2. Gene
  3. RBM20 - RNA binding motif protein 20 Gene

RBM20 - RNA binding motif protein 20 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 282996 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (537 - 591)

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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11739 RBM20 Human Pre-designed siRNA Set A Pre-designed Sets / 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