RBM20 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RBM20 |
| Official Name | RNA binding motif protein 20 [Source:HGNC Symbol;Acc:HGNC:27424] |
| Ensembl ID | ENSG00000203867 |
| Bio databases IDs | |
| Aliases | RNA binding motif protein 20 |
| Synonyms | 1110018J23Rik, 2010003H22Rik, RNA binding motif protein 20 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RBM20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- U1 zinc finger
- arginine-serine-rich domain
- protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- obesity
- COVID-19
- primary dilated cardiomyopathy
- cardiomyopathy
- dilated cardiomyopathy type 1DD
- cardioembolic stroke
- organismal death
- dilated cardiomyopathy 1S
- migraines
role in cell
- phosphorylation in
- alternative splicing by
- splicing by
- binding in
- splicing regulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cytoplasmic ribonucleoprotein granule
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBM20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing
- heart formation
- regulation of alternative nuclear mRNA splicing, via spliceosome
- negative regulation of nuclear mRNA splicing, via spliceosome
- positive regulation of RNA splicing
- regulation of RNA splicing
- regulation of nuclear mRNA splicing, via spliceosome
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- pre-mRNA intronic binding
- zinc ion binding
- RNA binding
- protein binding
- mRNA binding