Gene: RBM20

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.2

Description of this Gene: RNA binding motif protein 20

Type of Gene: protein-coding

rs10749053 in RBM20 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs267607002 in RBM20 gene and Cardiomyopathy, Dilated PMID 22004663 2012 Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

PMID 22561820 2012 King of hearts: a splicing factor rules cardiac proteins.

PMID 19712804 2009 Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

PMID 26604136 2016 Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.

PMID 22466703 2012 RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

PMID 20590677 2010 Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

PMID 23861363 2013 Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

PMID 27496873 2016 A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

rs267607001 in RBM20 gene and Cardiomyopathy, Dilated, 1DD PMID 20590677 2010 Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

PMID 22004663 2012 Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 19712804 2009 Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

PMID 22466703 2012 RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

PMID 2204663 1990 [Successful mitral valve replacement for infective endocarditis in pregnancy].

PMID 26084686 2015 Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

PMID 23861363 2013 Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 23886709 2013 Identification of nuclear retention domains in the RBM20 protein.

PMID 26604136 2016 Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.

PMID 27496873 2016 A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

rs10787268 in RBM20 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.