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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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METTL5
methyltransferase 5, N6-adenosine
Chromosome 2 Β· 2q31.1
NCBI Gene: 29081Ensembl: ENSG00000138382.16HGNC: HGNC:25006UniProt: Q9NRN9
29PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoluspresynapsepostsynapseprotein bindingintellectual developmental disorder, autosomal recessive 72Severe intellectual disabilitymicrocephaly with intellectual disabilityautosomal recessive primary microcephaly
✦AI Summary

METTL5 is a catalytic methyltransferase that forms a heterodimeric complex with TRMT112 to install N6-methyladenosine (m6A) modifications at position 1832 of 18S ribosomal RNA 1. This m6A modification resides in the decoding center of 18S rRNA and is essential for proper translation initiation and function 2. Beyond its canonical rRNA methylation role, METTL5 has emerged as a critical regulator of selective protein translation in multiple cancer contexts. In hepatocellular carcinoma, METTL5 enhances USP5 translation, stabilizing c-Myc and promoting glycolytic reprogramming 3. In ovarian cancer, METTL5 modulates ATF4 translation to suppress ferroptosis and enable immune evasion 4. Similarly, METTL5 in liver cancer regulates CXCL16 translation to exclude CD8+ T cells from the tumor microenvironment 5. In multiple myeloma, METTL5 influences SEPHS2-mediated selenoprotein synthesis, promoting cell survival 6. METTL5 dysregulation is associated with intellectual developmental disorder, autosomal recessive 72, and elevated METTL5 expression correlates with poor prognosis across multiple malignancies 7. These findings establish METTL5 as a pleiotropic regulator of translation with significant implications for both developmental biology and cancer therapeutics.

Sources cited
1
METTL5 forms a heterodimeric complex with TRMT112 and installs m6A at position 1832 of 18S rRNA
PMID: 31328227
2
m6A modification at A-1832 of 18S rRNA is essential for translation and stem cell differentiation
PMID: 36266443
3
METTL5 promotes USP5 translation and c-Myc stability to drive glycolytic reprogramming in hepatocellular carcinoma
PMID: 36602428
4
METTL5 regulates ATF4 translation to suppress ferroptosis and prevent T cell-induced immunity in ovarian cancer
PMID: 41042068
5
METTL5 regulates CXCL16 translation to exclude CD8+ T cells and promote immune evasion in liver cancer
PMID: 41431992
6
METTL5 influences SEPHS2-mediated selenoprotein synthesis to promote multiple myeloma progression
PMID: 40750759
7
METTL5 and other METTL family members regulate translation and affect tumorigenesis across multiple cancer types
PMID: 37533128
Disease Associationsβ“˜21
intellectual developmental disorder, autosomal recessive 72Open Targets
0.70Strong
Severe intellectual disabilityOpen Targets
0.43Moderate
autosomal recessive primary microcephalyOpen Targets
0.37Weak
microcephaly with intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
IGA glomerulonephritisOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
preeclampsiaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
dry eye syndromeOpen Targets
0.07Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.05Suggestive
pericarditisOpen Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
Intellectual developmental disorder, autosomal recessive 72UniProt
Pathogenic Variants9
NM_014168.4(METTL5):c.541+1G>CPathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜…β˜†β˜†2025
NM_014168.4(METTL5):c.344_345del (p.Arg115fs)Pathogenic
Severe intellectual disability|Intellectual developmental disorder, autosomal recessive 72
β˜…β˜…β˜†β˜†2023β†’ Residue 115
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)Pathogenic
Severe intellectual disability|Intellectual developmental disorder, autosomal recessive 72|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 191
NM_014168.4(METTL5):c.196dup (p.Ser66fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2024β†’ Residue 66
NM_014168.4(METTL5):c.542-1G>TPathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2024
NM_014168.4(METTL5):c.225-1G>TLikely pathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2024
NM_014168.4(METTL5):c.224+1G>APathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2024
NM_014168.4(METTL5):c.591+2T>GPathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2022
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTCLikely pathogenic
Intellectual developmental disorder, autosomal recessive 72
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
RBM15Protein interaction100%METTL3Protein interaction100%WTAPProtein interaction92%ZC3H13Protein interaction92%VIRMAProtein interaction92%TRMT112Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Brain
72%
Liver
61%
Bone Marrow
54%
Ovary
45%
Lung
43%
Gene Interaction Network
Click a node to explore
METTL5RBM15METTL3WTAPZC3H13VIRMATRMT112
PROTEIN STRUCTURE
Preparing viewer…
PDB9OHL Β· 1.29 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.28 [0.90–1.80]
RankingsWhere METTL5 stands among ~20K protein-coding genes
  • #12,182of 20,598
    Most Researched29
  • #2,992of 5,498
    Most Pathogenic Variants9
  • #16,563of 17,882
    Most Constrained (LOEUF)1.80
Genes detectedMETTL5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A comprehensive review of m6A/m6Am RNA methyltransferase structures.
PMID: 34023900
Nucleic Acids Res Β· 2021
1.00
2
METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression.
PMID: 36602428
Cancer Commun (Lond) Β· 2023
0.90
3
Methyltransferase-like proteins in cancer biology and potential therapeutic targeting.
PMID: 37533128
J Hematol Oncol Β· 2023
0.80
4
The human 18S rRNA m6A methyltransferase METTL5 is stabilized by TRMT112.
PMID: 31328227
Nucleic Acids Res Β· 2019
0.70
5
The emerging importance of METTL5-mediated ribosomal RNA methylation.
PMID: 36266443
Exp Mol Med Β· 2022
0.60