RBMS2: RNA Binding Motif Single Stranded Interacting Protein 2
A gene encoding an RNA-binding protein involved in post-transcriptional regulation and implicated in cancer and developmental processes.
Gene Information Card
| Symbol | RBMS2 |
|---|---|
| Full Name | RNA Binding Motif Single Stranded Interacting Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 5939 ncbi.nlm.nih.gov/gene/5939 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q15434 |
| OMIM ID | 603519 |
| HGNC ID | 9905 |
| Aliases | SCR3, RBMS2, RNA-binding motif single-stranded-interacting protein 2 |
Description
RBMS2 (RNA Binding Motif Single Stranded Interacting Protein 2) is a protein-coding gene located on chromosome 12q13.3. It encodes a member of the RNA-binding motif (RRM) family of proteins that bind single-stranded RNA/DNA and regulate post-transcriptional processes such as splicing, stability, and translation. RBMS2 is involved in cell cycle control, apoptosis, and differentiation, and its dysregulation has been linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RBMS2 downregulation may promote tumorigenesis through altered RNA processing | PMID: 25605274 |
| Lung cancer | Loss of RBMS2 expression correlates with poor prognosis and metastasis | PMID: 27323851 |
| Colorectal cancer | RBMS2 mutations and reduced expression linked to tumor progression | PMID: 29187737 |
| Ovarian cancer | RBMS2 copy number alterations and expression changes observed | PMID: 30266948 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.2 | Cervical cancer cell line |
| A549 | 5.8 | Lung cancer cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| HCT116 | 4.5 | Colorectal cancer cell line |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T | Missense | 0.2% | p.Arg339Trp; potential loss of RNA binding |
| c.1246G>A | Missense | 0.1% | p.Gly416Arg; uncertain significance |
| c.789_790insA | Frameshift | <0.1% | p.Glu264Argfs*12; predicted loss of function |
| c.1450C>T | Nonsense | <0.1% | p.Gln484*; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function through nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RBMS2.
Dominant Negative (DN)
No evidence for dominant-negative effects; most mutations are heterozygous with unclear impact.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA surveillance pathway (KEGG: hsa03015)
• RNA transport (KEGG: hsa03013)
• Spliceosome (KEGG: hsa03040)
Protein Summary
The RBMS2 protein (UniProt Q15434) contains two RNA recognition motifs (RRMs) and a C-terminal domain rich in glycine and arginine. It binds single-stranded RNA and DNA, participating in pre-mRNA splicing, mRNA stability, and translational control. RBMS2 is predominantly nuclear and is expressed in multiple tissues, with highest levels in testis. Its dysregulation contributes to cancer progression by affecting cell cycle and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMS2 Knockout HEK293 Cell Line | EDJ-KQ5640 | Human | 5939 | Details Get a Quote |
| RBMS2 Knockout A-549 Cell Line | EDJ-KQ28975 | Human | 5939 | Details Get a Quote |
| RBMS2 Knockout HCT 116 Cell Line | EDJ-KQ28976 | Human | 5939 | Details Get a Quote |
| RBMS2 Knockout HeLa Cell Line | EDJ-KQ28977 | Human | 5939 | Details Get a Quote |
