RBMX2
RNA Binding Motif Protein, X-Linked 2
Gene Information Card
| Symbol | RBMX2 |
|---|---|
| Full Name | RNA binding motif protein, X-linked 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 51634 ncbi.nlm.nih.gov/gene/51634 |
| Ensembl ID | ENSG00000147140 |
| UniProt ID | Q9Y388 |
| OMIM ID | 300742 |
| HGNC ID | 30259 |
| Aliases | CGI-79, GPATCH2, HNRNPGX2, MRXS15, RBMX2 |
Description
RBMX2 encodes an RNA-binding protein that belongs to the heterogeneous nuclear ribonucleoprotein (hnRNP) family. It is involved in pre-mRNA splicing, particularly in the regulation of alternative splicing events. The protein contains an RNA recognition motif (RRM) and a glycine-rich domain. RBMX2 is ubiquitously expressed and plays a role in neuronal development and function. Mutations in this gene are associated with X-linked intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability (MRXS15) | Loss-of-function mutations in RBMX2 disrupt RNA splicing, leading to impaired neuronal development. | ClinVar, OMIM |
| Cancer (various) | Altered expression of RBMX2 may contribute to tumorigenesis through dysregulation of splicing. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.7 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| K562 | 7.4 | Low expression |
| SH-SY5Y | 13.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleic acid binding |
| • mRNA splicing | • via spliceosome |
| • regulation of alternative mRNA splicing | • nucleus |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
RBMX2 is a 344-amino acid protein with a molecular weight of approximately 38 kDa. It contains an N-terminal RNA recognition motif (RRM) and a C-terminal glycine-rich domain. The protein localizes to the nucleus and is involved in spliceosome assembly and alternative splicing regulation. It interacts with other splicing factors and is essential for normal neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMX2 Knockout HEK293 Cell Line | EDJ-KQ51334 | Human | 51634 | Details Get a Quote |
| RBMX2 Knockout HeLa Cell Line | EDJ-KQ56337 | Human | 51634 | Details Get a Quote |
| RBMX2 Knockout A-549 Cell Line | EDJ-KQ64825 | Human | 51634 | Details Get a Quote |
| RBMX2 Knockout HCT 116 Cell Line | EDJ-KQ73270 | Human | 51634 | Details Get a Quote |
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