Basic Information

Symbol
RBM20
RNA class
mRNA
Alias
RNA Binding Motif Protein 20 RNA-Binding Protein 20 Probable RNA-Binding Protein 20 RNA-Binding Motif Protein 20
Location (GRCh38)
10:110643948-110839471
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001134363.3
Sequence length
7293.0 nt
GC content
0.5102

Transcripts

ID Sequence Length GC content
NM_001134363.3 NCBI
GCGCCACCGGGAAGGACAAGGGGACUGGGCACGGGGACCCCGGCCAGUG… 7293 nt 0.5102
Summary

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]

Forensic Context

A study in humans demonstrated that RNA sequencing of cardiac and skeletal muscle from a sudden death patient identified an I536T variant in RBM20 via clinical exome sequencing, but this variant did not cause the expected abnormal TTN splicing, indicating it was not causative for the fatal event [Yamamoto et al. DOI:10.1016/j.forsciint.2019.109906]. Another human study identified RBM20 as a protein-coding gene neighbor of a novel long noncoding RNA that was up-regulated in ischemic cardiomyopathy, though its specific forensic application was not the primary focus of that investigation [Firat et al. DOI:10.1016/j.heliyon.2023.e13087].