RBM24: RNA Binding Motif Protein 24
A key regulator of RNA processing in cardiac and skeletal muscle development
Gene Information Card
| Symbol | RBM24 |
|---|---|
| Full Name | RNA Binding Motif Protein 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 221662 ncbi.nlm.nih.gov/gene/221662 |
| Ensembl ID | ENSG00000112183 |
| UniProt ID | Q9BX46 |
| OMIM ID | 613986 |
| HGNC ID | 28399 |
| Aliases | RNPC1, Rbm24, RNA-binding motif protein 24 |
Description
RBM24 encodes an RNA-binding protein that plays a critical role in post-transcriptional regulation, including alternative splicing, mRNA stability, and translation. It is essential for cardiac and skeletal muscle development and differentiation. RBM24 binds to specific RNA motifs and regulates the expression of genes involved in sarcomere assembly and muscle function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy | RBM24 mutations disrupt RNA splicing of sarcomeric genes, leading to impaired cardiac contractility | ClinVar, OMIM |
| Skeletal muscle myopathy | Loss of RBM24 function alters myogenic differentiation and muscle fiber formation | NCBI Gene, PubMed |
| Congenital heart defects | RBM24 deficiency affects heart morphogenesis via misregulation of key developmental transcripts | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Testis | 12.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 62.4 | High expression during differentiation |
| Skeletal muscle myoblasts (C2C12) | 55.1 | Upregulated during myogenesis |
| HeLa | 2.3 | Low expression |
| HEK293 | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41*) | Nonsense | Rare | Loss of function; truncated protein |
| c.456G>A (p.Trp152*) | Nonsense | Rare | Premature stop; loss of RNA-binding domain |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Frameshift; loss of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent RBM24 protein, impairing RNA processing in muscle cells.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; likely haploinsufficiency mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72163)
• Muscle contraction (Reactome: R-HSA-397014)
• Cardiac conduction (Reactome: R-HSA-5576891)
Protein Summary
RBM24 is a 24 kDa RNA-binding protein containing an RNA recognition motif (RRM). It shuttles between nucleus and cytoplasm, binding to target mRNAs to regulate splicing, stability, and translation. RBM24 is highly expressed in heart and skeletal muscle, where it controls the expression of sarcomeric proteins and transcription factors essential for myogenesis. Loss-of-function mutations are associated with cardiomyopathy and myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM24 Knockout HEK293 Cell Line | EDJ-KQ2662 | Human | 221662 | Details Get a Quote |
| RBM24 Knockout A-549 Cell Line | EDJ-KQ23447 | Human | 221662 | Details Get a Quote |
| RBM24 Knockout HCT 116 Cell Line | EDJ-KQ23448 | Human | 221662 | Details Get a Quote |
| RBM24 Knockout HeLa Cell Line | EDJ-KQ59174 | Human | 221662 | Details Get a Quote |
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