Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 282996
MIM: 613171
HGNC: 27424
Ensembl: ENSG00000203867
Variants:
dbSNP: 282996
ClinVar: 282996
TCGA: ENSG00000203867
COSMIC: RBM20
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203867 | ENST00000369519 | Q5T481 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37593875 | 2023 | Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants. | 2 |
| 37905768 | 2023 | [Research progress on the expression of the RBM20 gene in dilated cardiomyopathy]. | 0 |
| 37593875 | 2023 | Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants. | 2 |
| 37905768 | 2023 | [Research progress on the expression of the RBM20 gene in dilated cardiomyopathy]. | 0 |
| 35041844 | 2022 | RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates. | 9 |
| 36140694 | 2022 | SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20. | 4 |
| 36198914 | 2022 | I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy. | 4 |
| 35041844 | 2022 | RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates. | 9 |
| 36140694 | 2022 | SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20. | 4 |
| 36198914 | 2022 | I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy. | 4 |
| 33450993 | 2021 | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart. | 6 |
| 34174465 | 2021 | Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations. | 6 |
| 34201072 | 2021 | The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy. | 14 |
| 34333030 | 2021 | RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy. | 7 |
| 34732726 | 2021 | Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies. | 17 |
Citation
Dessen P
RBM20 (RNA binding motif protein 20)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54576/rbm20-(rna-binding-motif-protein-20)
