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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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METTL8
methyltransferase 8, tRNA N3-cytidine
Chromosome 2 · 2q31.1
NCBI Gene: 79828Ensembl: ENSG00000123600.21HGNC: HGNC:25856UniProt: A8K7U3
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA methyltransferase activitynucleuscytoplasmtRNA C3-cytosine methylationWoodhouse-Sakati syndromekidney transplantulcerative colitisliver disease
✦AI Summary

METTL8 is a mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that catalyzes N(3)-methylcytidine (m3C) modification at position 32 in the anticodon loop of mitochondrial tRNA(Ser)(UCN) and tRNA(Thr) 12. The enzyme localizes to the mitochondrial matrix through an N-terminal mitochondrial targeting sequence 32. Substrate recognition requires specific determinants: U34G35 motif and t6A37/(ms2)i6A37 modifications, which are present only in the two target mt-tRNAs 1. METTL8 also interacts with mitochondrial seryl-tRNA synthetase (SARS2), which modestly enhances its methylation activity 3. The m3C32 modification influences mt-tRNA structure and folding 21, and is essential for optimal mitochondrial protein translation and respiratory chain activity 45. Alternative splicing generates multiple METTL8 isoforms, with mitochondrial isoform 1 responsible for mt-tRNA modification and nucleolar isoform 4 potentially involved in R-loop regulation 3. METTL8 dysfunction impairs cortical neurogenesis by disrupting neural stem cell maintenance 4 and contributes to glioblastoma malignancy through HIF1α/RTK/Akt pathway activation 5. Additionally, METTL8 mediates lenvatinib resistance in hepatocellular carcinoma, making it a potential therapeutic target 6.

Sources cited
1
METTL8 installs m3C32 in mitochondrial tRNA(Thr) and tRNA(Ser)(UCN) with specific substrate recognition requirements
PMID: 35017528
2
METTL8 is mitochondria-associated and required for m3C formation in mt-tRNAs, affecting tRNA structure
PMID: 35247384
3
Alternative splicing generates METTL8 isoforms with different subcellular localizations and SARS2 interaction
PMID: 35357504
4
METTL8 is essential for cortical neurogenesis through regulation of neural stem cell maintenance
PMID: 36764294
5
METTL8 promotes glioblastoma malignancy via HIF1α/RTK/Akt pathway and GSC maintenance
PMID: 38744809
6
METTL8 mediates lenvatinib resistance in hepatocellular carcinoma and represents a therapeutic target
PMID: 39701355
Disease Associationsⓘ20
Woodhouse-Sakati syndromeOpen Targets
0.54Moderate
kidney transplantOpen Targets
0.31Weak
ulcerative colitisOpen Targets
0.30Weak
liver diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.26Weak
pericarditisOpen Targets
0.24Weak
genetic disorderOpen Targets
0.18Weak
hemiplegiaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
osteoarthritis, kneeOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.04Suggestive
thyroid diseaseOpen Targets
0.03Suggestive
Pallister-Hall syndromeOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TAX1BP3Protein interaction88%METTL25Protein interaction79%PABPC3Shared pathway33%PNRC1Shared pathway33%PCBP3Shared pathway33%RMND1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
70%
Heart
63%
Liver
59%
Bone Marrow
59%
Lung
55%
Gene Interaction Network
Click a node to explore
METTL8TAX1BP3METTL25PABPC3PNRC1PCBP3RMND1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H825
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.37–0.86]
RankingsWhere METTL8 stands among ~20K protein-coding genes
  • #13,238of 20,598
    Most Researched24
  • #7,473of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedMETTL8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epitranscriptomic regulation of cortical neurogenesis via Mettl8-dependent mitochondrial tRNA m
PMID: 36764294
Cell Stem Cell · 2023
1.00
2
METTL8 links mt-tRNA m
PMID: 38744809
Cell Death Dis · 2024
0.90
3
Modifications and interactions at the R-loop.
PMID: 32961406
DNA Repair (Amst) · 2020
0.80
4
Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8.
PMID: 35357504
Nucleic Acids Res · 2022
0.70
5
Targeting METTL8 with Rabdosiin overcomes lenvatinib resistance in hepatocellular carcinoma.
PMID: 39701355
Exp Cell Res · 2025
0.60