RBM4: RNA Binding Motif Protein 4
A multifunctional RNA-binding protein involved in alternative splicing, translation regulation, and cellular stress response.
Gene Information Card
| Symbol | RBM4 |
|---|---|
| Full Name | RNA Binding Motif Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 5936 ncbi.nlm.nih.gov/gene/5936 |
| Ensembl ID | ENSG00000173933 |
| UniProt ID | Q9BWF3 |
| OMIM ID | 602276 |
| HGNC ID | 9902 |
| Aliases | LARK, ZCCHC21, RBM4A |
Description
RBM4 (RNA Binding Motif Protein 4) encodes a member of the RNA-binding motif (RBM) family. The protein contains two N-terminal RNA recognition motifs (RRMs) and a C-terminal retroviral-type zinc finger domain. It functions as a splicing regulator, modulating alternative splicing of pre-mRNAs, and is involved in translation regulation, particularly under cellular stress conditions. RBM4 also plays a role in circadian rhythm regulation and has been implicated in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RBM4 overexpression alters splicing of oncogenic transcripts, promoting cell proliferation and migration. | PMID: 25849984 |
| Colorectal cancer | RBM4 downregulation correlates with poor prognosis; loss of RBM4 leads to aberrant splicing of tumor suppressor genes. | PMID: 27626308 |
| Alzheimer's disease | RBM4 regulates splicing of tau and APP transcripts; altered expression may contribute to neurodegeneration. | PMID: 22586272 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cells |
| MCF7 | 7.8 | Breast cancer cell line |
| HCT116 | 6.5 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Alters RNA-binding affinity; potential splicing defect |
| c.451C>T (p.Pro151Ser) | Missense | <0.01% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) abolish protein production, leading to haploinsufficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RBM4.
Dominant Negative (DN)
Missense mutations in RRM domains may produce proteins that interfere with wild-type RBM4 splicing activity.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • nucleic acid binding (GO:0003676) | • via spliceosome (GO:0000380) |
| • regulation of translation (GO:0006417) | • circadian rhythm (GO:0007623) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Regulation of mRNA Stability by Proteins That Bind AU-rich Elements (Reactome: R-HSA-450531)
Protein Summary
RBM4 is a 40 kDa RNA-binding protein with two RRM domains and a zinc finger motif. It shuttles between nucleus and cytoplasm, regulating alternative splicing in the nucleus and translation in the cytoplasm. Under stress conditions, RBM4 relocalizes to stress granules and modulates cap-independent translation. It also interacts with the circadian clock machinery by binding to the 3' UTR of clock genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM4 Knockout HEK293 Cell Line | EDJ-KQ5638 | Human | 5936 | Details Get a Quote |
| RBM45 Knockout HEK293 Cell Line | EDJ-KQ9225 | Human | 129831 | Details Get a Quote |
| RBM4B Knockout HEK293 Cell Line | EDJ-KQ9902 | Human | 83759 | Details Get a Quote |
| RBM47 Knockout HEK293 Cell Line | EDJ-KQ10768 | Human | 54502 | Details Get a Quote |
| RBM41 Knockout HEK293 Cell Line | EDJ-KQ15009 | Human | 55285 | Details Get a Quote |
| RBM43 Knockout HEK293 Cell Line | EDJ-KQ15010 | Human | 375287 | Details Get a Quote |
| RBM44 Knockout HEK293 Cell Line | EDJ-KQ15011 | Human | 375316 | Details Get a Quote |
| RBM46 Knockout HEK293 Cell Line | EDJ-KQ15012 | Human | 166863 | Details Get a Quote |
| RBM4 Knockout A-549 Cell Line | EDJ-KQ28969 | Human | 5936 | Details Get a Quote |
| RBM4 Knockout HCT 116 Cell Line | EDJ-KQ28970 | Human | 5936 | Details Get a Quote |
| RBM4 Knockout HeLa Cell Line | EDJ-KQ28971 | Human | 5936 | Details Get a Quote |
| RBM43 Knockout A-549 Cell Line | EDJ-KQ44280 | Human | 375287 | Details Get a Quote |
| RBM45 Knockout A-549 Cell Line | EDJ-KQ35800 | Human | 129831 | Details Get a Quote |
| RBM45 Knockout HCT 116 Cell Line | EDJ-KQ35801 | Human | 129831 | Details Get a Quote |
| RBM45 Knockout HeLa Cell Line | EDJ-KQ35802 | Human | 129831 | Details Get a Quote |
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