RBM15B
RNA Binding Motif Protein 15B
Gene Information Card
| Symbol | RBM15B |
|---|---|
| Full Name | RNA Binding Motif Protein 15B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 29890 ncbi.nlm.nih.gov/gene/29890 |
| Ensembl ID | ENSG00000125845 |
| UniProt ID | Q8NDT2 |
| OMIM ID | 616447 |
| HGNC ID | 29023 |
| Aliases | OTT3, MGC14289, RBM15B |
Description
RBM15B (RNA Binding Motif Protein 15B) is a protein-coding gene located on chromosome 3p21.31. It encodes a member of the RNA-binding motif (RBM) family, involved in RNA processing, splicing, and export. RBM15B interacts with the NXF1 pathway to facilitate mRNA nuclear export and is implicated in hematopoiesis and leukemogenesis. Mutations and altered expression of RBM15B have been associated with acute myeloid leukemia (AML) and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | RBM15B fusion with MKL1 (RBM15B-MKL1) disrupts RNA export and splicing, promoting leukemogenesis | COSMIC, NCBI, ClinVar |
| Hepatocellular carcinoma | Overexpression of RBM15B correlates with poor prognosis and altered mRNA processing | NCBI, COSMIC |
| Breast cancer | RBM15B upregulation linked to tumor progression via RNA splicing dysregulation | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lymph node | 8.9 | Medium |
| Testis | 6.3 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.8 | High expression |
| HEK293 (embryonic kidney) | 9.4 | Moderate expression |
| HepG2 (liver cancer) | 11.2 | Moderate expression |
| MCF7 (breast cancer) | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| RBM15B-MKL1 fusion | Fusion | Rare in AML | Oncogenic; disrupts RNA export and splicing |
| c.1234C>T (p.Arg412*) | Nonsense | <1% in COSMIC | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.5% in COSMIC | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional protein, impairing RNA export and splicing.
Gain of Function (GOF)
Not well characterized; RBM15B-MKL1 fusion may confer gain-of-function through aberrant transcriptional activation.
Dominant Negative (DN)
Not reported for RBM15B.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA export from nucleus (GO:0006406) |
| • via spliceosome (GO:0000398) | • nucleus (GO:0005634) |
| • nucleoplasm (GO:0005654) |
Pathways
• mRNA Export (NXF1-dependent)
• Spliceosome
• RNA transport
Protein Summary
RBM15B is a 977-amino acid RNA-binding protein containing an N-terminal RNA recognition motif (RRM) and a C-terminal proline-rich region. It localizes to the nucleus and nucleoplasm, where it participates in mRNA splicing and nuclear export via interaction with NXF1. The protein is essential for normal hematopoiesis; its fusion with MKL1 (due to t(3;5)(p21;q35) translocation) drives acute megakaryoblastic leukemia. RBM15B also regulates alternative splicing of genes involved in cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM15B Knockout HEK293 Cell Line | EDJ-KQ9067 | Human | 29890 | Details Get a Quote |
| RBM15B Knockout HCT 116 Cell Line | EDJ-KQ34286 | Human | 29890 | Details Get a Quote |
| RBM15B Knockout A-549 Cell Line | EDJ-KQ35540 | Human | 29890 | Details Get a Quote |
| RBM15B Knockout HeLa Cell Line | EDJ-KQ35542 | Human | 29890 | Details Get a Quote |
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