METTL8
Methyltransferase Like 8: A Mitochondrial tRNA Modifier and Emerging Cancer Biomarker
Gene Information Card
| Symbol | METTL8 |
|---|---|
| Full Name | Methyltransferase Like 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 79828 ncbi.nlm.nih.gov/gene/79828 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 617565 |
| HGNC ID | 24772 |
| Aliases | METTL8, FLJ22041, MGC131809 |
Description
METTL8 encodes a methyltransferase-like protein that localizes to mitochondria and catalyzes the 3-methylcytidine (m3C) modification of mitochondrial tRNAs, particularly tRNA-Thr and tRNA-Ser. This modification is essential for mitochondrial translation and oxidative phosphorylation. METTL8 is implicated in cellular differentiation and cancer progression, with altered expression observed in various malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of METTL8 expression affects mitochondrial translation and energy metabolism, promoting tumor growth | NCBI Gene, COSMIC |
| Colorectal cancer | METTL8 overexpression correlates with poor prognosis and increased cell proliferation | ClinVar, COSMIC |
| Hepatocellular carcinoma | METTL8 upregulation enhances mitochondrial function and tumorigenesis | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Colon | 6.1 | Low |
| Breast | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| HCT116 | 9.5 | Colorectal cancer cell line |
| HepG2 | 7.4 | Hepatocellular carcinoma cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.1% | Unknown functional impact |
| c.452G>A (p.Arg151His) | Missense | <0.1% | Reported in COSMIC |
| c.788_789insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.788_789insA) are predicted to truncate the protein, impairing tRNA methyltransferase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • methyltransferase activity (GO:0008168) |
| • mitochondrion (GO:0005739) | • tRNA methylation (GO:0030488) |
| • RNA (cytidine-3-)-methyltransferase activity (GO:0036265) |
Pathways
• Mitochondrial tRNA modification
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
METTL8 is a 348-amino acid mitochondrial methyltransferase that specifically modifies cytidine to 3-methylcytidine at position 32 of mitochondrial tRNAs. This modification stabilizes tRNA structure and is critical for efficient mitochondrial protein synthesis. The protein contains a conserved methyltransferase domain and is ubiquitously expressed, with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL8 Knockout HEK293 Cell Line | EDJ-KQ14240 | Human | 79828 | Details Get a Quote |
| METTL8 Knockout A-549 Cell Line | EDJ-KQ44226 | Human | 79828 | Details Get a Quote |
| METTL8 Knockout HCT 116 Cell Line | EDJ-KQ44227 | Human | 79828 | Details Get a Quote |
| METTL8 Knockout HeLa Cell Line | EDJ-KQ44228 | Human | 79828 | Details Get a Quote |
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