RBM6: RNA Binding Motif Protein 6
A gene encoding an RNA-binding protein involved in RNA splicing and tumor suppression.
Gene Information Card
| Symbol | RBM6 |
|---|---|
| Full Name | RNA Binding Motif Protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 10180 ncbi.nlm.nih.gov/gene/10180 |
| Ensembl ID | ENSG00000104549 |
| UniProt ID | P78332 |
| OMIM ID | 605730 |
| HGNC ID | 9904 |
| Aliases | DEF-3, NY-LU-12, g16, HLC-11 |
Description
RBM6 (RNA Binding Motif Protein 6) encodes a member of the RNA-binding protein family containing an RNA recognition motif (RRM). The protein is involved in pre-mRNA splicing, RNA processing, and may function as a tumor suppressor. It is located on chromosome 3p21, a region frequently deleted in various cancers. RBM6 interacts with other splicing factors and regulates alternative splicing of target genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Loss of heterozygosity at 3p21; reduced RBM6 expression contributes to tumorigenesis | PMID: 10652316 |
| Breast Cancer | RBM6 downregulation associated with poor prognosis; potential tumor suppressor | PMID: 21573172 |
| Acute Myeloid Leukemia | RBM6 fusion with RBM5 (RBM6-RBM5) via chromosomal rearrangement | PMID: 17374725 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Medium |
| Breast | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 9.8 | High expression |
| MCF7 (Breast) | 5.2 | Moderate expression |
| HEK293 (Embryonic kidney) | 7.1 | Moderate expression |
| K562 (Leukemia) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.789_790insA (p.Glu264fs) | Frameshift | <0.1% | Frameshift; loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | 0.2% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, consistent with tumor suppressor role.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; no dominant-negative variants known.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleic acid binding (GO:0003676) |
| • mRNA splicing | • via spliceosome (GO:0000398) |
| • regulation of alternative mRNA splicing | • via spliceosome (GO:0000381) |
| • nucleus (GO:0005634) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
RBM6 is a 1123-amino acid RNA-binding protein with an N-terminal RRM domain. It localizes to the nucleus and participates in pre-mRNA splicing as part of the spliceosome. The protein interacts with other splicing regulators such as RBM5 and SF3B1. RBM6 is considered a candidate tumor suppressor due to its frequent deletion or downregulation in lung and breast cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM6 Knockout HEK293 Cell Line | EDJ-KQ50937 | Human | 10180 | Details Get a Quote |
| RBM6 Knockout HeLa Cell Line | EDJ-KQ55338 | Human | 10180 | Details Get a Quote |
| RBM6 Knockout A-549 Cell Line | EDC90408 | Human | 10180 | Details Get a Quote |
| RBM6 Knockout HCT 116 Cell Line | EDJ-KQ72280 | Human | 10180 | Details Get a Quote |
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