RBM20 - RNA binding motif protein 20 Gene

中文名称：RNA 结合基序蛋白 20

种属: Homo sapiens

基因 ID: 282996 | 基因类型: protein coding

关于 RBM20

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,643,245-110,839,468 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 10.3), salivary gland (RPKM 1.2) and 5 other tissues.

功能概要

该基因编码一种结合 RNA 并调节剪接的蛋白质。该基因的突变与家族性扩张型心肌病有关。[RefSeq 提供，2014 年 4 月]

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

RBM20 基因产物(1)

mRNA	Protein	Name
NM_001134363.3	NP_001127835.2	RNA-binding protein 20

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 pre-mRNA intronic binding	IDA IDA: 通过直接分析推断	24960161	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables splicing factor binding	IDA IDA: 通过直接分析推断	24960161	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in heart formation	IDA IDA: 通过直接分析推断	30948719	GOA
involved in heart formation	IMP IMP: 通过突变表型推断	22466703	GOA
involved in negative regulation of mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	24960161	GOA
involved in positive regulation of RNA splicing	IMP IMP: 通过突变表型推断	22466703	GOA
involved in regulation of mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	30948719	GOA
involved in regulation of mRNA splicing, via spliceosome	IMP IMP: 通过突变表型推断	26604136	GOA
involved in spliceosome-depend formation of circular RNA	IDA IDA: 通过直接分析推断	27531932	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasmic ribonucleoprotein granule	IDA IDA: 通过直接分析推断	33188278	GOA
is active in nucleus	IDA IDA: 通过直接分析推断	23886709	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

RBM20 蛋白结构

RRM_5

0
200
400
600
800
1000
1227 a.a.

蛋白主名

其他名称

RNA-binding protein 20

probable RNA-binding protein 20

RBM20 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	RBM20	Q5T481	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
种属内	RBM20	Q5T481	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183

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

Cardiomyopathy, Dilated, 1dd

Dilated Cardiomyopathy 1dd	CMD1DD
Cardiomyopathy, Dilated 1dd	Cardiomyopathy, Dilated, Type 1dd

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, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

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

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1	Cardiomyopathy, Dilated 1b
CMD1B	Cmpd1
Cardiomyopathy, Familial Dilated	Fdc
Dilated Cardiomyopathy 1b	Familial 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

Mitochondrial Dna Depletion Syndrome 12b

Diastolic Heart Failure

Heart Failure, Diastolic

Peripartum Cardiomyopathy

Postpartum Cardiomyopathy	Peripartum Cardiomyopathy, Susceptibility To
Ppcm	Ppcm, Susceptibility To
Antepartum Peripartum Cardiomyopathy	Postpartum Peripartum Cardiomyopathy
Meadows' Syndrome	Cardiomyopathy, Peripartum

Intrinsic Cardiomyopathy

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

Restrictive Cardiomyopathy

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

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

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-RS11739	RBM20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	RBM20	VGNC	VGNC:45414
Bos taurus	RBM20	VGNC	VGNC:33791
Felis catus	RBM20	VGNC	VGNC:64524
Rattus norvegicus	RBM20	RGD	RGD:1307427
Macaca mulatta	RBM20	VGNC	VGNC:106096
Mus musculus	RBM20	MGD	MGI:1920963

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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）

RBM20 - RNA binding motif protein 20 Gene

关于 RBM20

功能概要

RBM20 基因产物(1)

RBM20 蛋白结构

RBM20 蛋白互作信息

关联疾病

直系同源

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RBM20 - RNA binding motif protein 20 Gene

关于 RBM20

功能概要

RBM20 基因产物(1)

RBM20 蛋白结构

RBM20 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

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J

L

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Q

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