RBM20 - RNA binding motif protein 20 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 282996

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables pre-mRNA intronic binding	IDA IDA: Inferred from direct assay	24960161	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables splicing factor binding	IDA IDA: Inferred from direct assay	24960161	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in heart formation	IDA IDA: Inferred from direct assay	30948719	GOA
involved in heart formation	IMP IMP: Inferred from mutant phenotype	22466703	GOA
involved in negative regulation of mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	24960161	GOA
involved in positive regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	22466703	GOA
involved in regulation of mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	30948719	GOA
involved in regulation of mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	26604136	GOA
involved in spliceosome-depend formation of circular RNA	IDA IDA: Inferred from direct assay	27531932	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	33188278	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	23886709	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBM20 Protein Structure

RRM_5

0
200
400
600
800
1000
1227 a.a.

Protein Preferred Names	Protein Names
RNA-binding protein 20	probable RNA-binding protein 20

RBM20 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	RBM20	Q5T481	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	RBM20	Q5T481	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS11739	RBM20 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RBM20	NCBI