RBMX: RNA Binding Motif Protein X-Linked
A key regulator of alternative splicing and genome stability with implications in intellectual disability and cancer
Gene Information Card
| Symbol | RBMX |
|---|---|
| Full Name | RNA Binding Motif Protein X-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 27316 ncbi.nlm.nih.gov/gene/27316 |
| Ensembl ID | ENSG00000147274 |
| UniProt ID | P38159 |
| OMIM ID | 300199 |
| HGNC ID | 9910 |
| Aliases | HNRNPG, RBMX1, HNRPG, RBMX2 |
Description
RBMX (RNA Binding Motif Protein X-Linked) encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, specifically hnRNP G. This protein is ubiquitously expressed and functions in pre-mRNA splicing, alternative splicing regulation, and RNA metabolism. It also plays roles in DNA repair, telomere maintenance, and cell cycle control. RBMX is located on the X chromosome and escapes X-inactivation. Mutations and dysregulation of RBMX are associated with X-linked intellectual disability and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in RBMX disrupt alternative splicing of genes critical for neuronal development and synaptic function. | ClinVar, OMIM |
| Breast cancer | RBMX overexpression or altered splicing activity contributes to tumor progression and metastasis by modulating oncogenic splicing programs. | COSMIC, PubMed |
| Hepatocellular carcinoma | RBMX downregulation is associated with poor prognosis and promotes cell proliferation via dysregulation of splicing. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 25.1 | Medium |
| Lung | 18.7 | Medium |
| Liver | 12.3 | Medium |
| Heart | 10.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| K562 | 28.1 | Leukemia cell line |
| HepG2 | 22.6 | Hepatocellular carcinoma cell line |
| MCF7 | 19.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.631C>T (p.Arg211*) | Nonsense | Rare | Loss of function; associated with X-linked intellectual disability |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Likely pathogenic; altered RNA binding |
| c.1234_1235insA | Frameshift | Rare | Loss of function; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with intellectual disability and tumor suppression loss.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may confer oncogenic properties via altered splicing.
Dominant Negative (DN)
Not reported for RBMX.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleotide binding |
| • mRNA splicing | • via spliceosome |
| • regulation of alternative mRNA splicing | • DNA repair |
| • telomere maintenance | • cell cycle |
Pathways
• mRNA Splicing - Major Pathway
• Alternative Splicing
• DNA Damage Response
• Telomere Maintenance
Protein Summary
The RBMX protein (hnRNP G) is a 391-amino acid RNA-binding protein containing an N-terminal RNA recognition motif (RRM) and a C-terminal glycine-rich domain. It shuttles between the nucleus and cytoplasm, binding to pre-mRNA and influencing spliceosome assembly. RBMX also interacts with DNA repair proteins and telomerase, contributing to genome stability. Its expression is ubiquitous with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMXL2 Knockout HEK293 Cell Line | EDJ-KQ8743 | Human | 27288 | Details Get a Quote |
| RBMXL3 Knockout HEK293 Cell Line | EDJ-KQ8860 | Human | 139804 | Details Get a Quote |
| RBMX2 Knockout HEK293 Cell Line | EDJ-KQ51334 | Human | 51634 | Details Get a Quote |
| RBMXL1 Knockout HEK293 Cell Line | EDJ-KQ52362 | Human | 494115 | Details Get a Quote |
| RBMXL2 Knockout HeLa Cell Line | EDJ-KQ56048 | Human | 27288 | Details Get a Quote |
| RBMX2 Knockout HeLa Cell Line | EDJ-KQ56337 | Human | 51634 | Details Get a Quote |
| RBMXL3 Knockout HeLa Cell Line | EDJ-KQ58425 | Human | 139804 | Details Get a Quote |
| RBMXL1 Knockout HeLa Cell Line | EDJ-KQ60477 | Human | 494115 | Details Get a Quote |
| RBMXL2 Knockout A-549 Cell Line | EDJ-KQ64533 | Human | 27288 | Details Get a Quote |
| RBMX2 Knockout A-549 Cell Line | EDJ-KQ64825 | Human | 51634 | Details Get a Quote |
| RBMXL3 Knockout A-549 Cell Line | EDJ-KQ66914 | Human | 139804 | Details Get a Quote |
| RBMXL1 Knockout A-549 Cell Line | EDJ-KQ68947 | Human | 494115 | Details Get a Quote |
| RBMXL2 Knockout HCT 116 Cell Line | EDJ-KQ72992 | Human | 27288 | Details Get a Quote |
| RBMX2 Knockout HCT 116 Cell Line | EDJ-KQ73270 | Human | 51634 | Details Get a Quote |
| RBMXL3 Knockout HCT 116 Cell Line | EDJ-KQ75317 | Human | 139804 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
