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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MRPS7
mitochondrial ribosomal protein S7
Chromosome 17 · 17q25.1
NCBI Gene: 51081Ensembl: ENSG00000125445.12HGNC: HGNC:14499UniProt: Q9Y2R9
124PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingmitochondrionmitochondrial small ribosomal subunitribosomeneurodegenerative diseasecombined oxidative phosphorylation deficiency 34sensorineural hearing lossSensorineural hearing impairment
✦AI Summary

MRPS7 (mitochondrial ribosomal protein S7) is a critical component of the small mitochondrial ribosomal subunit that binds to 12S ribosomal RNA and is essential for mitochondrial protein synthesis 1. The protein functions as a structural constituent of the mitoribosome, facilitating assembly of the small ribosomal subunit and enabling translation of mitochondrial-encoded genes necessary for oxidative phosphorylation complexes 1. Mechanistically, MRPS7 stabilizes 12S rRNA transcript levels and supports proper mitochondrial translation, as demonstrated by pulse labeling studies showing impaired mitochondrial protein synthesis when MRPS7 function is compromised 1. Additionally, MRPS7 has been implicated in cancer biology, where it stabilizes β-catenin by inhibiting its ubiquitination, promoting cancer stemness and epithelial-mesenchymal transition that contributes to cisplatin resistance 2. Disease associations include Combined oxidative phosphorylation deficiency 34, with mutations causing congenital sensorineural deafness, progressive hepatic and renal failure, and lactic acidemia due to combined respiratory chain deficiencies 1. MRPS7 variants are also associated with Perrault syndrome, characterized by premature ovarian insufficiency and sensorineural hearing loss 3. Clinically, MRPS7 expression is altered in various conditions including schizophrenia, ischemic stroke, and premature ovarian insufficiency, suggesting potential biomarker applications 456.

Sources cited
1
MRPS7 is a 12S rRNA-binding component of the small mitochondrial ribosomal subunit essential for assembly and mitochondrial protein synthesis
PMID: 25556185
2
MRPS7 stabilizes β-catenin by inhibiting ubiquitination, promoting cancer stemness and cisplatin resistance
PMID: 41522354
3
MRPS7 variants cause Perrault syndrome with premature ovarian insufficiency and sensorineural hearing loss
PMID: 36421788
4
MRPS7 is downregulated in brain and blood samples of schizophrenia patients
PMID: 37158323
5
MRPS7 is part of ribosome biogenesis gene signature associated with ischemic stroke risk
PMID: 39290696
6
MRPS7 is a hub biomarker in premature ovarian insufficiency with mitochondrial and immune correlations
PMID: 39379953
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.53Moderate
combined oxidative phosphorylation deficiency 34Open Targets
0.51Moderate
sensorineural hearing lossOpen Targets
0.33Weak
Premature ovarian insufficiencyOpen Targets
0.33Weak
Sensorineural hearing impairmentOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
systemic sclerodermaOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
infectionOpen Targets
0.06Suggestive
peripheral arterial diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
Combined oxidative phosphorylation deficiency 34UniProt
Pathogenic Variants1
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)Likely pathogenic
Premature ovarian insufficiency;Sensorineural hearing loss disorder
★☆☆☆2022→ Residue 125
View on ClinVar ↗
Related Genes
MRPL10Shared pathway100%MRPL11Protein interaction100%MRPL24Protein interaction100%MRPL55Protein interaction100%MRPL49Protein interaction100%MRPL58Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
61%
Lung
36%
Brain
33%
Ovary
28%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
MRPS7MRPL10MRPL11MRPL24MRPL55MRPL49MRPL58
PROTEIN STRUCTURE
Preparing viewer…
PDB7QI4 · 2.21 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.48 [0.31–0.76]
RankingsWhere MRPS7 stands among ~20K protein-coding genes
  • #3,803of 20,598
    Most Researched124 · top quartile
  • #4,824of 5,498
    Most Pathogenic Variants1
  • #6,052of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedMRPS7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative bioinformatics analysis for identifying the mitochondrial-related gene signature associated with immune infiltration in premature ovarian insufficiency.
PMID: 39379953
BMC Med · 2024
1.00
2
Co-targeting MRPS7-23 synergistically enhances cisplatin efficacy to suppress nasopharyngeal carcinoma growth and metastasis.
PMID: 41522354
Int J Biol Sci · 2026
0.90
3
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
PMID: 25556185
Hum Mol Genet · 2015
0.80
4
Identification of ribosome biogenesis genes and subgroups in ischaemic stroke.
PMID: 39290696
Front Immunol · 2024
0.70
5
Multiple genes encoding mitochondrial ribosomes are downregulated in brain and blood samples of individuals with schizophrenia.
PMID: 37158323
World J Biol Psychiatry · 2023
0.60