NEBL - nebulette Gene

中文名称：星云

种属: Homo sapiens

同用名: LASP2; LNEBL; C10orf113; bA165O3.1

基因 ID: 10529 | 基因类型: protein coding

关于 NEBL

Cytogenetic location: 10p12.31 Genomic coordinates (GRCh38): 10:20,779,973-21,293,050 (from NCBI)

This gene has 24 transcripts (splice variants), 221 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in heart (RPKM 103.7), thyroid (RPKM 26.9) and 7 other tissues.

功能概要

该基因编码一种在心肌中大量表达的类星云蛋白。编码的蛋白质结合肌动蛋白并与横纹肌中的细丝和 Z 线相关蛋白相互作用。该蛋白可能参与心肌原纤维组装。这种称为 LIM nebulette 的蛋白质的较短亚型在非肌肉细胞中表达，可能作为粘着斑复合物的一个组成部分发挥作用。交替剪接导致多个转录本变体。[RefSeq 提供，2010 年 3 月]

This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

NEBL 基因产物(10)

mRNA	Protein	Name
NM_001173484.2	NP_001166955.1	nebulette isoform 3
NM_001377322.1	NP_001364251.1	nebulette isoform 4
NM_001377323.1	NP_001364252.1	nebulette isoform 5
NM_001377324.1	NP_001364253.1	nebulette isoform 6
NM_001377325.1	NP_001364254.1	nebulette isoform 7
NM_001377326.1	NP_001364255.1	nebulette isoform 8
NM_001377327.1	NP_001364256.1	nebulette isoform 8
NM_001377328.1	NP_001364257.1	nebulette isoform 8
NM_006393.3	NP_006384.1	nebulette isoform 1
NM_213569.2	NP_998734.1	nebulette isoform 2

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	IDA IDA: 通过直接分析推断	10470015	GOA
enables cytoskeletal protein binding	IDA IDA: 通过直接分析推断	10470015	GOA
enables cytoskeletal protein binding	IPI IPI: 通过物理相互作用推断	17987659	GOA
enables filamin binding	IPI IPI: 通过物理相互作用推断	17987659	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11309420	GOA
enables tropomyosin binding	IPI IPI: 通过物理相互作用推断	17987659	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cardiac muscle thin filament assembly	IMP IMP: 通过突变表型推断	11822876	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Z disc	IDA IDA: 通过直接分析推断	10470015	GOA
located in stress fiber	IDA IDA: 通过直接分析推断	10470015	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

NEBL 蛋白结构

Nebulin

SH3_9

0
200
400
600
800
1014 a.a.

蛋白主名

其他名称

nebulette

LIM and SH3 protein 2

关联疾病

疾病名称

别名

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis	Elastomyofibrosis
EFE	Efe - [Endocardial Fibroelastosis]
Primary Endocardial Fibroelastosis	Fibroelastosis Cordis
Fetal Endocarditis	Fibroelastosis
Congenital Endocardial Fibroelastosis	Congenital Valvular Endocarditis

Sarcomatoid Renal Cell Carcinoma

Renal Cell Carcinoma, Spindle Cell

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Familial Hypertrophic, 26

Hypertrophic Cardiomyopathy 26	CMH26
Cardiomyopathy, Familial Restrictive 5	Cardiomyopathy, Familial Restrictive, 5
Cardiomyopathy Familial Hypertrophic 26	Cardiomyopathy, Familial Hypertrophic 26
RCM5

Myopathy, Spheroid Body

Spheroid Body Myopathy	Autosomal Dominant Spheroid Body Myopathy
SBM

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10	ARVD10
Arrhythmogenic Right Ventricular Cardiomyopathy 10	Arvc10
Familial Arrhythmogenic Right Ventricular Dysplasia 10	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Dedifferentiated Liposarcoma

Ddls	Liposarcoma Dedifferentiated
Liposarcoma, Dedifferentiated

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy	Desmin-Related Myopathy
MFM1	Myopathy, Myofibrillar, Desmin-Related
Drm	Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy	Myofibrillar Myopathy 1
Desminopathy	Muscular Dystrophy, Limb-Girdle, Type 2r
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7	Desminopathy, Primary
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly	Arvd7, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly	Arvc7, Formerly
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly	Ibm1, Formerly
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly	Cmd1f And Lgmd1d, Formerly
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy	Cdcd3, Formerly
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly	Lgmd2r, Formerly
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r	Arrhythmogenic Right Ventricular Cardiomyopathy 7
Arvc7	Arvd7
Autosomal Dominant Inclusion Body Myopathy 1	Cdcd3
Cmd1f And Lgmd1d	Desminopathy Primary
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d	Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
Familial Arrhythmogenic Right Ventricular Dysplasia 7	Lgmd2r
Limb-Girdle Muscular Dystrophy 2r	Mfm Desmin-Related
Myopathy Myofibrillar Desmin-Related	Dystrophy, Muscular, Limb-Girdle, Type 2r

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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-RS09169	NEBL Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	NEBL	VGNC	VGNC:75195
Bos taurus	NEBL	VGNC	VGNC:57012
Canis familiaris	NEBL	VGNC	VGNC:43713
Rattus norvegicus	NEBL	RGD	RGD:1308315
Mus musculus	NEBL	MGD	MGI:1921353

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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）

NEBL - nebulette Gene

关于 NEBL

功能概要

NEBL 基因产物(10)

NEBL 蛋白结构

关联疾病

直系同源

热门区域

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NEBL - nebulette Gene

关于 NEBL

功能概要

NEBL 基因产物(10)

NEBL 蛋白结构

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