RBM5: RNA Binding Motif Protein 5 – A Tumor Suppressor in Lung Cancer
Comprehensive genomic and functional overview of RBM5, a key regulator of apoptosis and splicing.
Gene Information Card
| Symbol | RBM5 |
|---|---|
| Full Name | RNA Binding Motif Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 10181 ncbi.nlm.nih.gov/gene/10181 |
| Ensembl ID | ENSG00000103710 |
| UniProt ID | P52756 |
| OMIM ID | 606889 |
| HGNC ID | 9902 |
| Aliases | H37, LUCA15, G15, FLJ12787 |
Description
RBM5 (RNA Binding Motif Protein 5) is a tumor suppressor gene located on chromosome 3p21.31, a region frequently deleted in lung and other cancers. It encodes an RNA-binding protein that regulates alternative splicing, apoptosis, and cell cycle progression. RBM5 modulates the splicing of apoptotic regulators such as FAS and caspase-2, promoting pro-apoptotic isoforms. Loss of RBM5 expression is associated with poor prognosis in non-small cell lung cancer (NSCLC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer (NSCLC) | Loss of RBM5 expression leads to reduced apoptosis and increased proliferation | PMID: 15696214, COSMIC |
| Breast cancer | Downregulation of RBM5 correlates with aggressive tumor features | PMID: 23468903 |
| Colorectal cancer | RBM5 suppresses tumor growth via splicing regulation of apoptotic genes | PMID: 25636800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 nTPM | Medium |
| Testis | 18.7 nTPM | High |
| Brain | 8.1 nTPM | Low |
| Heart | 6.5 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 14.2 nTPM | RBM5 expression reduced compared to normal lung |
| HEK293 (embryonic kidney) | 22.5 nTPM | High baseline expression |
| MCF7 (breast cancer) | 9.8 nTPM | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <1% | Loss of function – truncated protein |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.5% | Altered RNA binding domain |
| c.832G>A (p.Gly278Arg) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt RNA-binding domains are classified as loss-of-function, consistent with tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RBM5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RBM5.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • via spliceosome (GO:0000398) |
| • apoptotic process (GO:0006915) | • negative regulation of cell proliferation (GO:0008285) |
| • nucleus (GO:0005634) |
Pathways
• Alternative splicing regulation (Reactome: R-HSA-72163)
• Apoptosis (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
RBM5 encodes a 815-amino acid protein containing two RNA recognition motifs (RRMs) and a G-patch domain. It localizes to the nucleus and functions as a splicing factor, preferentially promoting pro-apoptotic splice variants of FAS and caspase-2. RBM5 also interacts with the spliceosomal complex and modulates cell cycle checkpoints. Its loss in cancer cells leads to increased survival and chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM5 Knockout HEK293 Cell Line | EDJ-KQ6936 | Human | 10181 | Details Get a Quote |
| RBM5 Knockout A-549 Cell Line | EDJ-KQ31588 | Human | 10181 | Details Get a Quote |
| RBM5 Knockout HCT 116 Cell Line | EDJ-KQ31589 | Human | 10181 | Details Get a Quote |
| RBM5 Knockout HeLa Cell Line | EDJ-KQ31590 | Human | 10181 | Details Get a Quote |
