RBM20
RNA Binding Motif Protein 20: A Key Regulator of Cardiac Splicing and Dilated Cardiomyopathy
Gene Information Card
| Symbol | RBM20 |
|---|---|
| Full Name | RNA Binding Motif Protein 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 282996 ncbi.nlm.nih.gov/gene/282996 |
| Ensembl ID | ENSG00000103811 |
| UniProt ID | Q5T481 |
| OMIM ID | 613171 |
| HGNC ID | 27424 |
| Aliases | DKFZp686K20127, FLJ14389, RSRC2 |
Description
RBM20 encodes a member of the serine/arginine-rich (SR) protein family that functions as a splicing regulator. It is predominantly expressed in the heart and skeletal muscle, where it controls alternative splicing of genes critical for cardiac structure and function, including TTN (titin). Mutations in RBM20 are a known cause of familial dilated cardiomyopathy (DCM) with variable penetrance and severity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy 1DD (CMD1DD) | Loss-of-function or dominant-negative mutations disrupt splicing of TTN and other cardiac transcripts, leading to sarcomere disorganization and contractile dysfunction. | OMIM #613172; ClinVar pathogenic variants |
| Dilated Cardiomyopathy (non-syndromic) | Missense mutations in the RS domain impair RNA binding and splicing regulation, causing DCM with high risk of arrhythmia and heart failure. | NCBI Gene; multiple publications |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal Muscle | 22.1 | Medium |
| Testis | 1.8 | Low |
| Brain | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 45.0 | High expression; used in functional studies |
| Skeletal muscle myoblasts | 18.5 | Moderate expression |
| HEK293 | 0.1 | Negligible; not endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg634Gln | Missense | ~2% of familial DCM | Dominant-negative; disrupts splicing regulation of TTN |
| p.Arg636Ser | Missense | Rare | Loss of RNA binding; severe DCM phenotype |
| p.Ser635Ala | Missense | Rare | Impaired nuclear localization and splicing activity |
| p.Glu913Lys | Missense | Rare | Reduced interaction with target pre-mRNAs |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function variants are rare; haploinsufficiency may contribute to DCM.
Gain of Function (GOF)
Not described; no evidence of gain-of-function mutations.
Dominant Negative (DN)
Most pathogenic missense mutations (e.g., p.Arg634Gln) act via dominant-negative mechanism, interfering with wild-type RBM20 splicing function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • nucleus (GO:0005634) |
| • cadherin binding (GO:0045296) |
Pathways
• Alternative splicing of cardiac sarcomere genes (TTN
• CAMK2D
• LDB3)
• mRNA splicing – major pathway
Protein Summary
RBM20 is a 1,227-amino acid nuclear protein containing an RNA recognition motif (RRM) and a serine/arginine-rich (RS) domain. It binds to specific sequence motifs in pre-mRNA targets, particularly in TTN, to regulate alternative splicing. The protein is essential for normal cardiac development and function; its dysregulation leads to dilated cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM20 Knockout HEK293 Cell Line | EDJ-KQ15005 | Human | 282996 | Details Get a Quote |
| RBM20 Knockout HCT 116 Cell Line | EDJ-KQ45530 | Human | 282996 | Details Get a Quote |
| RBM20 Knockout HeLa Cell Line | EDJ-KQ59372 | Human | 282996 | Details Get a Quote |
| RBM20 Knockout A-549 Cell Line | EDJ-KQ67834 | Human | 282996 | Details Get a Quote |
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