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RBM20

Chr 10q25.2

RNA binding motif protein 20

MANE:
ENST00000369519.4
OMIM: 613171 ↗NCBI: 282996 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Arrhythmogenic right ventricular cardiomyopathy

  • Hereditary neuropathy

  • Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

  • dilated cardiomyopathy 1DD

    0.83

  • dilated cardiomyopathy

    0.71

  • familial isolated dilated cardiomyopathy

    0.61

  • Abnormality of the cardiovascular system

    0.53

  • cardiomyopathy

    0.51

  • familial dilated cardiomyopathy

    0.50

  • left ventricular noncompaction

    0.42

  • dilated cardiomyopathy 1A

    0.41

  • atrial fibrillation

    0.41

  • Left ventricular noncompaction cardiomyopathy

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RNA-binding protein 20

RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH (PubMed:22466703, PubMed:24960161, PubMed:26604136, PubMed:27496873, PubMed:27531932, PubMed:29895960, PubMed:30948719, PubMed:32840935, PubMed:34732726, PubMed:35427468). Acts as a repressor of mRNA splicing: specifically binds the 5'UCUU-3' motif that is predominantly found within intronic sequences of pre-mRNAs, leading to the exclusion of specific exons in target transcripts (PubMed:24960161, PubMed:30948719, PubMed:34732726). RBM20-mediated exon skipping is hormone-dependent and is essential for TTN isoform transition in both cardiac and skeletal muscles (PubMed:27531932, PubMed:30948719). RBM20-mediated exon skipping of TTN provides substrates for the formation of circular RNA (circRNAs) from the TTN transcripts (PubMed:27531932, PubMed:34732726). Together with RBM24, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity)

Diseases associated with RBM20

Curated MONDO disease pages that list RBM20 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.