RBM26: RNA Binding Motif Protein 26
A gene encoding an RNA-binding protein involved in mRNA processing and implicated in cancer susceptibility and developmental disorders.
Gene Information Card
| Symbol | RBM26 |
|---|---|
| Full Name | RNA binding motif protein 26 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q31.1 |
| NCBI Gene ID | 9582 ncbi.nlm.nih.gov/gene/9582 |
| Ensembl ID | ENSG00000139746 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 617846 |
| HGNC ID | 20327 |
| Aliases | C13orf10, FLJ10726, ZCCHC12, ARGFX |
Description
RBM26 encodes an RNA-binding protein containing an RNA recognition motif (RRM) and a zinc finger domain. It is a component of the spliceosome complex and plays a role in pre-mRNA splicing, particularly in the regulation of alternative splicing. The protein is involved in DNA damage response and has been implicated in tumor suppression. Loss-of-function mutations in RBM26 are associated with increased susceptibility to breast and ovarian cancers, as well as developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of function leads to impaired DNA repair and genomic instability, promoting tumorigenesis. | ClinVar, COSMIC |
| Ovarian cancer | Similar mechanism as breast cancer; RBM26 mutations found in familial cases. | ClinVar, COSMIC |
| Neurodevelopmental disorder | Homozygous missense mutations disrupt RNA splicing, leading to intellectual disability and developmental delay. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Breast | 8.7 | Low |
| Ovary | 6.3 | Low |
| Brain | 5.1 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.4 | RNA-seq data from CCLE |
| OVCAR3 (ovarian cancer) | 9.1 | RNA-seq data from CCLE |
| HEK293 (embryonic kidney) | 7.8 | RNA-seq data from GTEx |
| HepG2 (liver cancer) | 6.5 | RNA-seq data from CCLE |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.890G>A (p.Arg297Gln) | Missense | 0.02% | Impaired RNA binding; reduced splicing activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that lead to premature termination codons or protein truncation, resulting in loss of RNA-binding and splicing functions.
Gain of Function (GOF)
No gain-of-function mutations reported in RBM26.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg297Gln) may act in a dominant-negative manner by interfering with spliceosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • via spliceosome (GO:0000398) |
| • DNA damage response (GO:0006974) | • nucleus (GO:0005634) |
| • zinc ion binding (GO:0008270) |
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA surveillance pathway (KEGG: hsa03015)
Protein Summary
RBM26 is a 661-amino acid protein with an N-terminal RNA recognition motif (RRM) and a C-terminal C2H2-type zinc finger domain. It localizes to the nucleus and associates with the spliceosome complex, where it facilitates the recognition of specific RNA sequences during alternative splicing. The protein also interacts with DNA repair factors, suggesting a dual role in RNA processing and genome maintenance. Structural studies indicate that the RRM domain is essential for RNA binding, while the zinc finger mediates protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM26 Knockout HEK293 Cell Line | EDJ-KQ15007 | Human | 64062 | Details Get a Quote |
| RBM26 Knockout HCT 116 Cell Line | EDJ-KQ44273 | Human | 64062 | Details Get a Quote |
| RBM26 Knockout A-549 Cell Line | EDJ-KQ45534 | Human | 64062 | Details Get a Quote |
| RBM26 Knockout HeLa Cell Line | EDJ-KQ45536 | Human | 64062 | Details Get a Quote |
