RBM10: RNA Binding Motif Protein 10
A key regulator of alternative splicing implicated in cancer and developmental disorders
Gene Information Card
| Symbol | RBM10 |
|---|---|
| Full Name | RNA Binding Motif Protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 8241 ncbi.nlm.nih.gov/gene/8241 |
| Ensembl ID | ENSG00000113492 |
| UniProt ID | P98175 |
| OMIM ID | 300080 |
| HGNC ID | 9896 |
| Aliases | DXS8237E, GPATC2, GPATCH2, S1-1, ZRANB5 |
Description
RBM10 (RNA Binding Motif Protein 10) encodes a nuclear protein that belongs to the RNA-binding motif (RBM) family. It functions as a regulator of alternative splicing, influencing the expression of multiple target genes. RBM10 is involved in pre-mRNA processing, cell proliferation, and apoptosis. Loss-of-function mutations in RBM10 are associated with TARP syndrome (a severe X-linked disorder) and are frequently found in lung adenocarcinoma and other cancers, suggesting a tumor suppressor role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| TARP syndrome | Loss-of-function mutations in RBM10 disrupt normal splicing of critical developmental genes, leading to the syndrome's features (Talipes equinovarus, Atrial septal defect, Robin sequence, Persistent left superior vena cava). | OMIM #311900; multiple case reports |
| Lung adenocarcinoma | Somatic truncating and missense mutations in RBM10 lead to loss of tumor suppressor function, promoting uncontrolled cell proliferation. | COSMIC; TCGA data; PMID: 23583978 |
| Breast cancer | Reduced RBM10 expression correlates with poor prognosis; mutations may alter splicing of oncogenic transcripts. | PMID: 28991257 |
| Pancreatic cancer | Recurrent somatic mutations in RBM10 identified in pancreatic ductal adenocarcinoma, suggesting a role in tumorigenesis. | COSMIC; PMID: 27895133 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Thyroid | 18.2 | Medium |
| Lung | 15.1 | Medium |
| Brain | 12.8 | Medium |
| Heart | 10.3 | Low |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 22.4 | High expression; commonly used for functional studies |
| HeLa (cervical carcinoma) | 18.9 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 14.2 | Moderate expression |
| HEK293 (embryonic kidney) | 12.1 | Moderate expression |
| K562 (leukemia) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1180C>T (p.Arg394*) | Nonsense | ~2% in lung adenocarcinoma | Loss of function; premature truncation |
| c.1456G>A (p.Gly486Arg) | Missense | ~1% in lung adenocarcinoma | Loss of function; impaired RNA binding |
| c.2119C>T (p.Arg707Trp) | Missense | ~0.5% in breast cancer | Loss of function; altered splicing regulation |
| c.1A>G (p.Met1?) | Start loss | Rare in TARP syndrome | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
The majority of RBM10 mutations in cancer and TARP syndrome are loss-of-function (nonsense, frameshift, splice site, or missense that disrupt RNA binding or nuclear localization). These mutations impair alternative splicing regulation and contribute to tumorigenesis.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for RBM10.
Dominant Negative (DN)
Some missense mutations (e.g., in the RRM domains) may act in a dominant-negative manner by competing with wild-type RBM10 for RNA targets, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • regulation of alternative mRNA splicing (GO:0000381) |
| • nucleus (GO:0005634) | • cadherin binding (GO:0045296) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
Pathways
• Alternative splicing (Reactome: R-HSA-72163)
• mRNA Splicing – Major Pathway (Reactome: R-HSA-72172)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
RBM10 is a 930-amino acid nuclear protein containing two RNA recognition motifs (RRMs), a G-patch domain, and a zinc finger domain. It binds to pre-mRNA and regulates alternative splicing of numerous target genes, including those involved in cell cycle control and apoptosis. RBM10 interacts with spliceosomal components and can either promote or repress exon inclusion. Loss of RBM10 function leads to aberrant splicing patterns that drive oncogenic transformation. The protein is ubiquitously expressed, with highest levels in testis and lung.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM10 Knockout HEK293 Cell Line | EDJ-KQ6186 | Human | 8241 | Details Get a Quote |
| RBM10 Knockout A-549 Cell Line | EDJ-KQ30019 | Human | 8241 | Details Get a Quote |
| RBM10 Knockout HCT 116 Cell Line | EDJ-KQ30020 | Human | 8241 | Details Get a Quote |
| RBM10 Knockout HeLa Cell Line | EDJ-KQ30021 | Human | 8241 | Details Get a Quote |
