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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MRPL47
mitochondrial ribosomal protein L47
Chromosome 3 · 3q26.33
NCBI Gene: 57129Ensembl: ENSG00000136522.15HGNC: HGNC:16652UniProt: Q9HD33
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial large ribosomal subunitmitochondrial translationstructural constituent of ribosomeDelayed speech and language developmentatrial heart septal defectRecurrent otitis mediaAplasia/Hypoplasia of the nails
✦AI Summary

MRPL47 is a structural component of the mitochondrial large ribosomal subunit essential for oxidative phosphorylation protein synthesis 1. As a mitoribosomal protein, MRPL47 facilitates selective translation of electron transport chain complex proteins required for ATP generation 1. MRPL47 expression is significantly amplified and upregulated in non-small cell lung cancer (NSCLC), where it functions as a strong independent prognostic marker for poor survival 1. Mechanistically, MRPL47 depletion selectively impairs mitochondrial protein translation, leading to defective Complexes I and III assembly, reduced ATP synthesis, and elevated reactive oxygen species accumulation 1. This triggers ROS-mediated p38 phosphorylation and p21 upregulation, causing Rb hypophosphorylation and E2F pathway inhibition, ultimately inducing G1 cell cycle arrest and senescence 1. Beyond cancer, MRPL47 has been identified as a potential diagnostic biomarker for hepatocellular carcinoma 2, lung squamous cell carcinoma 3, sarcopenia 4, and vitiligo 5. Additionally, MRPL47 variants are associated with vincristine-induced peripheral neuropathy risk in childhood leukemia patients 6, and the locus has shown genetic linkage to Leber hereditary optic neuropathy expression 7.

Sources cited
1
MRPL47 is a mitoribosomal protein amplified/overexpressed in NSCLC; selective translation of ETC complex proteins; depletion impairs Complexes I/III assembly, ATP synthesis, increases ROS; activates ROS-p38-p21-Rb-E2F signaling axis
PMID: 41407038
2
MRPL47 is among 14 MRP genes significantly upregulated in hepatocellular carcinoma with good diagnostic performance
PMID: 37407805
3
MRPL47 identified as novel biomarker for lung squamous cell carcinoma with higher expression at mRNA and protein levels
PMID: 36742449
4
MRPL47 is a differentially expressed gene identified as potential biomarker for sarcopenia diagnosis
PMID: 37347997
5
MRPL47 identified as hub gene associated with vitiligo development and validated by independent dataset
PMID: 32756109
6
MRPL47 variant rs10513762 shows increased risk for vincristine-induced peripheral neuropathy in childhood acute lymphoblastic leukemia
PMID: 30191766
7
MRPL47 region shows suggestive genome-wide linkage to Leber hereditary optic neuropathy expression in Thai pedigrees
PMID: 20407791
Disease Associationsⓘ20
Delayed speech and language developmentOpen Targets
0.30Weak
Aplasia/Hypoplasia of the nailsOpen Targets
0.27Weak
atrial heart septal defectOpen Targets
0.27Weak
BAFopathyOpen Targets
0.27Weak
Broad nasal tipOpen Targets
0.27Weak
Cleft anterior mitral valve leafletOpen Targets
0.27Weak
Coarse facial featuresOpen Targets
0.27Weak
gastroesophageal reflux diseaseOpen Targets
0.27Weak
Inguinal herniaOpen Targets
0.27Weak
Recurrent otitis mediaOpen Targets
0.27Weak
stapes ankylosis with broad thumbs and toesOpen Targets
0.27Weak
SyncopeOpen Targets
0.27Weak
TorticollisOpen Targets
0.27Weak
Umbilical herniaOpen Targets
0.27Weak
ACTL6A-related BAFopathyOpen Targets
0.15Weak
genetic disorderOpen Targets
0.15Weak
Global developmental delayOpen Targets
0.12Weak
placenta praeviaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL52Shared pathway100%MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%MRPS16Protein interaction100%MRPS11Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
76%
Brain
54%
Liver
45%
Lung
30%
Ovary
23%
Gene Interaction Network
Click a node to explore
MRPL47MRPL52MRPS6MRPS9MRPL36MRPS16MRPS11
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.72–1.51]
RankingsWhere MRPL47 stands among ~20K protein-coding genes
  • #6,481of 20,598
    Most Researched73
  • #15,228of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedMRPL47
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
MRPL47 deficiency drives mitochondrial dysfunction via ROS-p38-p21 signaling in non-small cell lung cancer.
PMID: 41407038
J Biol Chem · 2026
1.00
2
Identification of key genes and pathways involved in vitiligo development based on integrated analysis.
PMID: 32756109
Medicine (Baltimore) · 2020
0.89
3
RNA-Sequencing Analysis Identification of Potential Biomarkers for Diagnosis of Sarcopenia.
PMID: 37347997
J Gerontol A Biol Sci Med Sci · 2023
0.78
4
The role of the mitochondrial ribosomal protein family in detecting hepatocellular carcinoma and predicting prognosis, immune features, and drug sensitivity.
PMID: 37407805
Clin Transl Oncol · 2024
0.67
5
Identification of novel biomarkers for lung squamous cell carcinoma.
PMID: 36742449
3 Biotech · 2023
0.56