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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NSUN4
NOP2/Sun RNA methyltransferase 4
Chromosome 1 · 1p33
NCBI Gene: 387338Ensembl: ENSG00000117481.13HGNC: HGNC:31802UniProt: A8K8I8
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial RNA modificationmitochondrial large ribosomal subunit assemblymitochondrionneurodegenerative diseaseprostate carcinomaAlzheimer diseasehepatocellular carcinoma
✦AI Summary

NSUN4 is a mitochondrial RNA cytosine methyltransferase that catalyzes 5-methylcytosine (m5C) modification of various RNAs including mitochondrial rRNAs, mRNAs, and long non-coding RNAs 1. The enzyme plays a crucial role in mitochondrial ribosome biogenesis by methylating 12S rRNA in the small subunit, functioning independently of MTERFD2/MTERF4 1. NSUN4 also regulates innate immunity by marking mitochondrial double-stranded RNAs for degradation through m5C modification, particularly targeting light-strand lncRNA termini 1. The m5C-modified RNAs are recognized by C1QBP, which recruits degradation machinery to promote RNA turnover and cytosolic release 1. In cancer contexts, NSUN4 demonstrates significant oncogenic properties across multiple tumor types. It promotes glioma progression by stabilizing CDC42 mRNA through m5C-mediated ALYREF binding, activating PI3K-AKT signaling 2. In lung cancers, NSUN4 enhances circular RNA nuclear export and regulates mitochondrial energy metabolism 34. Clinically, NSUN4 overexpression correlates with poor prognosis in hepatocellular carcinoma and serves as an independent prognostic marker 5. Mendelian randomization studies suggest potential causal relationships between NSUN4 expression levels and breast/prostate cancer risks 6.

Sources cited
1
NSUN4 catalyzes m5C modification of mitochondrial RNAs and regulates innate immunity through mt-dsRNA degradation
PMID: 39019044
2
NSUN4 promotes glioma progression by stabilizing CDC42 mRNA through m5C-mediated mechanisms
PMID: 38876383
3
NSUN4 enhances circular RNA nuclear export and affects mitochondrial energy metabolism in lung cancer
PMID: 39332589
4
NSUN4 potentiates lung squamous cell carcinoma through m5C methylation of DHCR24
PMID: 40815570
5
NSUN4 is upregulated in hepatocellular carcinoma and serves as an independent prognostic marker
PMID: 34744073
6
Mendelian randomization analysis suggests causal relationships between NSUN4 and breast/prostate cancer risks
PMID: 36634566
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
prostate carcinomaOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.26Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.07Suggestive
acute lymphoblastic leukemiaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
gliomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
parasitic infectionOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
cervical squamous cell carcinomaOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.01Suggestive
post-traumatic stress disorderOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL22Protein interaction100%MRPL20Protein interaction100%TUFMProtein interaction100%MRPL13Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
65%
Ovary
64%
Lung
61%
Liver
59%
Brain
53%
Gene Interaction Network
Click a node to explore
NSUN4MRPL19MRPL27MRPL22MRPL20TUFMMRPL13
PROTEIN STRUCTURE
Preparing viewer…
PDB4FZV · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.52–0.93]
RankingsWhere NSUN4 stands among ~20K protein-coding genes
  • #8,467of 20,598
    Most Researched53
  • #8,576of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedNSUN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial related genome-wide Mendelian randomization identifies putatively causal genes for multiple cancer types.
PMID: 36634566
EBioMedicine · 2023
1.00
2
NSUN4 mediated RNA 5-methylcytosine promotes the malignant progression of glioma through improving the CDC42 mRNA stabilization.
PMID: 38876383
Cancer Lett · 2024
0.90
3
RNA 5-methylcytosine marks mitochondrial double-stranded RNAs for degradation and cytosolic release.
PMID: 39019044
Mol Cell · 2024
0.80
4
NSUN4-mediated m5C modification of circERI3 promotes lung cancer development by altering mitochondrial energy metabolism.
PMID: 39332589
Cancer Lett · 2024
0.70
5
USP8 deubiquitylation-boosted NSUN4 potentiates lung squamous cell carcinoma progression by m5C methylation of DHCR24.
PMID: 40815570
Cell Rep · 2025
0.60