RNA binding motif protein 20 (RBM20)

RNA binding motif protein 20 (RBM20) is a large, muscle-specific and vertebrate splicing factor encoded by the *RBM20* gene on chromosome 10 (human). The protein is 1227 amino acids long and features several key domains: an N-terminal RNA Recognition Motif (RRM), two U1-type zinc finger domains, a large serine-arginine-rich (RS) domain, and regions rich in proline, leucine, and glutamate. RBM20 acts primarily as an alternative splicing repressor, regulating cardiac-specific isoforms of muscle proteins—most notably titin—critical for heart development and function. Mutations in *RBM20* are strongly linked to dilated and hypertrophic cardiomyopathies, with pathogenic variants often causing mislocalization and destabilization of the protein and subsequent splicing defects. RBM20 also has defined roles in neuronal RNA metabolism, binding and regulating long intronic transcripts in specific neural cell types. Approaches to modulate RBM20 activity or function are of therapeutic interest, but no approved drugs directly target RBM20. Challenges include tissue specificity, broad impact on alternative splicing, and risk of unintended effects in both heart and neural cells[2][3][1].

Other names

RNA-binding motif protein 20RNA-binding protein 20Probable RNA-binding protein 20RBM20

Modulation of RNA splicing via direct or indirect targeting of RBM20 activity; Correcting RBM20 missplicing or mislocalization to restore normal transcript isoforms of cardiac proteins (titin, CAMK2D)