RBMXL3
RNA Binding Motif Protein, X-Linked Like 3
Gene Information Card
| Symbol | RBMXL3 |
|---|---|
| Full Name | RNA Binding Motif Protein, X-Linked Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 100129917 ncbi.nlm.nih.gov/gene/100129917 |
| Ensembl ID | ENSG00000203877 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | - |
| HGNC ID | 37264 |
| Aliases | RBMX-like 3, RBMX family member |
Description
RBMXL3 is a protein-coding gene located on the X chromosome. It belongs to the RNA-binding motif protein family and is involved in RNA processing and splicing regulation. The gene is expressed in multiple tissues and has been implicated in cancer through COSMIC mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Somatic mutations in RBMXL3 may alter RNA splicing, contributing to tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G | Missense | 0.02% (COSMIC) | Unknown functional effect |
| c.456C>T | Nonsense | 0.01% (COSMIC) | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of RNA-binding function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) |
Pathways
• mRNA Splicing - Major Pathway
Protein Summary
RBMXL3 encodes a protein containing an RNA recognition motif (RRM). It is predicted to localize to the nucleus and participate in pre-mRNA splicing. The protein sequence is highly similar to other RBMX family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMXL3 Knockout HEK293 Cell Line | EDJ-KQ8860 | Human | 139804 | Details Get a Quote |
| RBMXL3 Knockout HeLa Cell Line | EDJ-KQ58425 | Human | 139804 | Details Get a Quote |
| RBMXL3 Knockout A-549 Cell Line | EDJ-KQ66914 | Human | 139804 | Details Get a Quote |
| RBMXL3 Knockout HCT 116 Cell Line | EDJ-KQ75317 | Human | 139804 | Details Get a Quote |
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