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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
METTL4
methyltransferase 4, N6-adenosine
Chromosome 18 Β· 18p11.32
NCBI Gene: 64863Ensembl: ENSG00000101574.15HGNC: HGNC:24726UniProt: J3KNJ7
15PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mRNA N6-methyladenosine dioxygenase activityregulation of mitochondrial DNA replicationsnRNA (adenine-N6)-methylationregulation of mitochondrial transcriptionneurodegenerative diseasealcohol drinkingheart conduction diseasebronchial disease
✦AI Summary

METTL4 is a dual-specificity N6-adenine methyltransferase that catalyzes methylation of both RNA and DNA substrates. Its primary RNA function involves catalyzing N6,2'-O-dimethyladenosine (m6Am) formation at position 30 of U2 small nuclear RNA (snRNA), which regulates pre-mRNA splicing by affecting splice site recognition and exon inclusion 1. METTL4 also acts as a mitochondrial DNA N6-methyldeoxyadenosine (6mA) methyltransferase, with mammalian mtDNA containing approximately 1,300-fold higher 6mA levels than genomic DNA 2. Mechanistically, METTL4-mediated mtDNA 6mA methylation represses mitochondrial gene transcription by inhibiting TFAM DNA-binding and reducing mtDNA copy number, leading to mitochondrial dysfunction 2. This mitochondrial dysfunction involves disruption of complex V activity and subsequent inflammasome activation through cytoplasmic mtDNA release 3. Disease relevance includes roles in atherosclerosis, where METTL4 expression is elevated in plaque macrophages and promotes inflammatory responses 3, hypertensive chr18 kidney disease through tubular epithelial cell mitochondrial dysfunction 4, and liver fibrosis via ferroptosis regulation 5. Clinically, METTL4 represents a potential therapeutic target, with antagonists like pemetrexed showing promise in treating atherosclerosis 3.

Sources cited
1
METTL4 catalyzes m6Am formation in U2 snRNA at position 30 and regulates pre-mRNA splicing
PMID: 32813009
2
METTL4 mediates mtDNA 6mA methylation and mammalian mtDNA contains 1,300-fold higher 6mA levels than genomic DNA
PMID: 32183942
3
METTL4-mediated mtDNA methylation causes mitochondrial dysfunction and inflammasome activation in atherosclerosis
PMID: 39687989
4
METTL4 contributes to hypertensive chronic kidney disease through tubular epithelial cell mitochondrial dysfunction
PMID: 40677234
5
METTL4 is involved in liver fibrosis through ferroptosis regulation
PMID: 34607160
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.15Weak
bronchial diseaseOpen Targets
0.13Weak
gastric ulcerOpen Targets
0.13Weak
heart conduction diseaseOpen Targets
0.13Weak
hemorrhageOpen Targets
0.13Weak
Abruptio PlacentaeOpen Targets
0.13Weak
pneumonitisOpen Targets
0.13Weak
Tietze syndromeOpen Targets
0.13Weak
spondylolisthesisOpen Targets
0.12Weak
chronic ulcer of skinOpen Targets
0.12Weak
nerve plexus diseaseOpen Targets
0.12Weak
neuroendocrine neoplasmOpen Targets
0.12Weak
ovarian neoplasmOpen Targets
0.12Weak
aortic diseaseOpen Targets
0.12Weak
bipolar disorderOpen Targets
0.12Weak
ulcerative colitisOpen Targets
0.12Weak
aneurysmOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
Pathogenic Variants1
NM_022840.5(METTL4):c.829+1G>ALikely pathogenic
not provided|Clear cell carcinoma of kidney
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
ALKBH1Protein interaction76%WTAPProtein interaction76%VIRMAProtein interaction76%HEMK2Protein interaction76%ALKBH5Protein interaction76%METTL3Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
90%
Ovary
86%
Heart
85%
Lung
58%
Liver
57%
Gene Interaction Network
Click a node to explore
METTL4ALKBH1WTAPVIRMAHEMK2ALKBH5METTL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N3J2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.60–1.13]
RankingsWhere METTL4 stands among ~20K protein-coding genes
  • #15,624of 20,598
    Most Researched15
  • #5,433of 5,498
    Most Pathogenic Variants1
  • #11,654of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedMETTL4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
METTL4-Mediated Mitochondrial DNA N6-Methyldeoxyadenosine Promoting Macrophage Inflammation and Atherosclerosis.
PMID: 39687989
Circulation Β· 2025
1.00
2
Methyltransferase-like proteins in cancer biology and potential therapeutic targeting.
PMID: 37533128
J Hematol Oncol Β· 2023
0.90
3
N
PMID: 32183942
Mol Cell Β· 2020
0.80
4
Structural Basis for Cooperative Function of Mettl3 and Mettl14 Methyltransferases.
PMID: 27373337
Mol Cell Β· 2016
0.70
5
Targeting N
PMID: 40677234
Hypertension Β· 2025
0.60