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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RBM20
RNA binding motif protein 20
Chromosome 10 Β· 10q25.2
NCBI Gene: 282996Ensembl: ENSG00000203867.10HGNC: HGNC:27424UniProt: Q5T481
66PubMed Papers
21Diseases
0Drugs
105Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
heart formationnucleuscytoplasmic ribonucleoprotein granuleprotein bindingdilated cardiomyopathy 1DDdilated cardiomyopathyAbnormality of the cardiovascular systemcardiomyopathy
✦AI Summary

RBM20 is a muscle-specific RNA-binding protein that functions as a splicing regulator essential for cardiac function 1. It acts as a repressor of mRNA splicing by binding the 5'UCUU-3' motif in intronic sequences, leading to exon skipping in target genes including TTN (titin), CACNA1C, CAMK2D, and PDLIM5 2. RBM20-mediated splicing is critical for titin isoform transitions that regulate ventricular filling and cardiac adaptive responses 2. Beyond titin regulation, RBM20 coordinates splicing of ~30 conserved genes enriched for cardiomyopathy-linked, ion-handling, and sarcomere proteins 2. Pathogenic RBM20 variants cause aggressive dilated cardiomyopathy (DCM) with early-onset heart failure and high mortality 1. RBM20 mutations demonstrate definitive evidence for monogenic DCM 3. Disease mechanisms involve both disrupted splicing and protein mislocalization: variants in the arginine-serine-rich domain cause nuclear export defects and aberrant cytoplasmic ribonucleoprotein granule formation 4. Notably, RBM20 mutation carriers exhibit increased ventricular arrhythmia risk (44% vs. 5% in TTN carriers) 5, linked to aberrant CAMK2D splicing causing calcium overload and spontaneous sarcoplasmic reticulum calcium releases 5. Recent therapeutic advances include adenine base editing and prime editing strategies that successfully correct pathogenic mutations, restore nuclear localization, normalize splicing, and extend lifespan in disease models 4.

Sources cited
1
RBM20 is a vertebrate- and muscle-specific RNA-binding protein; pathogenic variants cause aggressive dilated cardiomyopathy with early-onset heart failure and high mortality; variants cause disrupted splicing and RBM20 mislocalization with biomolecular condensate formation
PMID: 38288598
2
RBM20 mutations underlie dilated cardiomyopathy; RBM20 regulates titin splicing; ~30 genes show RBM20-dependent splicing regulation enriched for cardiomyopathy-linked genes and ion homeostasis genes
PMID: 22466703
3
RBM20 has definitive evidence for monogenic dilated cardiomyopathy classification
PMID: 33947203
4
RBM20 mutations cause increased ventricular arrhythmias compared to TTN mutations; loss of RBM20 disturbs calcium handling through aberrant CAMK2D splicing leading to calcium overload and proarrhythmic effects
PMID: 29650543
5
RBM20 mutations in the RS-rich domain cause protein mislocalization and RNP granule formation; adenine base editing and prime editing can correct mutations, restore nuclear localization, normalize splicing, and extend lifespan in disease models
PMID: 36417486
6
LGE is absent or rare (5%) in RBM20-variant dilated cardiomyopathy patients
PMID: 37562008
Disease Associationsβ“˜21
dilated cardiomyopathy 1DDOpen Targets
0.83Strong
dilated cardiomyopathyOpen Targets
0.71Strong
Abnormality of the cardiovascular systemOpen Targets
0.53Moderate
cardiomyopathyOpen Targets
0.51Moderate
familial dilated cardiomyopathyOpen Targets
0.48Moderate
atrial fibrillationOpen Targets
0.43Moderate
left ventricular noncompactionOpen Targets
0.42Moderate
dilated cardiomyopathy 1AOpen Targets
0.41Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.37Weak
Left ventricular noncompaction cardiomyopathyOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.36Weak
thyroiditisOpen Targets
0.28Weak
Precordial painOpen Targets
0.28Weak
Meniere diseaseOpen Targets
0.23Weak
response to antihypertensive drugOpen Targets
0.21Weak
hypertrophic cardiomyopathyOpen Targets
0.21Weak
cardioembolic strokeOpen Targets
0.20Weak
familial hypertrophic cardiomyopathyOpen Targets
0.18Weak
autosomal dominant dilated cardiomyopathyOpen Targets
0.18Weak
Cardiomyopathy, dilated, 1DDUniProt
Pathogenic Variants105
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 634
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)Pathogenic
Primary dilated cardiomyopathy|not provided|Dilated cardiomyopathy 1DD|Cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 913
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)Pathogenic
Dilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|not provided|Cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiovascular phenotype|RBM20-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 636
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 634
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Dilated cardiomyopathy 1A|RBM20-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 638
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)Pathogenic
not provided|Dilated cardiomyopathy 1DD
β˜…β˜…β˜†β˜†2025β†’ Residue 154
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Primary dilated cardiomyopathy|Cardiovascular phenotype|Primary familial dilated cardiomyopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 636
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)Pathogenic
not specified|Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype|Primary dilated cardiomyopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 636
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜…β˜†β˜†2024β†’ Residue 636
NM_001134363.3(RBM20):c.2389dup (p.His797fs)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026β†’ Residue 797
NM_001134363.3(RBM20):c.604del (p.Gly201_Val202insTer)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026β†’ Residue 201
NM_001134363.3(RBM20):c.3451+2T>GLikely pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026
NM_001134363.3(RBM20):c.826del (p.Ala276fs)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026β†’ Residue 276
NM_001134363.3(RBM20):c.406C>T (p.Gln136Ter)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026β†’ Residue 136
NM_001134363.3(RBM20):c.2521del (p.Arg841fs)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2026β†’ Residue 841
NM_001134363.3(RBM20):c.522del (p.Ser175fs)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2025β†’ Residue 175
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2025β†’ Residue 663
NM_001134363.3(RBM20):c.1155_1209dup (p.Gly404delinsProGlyValAlaIleCysAlaAlaProAlaGlySerTer)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2025β†’ Residue 404
NM_001134363.3(RBM20):c.2551-1G>ALikely pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2025
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)Pathogenic
Dilated cardiomyopathy 1DD
β˜…β˜†β˜†β˜†2025β†’ Residue 856
View on ClinVar β†—
Related Genes
DSG2Protein interaction81%EYA4Protein interaction81%MYBPC3Protein interaction81%TMPOProtein interaction81%CSRP3Protein interaction81%ABCC9Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Ovary
5%
Lung
1%
Brain
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RBM20DSG2EYA4MYBPC3TMPOCSRP3ABCC9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5T481
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.44 [0.34–0.57]
RankingsWhere RBM20 stands among ~20K protein-coding genes
  • #7,111of 20,598
    Most Researched66
  • #741of 5,498
    Most Pathogenic Variants105 Β· top quartile
  • #3,729of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedRBM20
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
PMID: 38288598
Circ Genom Precis Med Β· 2024
1.00
2
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
PMID: 33947203
Circulation Β· 2021
0.90
3
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
PMID: 29650543
Circulation Β· 2018
0.80
4
Metabolic Maturation Media Improve Physiological Function of Human iPSC-Derived Cardiomyocytes.
PMID: 32697997
Cell Rep Β· 2020
0.70
5
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
PMID: 22466703
Nat Med Β· 2012
0.60