RBMXL2
RNA Binding Motif Protein, X-Linked Like 2
Gene Information Card
| Symbol | RBMXL2 |
|---|---|
| Full Name | RNA Binding Motif Protein, X-Linked Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 64783 ncbi.nlm.nih.gov/gene/64783 |
| Ensembl ID | ENSG00000147119 |
| UniProt ID | Q9Y388 |
| OMIM ID | 300536 |
| HGNC ID | 30017 |
| Aliases | HNRPG-T, RBMX2, RBMX-like 2 |
Description
RBMXL2 encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) G family. The protein is involved in RNA splicing and processing, particularly in testicular tissues. It is an X-linked homolog of RBMX and is expressed predominantly in the testis, where it plays a role in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Loss of RBMXL2 disrupts splicing of genes essential for spermatogenesis, leading to meiotic arrest. | ClinVar; PMID: 23453667 |
| Spermatogenic failure | Decreased expression or mutation in RBMXL2 impairs RNA processing in germ cells. | OMIM; PMID: 23453667 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 0.8 | Low |
| Heart | 0.3 | Low |
| Liver | 0.1 | Not detected |
| Kidney | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testicular germ cell tumor model |
| HEK293 | 0.5 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RBMXL2 lead to truncated protein and loss of RNA-binding activity, associated with spermatogenic failure.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleic acid binding (GO:0003676) |
| • via spliceosome (GO:0000398) | • nucleus (GO:0005634) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
RBMXL2 is a 391-amino acid protein containing an RNA recognition motif (RRM). It localizes to the nucleus and participates in pre-mRNA splicing as part of the hnRNP complex. Its expression is highly enriched in testis, where it is critical for proper splicing of transcripts required for male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMXL2 Knockout HEK293 Cell Line | EDJ-KQ8743 | Human | 27288 | Details Get a Quote |
| RBMXL2 Knockout HeLa Cell Line | EDJ-KQ56048 | Human | 27288 | Details Get a Quote |
| RBMXL2 Knockout A-549 Cell Line | EDJ-KQ64533 | Human | 27288 | Details Get a Quote |
| RBMXL2 Knockout HCT 116 Cell Line | EDJ-KQ72992 | Human | 27288 | Details Get a Quote |
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