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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRPS2
mitochondrial ribosomal protein S2
Chromosome 9 Β· 9q34.3
NCBI Gene: 51116Ensembl: ENSG00000122140.14HGNC: HGNC:14495UniProt: Q9Y399
104PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial small ribosomal subunitmitochondrial ribosome assemblymitochondrionstructural constituent of ribosomecombined oxidative phosphorylation deficiency 36kidney diseaseliver diseaseplacenta praevia
✦AI Summary

MRPS2 (mitochondrial ribosomal protein S2) is a structural protein essential for assembling the mitoribosomal small subunit and facilitating mitochondrial translation 1. As a nucleus-encoded component of the dual-origin mitochondrial ribosome, MRPS2 is required for the translation of the 13 mtDNA-encoded polypeptides that comprise oxidative phosphorylation (OXPHOS) complexes 2. Defects in MRPS2 impair small subunit assembly, reducing steady-state MRPS2 protein levels and preventing proper mitoribosome formation, which subsequently inhibits mitochondrial translation and causes combined OXPHOS deficiency affecting multiple respiratory complexes 21. MRPS2 mutations cause combined oxidative phosphorylation deficiency-36 (COPD36), presenting with a variable clinical spectrum including severe metabolic decompensation, acute-onset hypoglycemia, lactic acidosis, sensorineural hearing loss, and developmental abnormalities 132. In patient-derived fibroblasts, MRPS2 variants show decreased transcript and protein expression, reduced Complex I and IV enzyme activities, impaired mitochondrial respiration, and altered mitochondrial morphology 1. Zebrafish modeling validated pathogenicity through developmental abnormalities and reduced Complex IV activity 1. The constellation of lactic acidemia, hypoglycemia, and sensorineural hearing loss should prompt investigation for MRPS2-related mitochondrial disease 2.

Sources cited
1
MRPS2 encodes a vital structural protein essential for assembling mitoribosomal small subunit and mitochondrial translation; defects cause variable phenotypes of metabolic decompensation and hypoglycemia with decreased MRPS2 expression, reduced Complex I and IV activity, and altered mitochondrial morphology
PMID: 40360742
2
MRPS2 mutations cause combined OXPHOS deficiency; mutations prevent small mitoribosomal subunit assembly, inhibit mitochondrial translation, and result in multiple OXPHOS complex deficiencies with sensorineural hearing loss, hypoglycemia, and developmental delay
PMID: 29576219
3
MRPS2 gene mutations cause severe hypoglycemia, lactic acidosis, sensorineural hearing loss, and complex oxidative phosphorylation deficiency
PMID: 34991560
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
combined oxidative phosphorylation deficiency 36Open Targets
0.75Strong
kidney diseaseOpen Targets
0.05Suggestive
liver diseaseOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.02Suggestive
gangreneOpen Targets
0.02Suggestive
cardiac arrestOpen Targets
0.02Suggestive
ventricular fibrillationOpen Targets
0.02Suggestive
HypoglycemiaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
sensorineural hearing lossOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
lactic acidosisOpen Targets
0.01Suggestive
Friedreich ataxiaOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Sensorineural hearing impairmentOpen Targets
0.00Suggestive
mitochondrial diseaseOpen Targets
0.00Suggestive
Combined oxidative phosphorylation deficiency 36UniProt
Pathogenic Variants3
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys)Pathogenic
Combined oxidative phosphorylation deficiency 36
β˜…β˜…β˜†β˜†2020β†’ Residue 110
NM_016034.5(MRPS2):c.300-2A>GLikely pathogenic
Combined oxidative phosphorylation deficiency 36
β˜…β˜†β˜†β˜†2023
NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)Likely pathogenic
Combined oxidative phosphorylation deficiency 36
β˜…β˜†β˜†β˜†β†’ Residue 164
View on ClinVar β†—
Related Genes
MRPL49Protein interaction100%MRPL58Protein interaction100%MTIF2Protein interaction100%MRPL23Protein interaction100%MRPL12Protein interaction100%MRPS12Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
56%
Ovary
49%
Lung
38%
Brain
34%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
MRPS2MRPL49MRPL58MTIF2MRPL23MRPL12MRPS12
PROTEIN STRUCTURE
Preparing viewer…
PDB7QI4 Β· 2.21 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.49–1.17]
RankingsWhere MRPS2 stands among ~20K protein-coding genes
  • #4,596of 20,598
    Most Researched104 Β· top quartile
  • #3,986of 5,498
    Most Pathogenic Variants3
  • #12,193of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedMRPS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.
PMID: 40360742
Eur J Hum Genet Β· 2025
1.00
2
Comprehensive Analysis of Immune Characteristics of Fluorosis and Cuprotosis-Related Genes in Fluorosis Targeted Drugs.
PMID: 39836320
Biol Trace Elem Res Β· 2025
0.90
3
Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report.
PMID: 34991560
BMC Endocr Disord Β· 2022
0.80
4
Benzyl isothiocyanate alters the gene expression with cell cycle regulation and cell death in human brain glioblastoma GBM 8401 cells.
PMID: 26781422
Oncol Rep Β· 2016
0.70
5
Bioinformatics analysis of comorbid mechanisms between ischemic stroke and end stage renal disease.
PMID: 40379713
Sci Rep Β· 2025
0.60