RBM4B
RNA Binding Motif Protein 4B
Gene Information Card
| Symbol | RBM4B |
|---|---|
| Full Name | RNA Binding Motif Protein 4B |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 83759 ncbi.nlm.nih.gov/gene/83759 |
| Ensembl ID | ENSG00000173918 |
| UniProt ID | Q9BQ04 |
| OMIM ID | 617573 |
| HGNC ID | HGNC:30227 |
| Aliases | RBM4B, RNA-binding motif protein 4B, RBM4B |
Description
RBM4B (RNA Binding Motif Protein 4B) is a protein-coding gene located on chromosome 11q13.1. It encodes a member of the RNA-binding motif (RBM) family, which is involved in alternative splicing regulation and RNA processing. The protein contains an RNA recognition motif (RRM) and is implicated in post-transcriptional gene regulation. RBM4B is broadly expressed in various tissues and has been associated with cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered splicing regulation | COSMIC: somatic mutations in multiple cancer types |
| Breast cancer | Dysregulated RNA splicing | COSMIC: mutations reported |
| Lung cancer | Potential splicing factor role | COSMIC: mutations reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | missense | 0.01% | Unknown functional impact |
| c.456G>A | synonymous | 0.005% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential splicing defects
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleic acid binding |
| • alternative mRNA splicing | • via spliceosome |
| • regulation of RNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
RBM4B is a 364-amino acid protein containing a single RNA recognition motif (RRM) at the N-terminus. It localizes to the nucleus and is involved in alternative splicing regulation. The protein interacts with spliceosomal components and modulates exon inclusion or skipping. RBM4B is broadly expressed and may play roles in tissue-specific splicing and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM4B Knockout HEK293 Cell Line | EDJ-KQ9902 | Human | 83759 | Details Get a Quote |
| RBM4B Knockout A-549 Cell Line | EDJ-KQ36789 | Human | 83759 | Details Get a Quote |
| RBM4B Knockout HCT 116 Cell Line | EDJ-KQ36790 | Human | 83759 | Details Get a Quote |
| RBM4B Knockout HeLa Cell Line | EDJ-KQ36791 | Human | 83759 | Details Get a Quote |
