Entity Details

Primary name RBM20
Entity type gene
Source Source Link

Details

PrimaryID282996
RefseqGeneNG_021177
SymbolRBM20
NameRNA binding motif protein 20
Chromosome10
Location10q25.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRBM20_HUMAN

GO terms

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GOName
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005634 nucleus
GO:0006397 mRNA processing
GO:0007507 heart development
GO:0008270 zinc ion binding
GO:0008380 RNA splicing
GO:0033120 positive regulation of RNA splicing
GO:0043484 regulation of RNA splicing

Diseases

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Disease IDSourceNameDescription
613172 OMIMCardiomyopathy, dilated 1DD (CMD1DD)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.