RBPMS2
RNA Binding Protein, mRNA Processing Factor 2
Gene Information Card
| Symbol | RBPMS2 |
|---|---|
| Full Name | RNA Binding Protein, mRNA Processing Factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 348093 ncbi.nlm.nih.gov/gene/348093 |
| Ensembl ID | ENSG00000166897 |
| UniProt ID | Q6ZRY0 |
| OMIM ID | 617594 |
| HGNC ID | 19099 |
| Aliases | HERMES2, RBP-MS2 |
Description
RBPMS2 (RNA Binding Protein, mRNA Processing Factor 2) is a protein-coding gene that encodes a member of the RNA-binding protein family. The protein contains an RNA recognition motif (RRM) and is involved in post-transcriptional regulation of gene expression, including mRNA splicing, stability, and translation. RBPMS2 is expressed in various tissues and has been implicated in smooth muscle cell differentiation and cardiac development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular abnormalities | Altered RNA processing affecting smooth muscle and cardiac gene expression | Limited evidence from animal models and expression studies |
| Cancer (potential) | Dysregulation of mRNA targets involved in cell proliferation | Inferred from COSMIC mutation data and expression in tumor cell lines |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Smooth muscle | 15.3 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.7 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.4 | Lung cancer cell line |
| K562 | 5.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301C>T (p.Arg101Trp) | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | 0.005% (ClinVar) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in RNA binding affinity
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA processing |
| • regulation of translation | • nucleic acid binding |
| • smooth muscle cell differentiation |
Pathways
• mRNA surveillance pathway
• RNA transport
Protein Summary
The RBPMS2 protein is a 227-amino acid RNA-binding protein containing a single RNA recognition motif (RRM) at the N-terminus. It binds to specific mRNA targets and regulates their splicing, stability, and translation. The protein is predominantly nuclear but can shuttle to the cytoplasm. It plays a role in smooth muscle cell differentiation and cardiac development. Structural studies show the RRM domain adopts a canonical αβββαβ fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBPMS2 Knockout HEK293 Cell Line | EDJ-KQ15017 | Human | 348093 | Details Get a Quote |
| RBPMS2 Knockout A-549 Cell Line | EDJ-KQ44287 | Human | 348093 | Details Get a Quote |
| RBPMS2 Knockout HCT 116 Cell Line | EDJ-KQ45547 | Human | 348093 | Details Get a Quote |
| RBPMS2 Knockout HeLa Cell Line | EDJ-KQ45548 | Human | 348093 | Details Get a Quote |
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