q6ZP80	Y2H Array	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Y2H Array	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CSGALNACT2	Homo sapiens	Q8N6G5	Anti Tag CoIP	33961781
Intra	SYNE4	Q8N205	OSTCL	Homo sapiens	Q8TBU1	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMPRSS4	Homo sapiens	Q9NRS4-3	Y2H Array	25416956
Intra	SYNE4	Q8N205	TMEM248	Homo sapiens	Q9NWD8	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SUN2	Homo sapiens	Q9UH99	Pull Down	33058875
Intra	SYNE4	Q8N205	CD47	Homo sapiens	Q08722	Y2H Array	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CMTM5	Homo sapiens	Q96DZ9	Y2H Array	25416956
Intra	SYNE4	Q8N205	FAM241B	Homo sapiens	Q96D05	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ABT1	Homo sapiens	Q9ULW3	Y2H Array	25416956
Intra	SYNE4	Q8N205	OLFM4	Homo sapiens	Q6UX06	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM140	Homo sapiens	Q9NV12	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TMEM140	Homo sapiens	Q9NV12	Y2H Array	25416956
Intra	SYNE4	Q8N205	ITM2B	Homo sapiens	Q9Y287	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	OCLN	Homo sapiens	Q16625	Anti Tag CoIP	33961781
Intra	SYNE4	Q8N205	OCLN	Homo sapiens	Q16625	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TMEM147	Homo sapiens	Q9BVK8	Y2H Array	25416956
Intra	SYNE4	Q8N205	KTN1	Homo sapiens	Q86UP2	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KTN1	Homo sapiens	Q86UP2	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	ECE2	Homo sapiens	P0DPD8	Validated Y2H	25416956
Intra	SYNE4	Q8N205	ECE2	Homo sapiens	P0DPD8	Y2H Array	25416956
Intra	SYNE4	Q8N205	CXCL9	Homo sapiens	Q07325	Validated Y2H	25416956
Intra	SYNE4	Q8N205	CXCL9	Homo sapiens	Q07325	Y2H Array	25416956
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Y2H	21516116
Intra	SYNE4	Q8N205	CLEC7A	Homo sapiens	Q9BXN2	Validated Y2H	25416956
Intra	SYNE4	Q8N205	EMP1	Homo sapiens	P54849	Validated Y2H	25416956
Intra	SYNE4	Q8N205	SENP2	Homo sapiens	Q9HC62	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SENP2	Homo sapiens	Q9HC62	Validated Y2H	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Array	31515488
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Validated Y2H	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	VTI1B	Homo sapiens	Q9UEU0	Y2H Array	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TSPAN15	Homo sapiens	O95858	Y2H Array	25416956
Intra	SYNE4	Q8N205	CLDN7	Homo sapiens	O95471	Y2H Array	25416956
Intra	SYNE4	Q8N205	KLHL12	Homo sapiens	Q53G59	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KLHL12	Homo sapiens	Q53G59	Y2H Array	25416956
Intra	SYNE4	Q8N205	SEC23B	Homo sapiens	Q15437	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SEC23B	Homo sapiens	Q15437	Y2H Array	25416956
Intra	SYNE4	Q8N205	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Validated Y2H	25416956
Intra	SYNE4	Q8N205	TRIM69	Homo sapiens	Q86WT6	Y2H Array	25416956
Intra	SYNE4	Q8N205	MALL	Homo sapiens	Q13021	Validated Y2H	25416956
Intra	SYNE4	Q8N205	MALL	Homo sapiens	Q13021	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	KLRG1	Homo sapiens	Q96E93	Validated Y2H	25416956
Intra	SYNE4	Q8N205	KLRG1	Homo sapiens	Q96E93	Y2H Array	25416956
Intra	SYNE4	Q8N205	TMEM115	Homo sapiens	Q12893	Y2H Array	25416956
Intra	SYNE4	Q8N205	SMCO4	Homo sapiens	Q9NRQ5	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	25416956
Intra	SYNE4	Q8N205	SEC22A	Homo sapiens	Q96IW7	Y2H Prey Pooling	25416956
Intra	SYNE4	Q8N205	KLC4	Homo sapiens	Q9NSK0	Anti Tag CoIP	33961781

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

Deafness, Autosomal Recessive 76

DFNB76	Autosomal Recessive Nonsyndromic Deafness 76
Autosomal Recessive Deafness 76	Deafness, Autosomal Recessive, 76
Deafness, Autosomal Recessive, Type 76

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

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

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]

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

Malignant Otitis Externa

Necrotising Otitis Externa

Pseudomonas Aeruginosa Osteomyelitis Of The Temporal Bone

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 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

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-RS14088	SYNE4 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	SYNE4	VGNC	VGNC:52255
Rattus norvegicus	SYNE4	RGD	RGD:1304580
Macaca mulatta	SYNE4	VGNC	VGNC:78221
Mus musculus	SYNE4	MGD	MGI:2141950
Canis familiaris	SYNE4	VGNC	VGNC:47030

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）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

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