MRPS2: Mitochondrial Ribosomal Protein S2
A nuclear-encoded component of the mitochondrial small ribosomal subunit essential for mitochondrial translation and oxidative phosphorylation.
Gene Information Card
| Symbol | MRPS2 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 51116 ncbi.nlm.nih.gov/gene/51116 |
| Ensembl ID | ENSG00000122140 |
| UniProt ID | Q9Y399 |
| OMIM ID | 611971 |
| HGNC ID | 14495 |
| Aliases | CGI-30, MRP-S2, S2mt |
Description
MRPS2 encodes a 28S mitochondrial ribosomal protein that is a component of the small ribosomal subunit (mt-SSU). This protein is nuclear-encoded and imported into mitochondria, where it participates in mitochondrial translation. Defects in MRPS2 are associated with combined oxidative phosphorylation deficiency and mitochondrial disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 36 | Loss of MRPS2 function impairs mitochondrial translation, reducing synthesis of OXPHOS subunits encoded by mtDNA. | ClinVar, OMIM #619025 |
| Mitochondrial complex I deficiency | Defective mitochondrial translation leads to reduced assembly and activity of respiratory chain complexes. | OMIM #252010 |
| Leigh syndrome | Biallelic MRPS2 variants cause early-onset neurodegenerative disorder with characteristic brainstem and basal ganglia lesions. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Heart | 10.8 | Medium |
| Skeletal muscle | 9.5 | Medium |
| Brain | 8.2 | Medium |
| Kidney | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical carcinoma cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| K562 | 11.0 | Leukemia cell line |
| HepG2 | 10.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Loss of protein stability and reduced mitochondrial translation |
| c.434G>A (p.Arg145His) | Missense | Rare | Impaired assembly of small ribosomal subunit |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most MRPS2 pathogenic variants are loss-of-function, leading to reduced mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial small ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
MRPS2 is a 296-amino-acid protein that forms part of the mitochondrial small ribosomal subunit (28S). It is essential for decoding mt-mRNA and initiating mitochondrial protein synthesis. The protein contains an N-terminal mitochondrial targeting sequence and is imported into the mitochondrial matrix. Structural studies show it interacts with 12S rRNA and other ribosomal proteins to stabilize the small subunit.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPS21 Knockout HEK293 Cell Line | EDJ-KQ51365 | Human | 54460 | Details Get a Quote |
| URGCP-MRPS24 Knockout HEK293 Cell Line | EDJ-KQ52511 | Human | 100534592 | Details Get a Quote |
| MRPS21 Knockout HeLa Cell Line | EDJ-KQ56419 | Human | 54460 | Details Get a Quote |
| URGCP-MRPS24 Knockout HeLa Cell Line | EDJ-KQ60976 | Human | 100534592 | Details Get a Quote |
| MRPS21 Knockout A-549 Cell Line | EDJ-KQ64912 | Human | 54460 | Details Get a Quote |
| URGCP-MRPS24 Knockout A-549 Cell Line | EDJ-KQ69451 | Human | 100534592 | Details Get a Quote |
| MRPS21 Knockout HCT 116 Cell Line | EDJ-KQ73356 | Human | 54460 | Details Get a Quote |
| URGCP-MRPS24 Knockout HCT 116 Cell Line | EDJ-KQ77802 | Human | 100534592 | Details Get a Quote |
