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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TRMT2A
tRNA methyltransferase 2A
Chromosome 22 · 22q11.21
NCBI Gene: 27037Ensembl: ENSG00000099899.16HGNC: HGNC:24974UniProt: F2Z2W7
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependentprotein bindingC-methyltransferase activityRNA bindingalcohol drinkingtransient myeloproliferative syndromeIrritabilityhemoglobin D disease
✦AI Summary

TRMT2A (tRNA methyltransferase 2A) is an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyluridine (m5U) in cytosolic tRNAs and some mRNAs 1. The enzyme specifically methylates uridine at position 54 (m5U54) in tRNAs, with specificity achieved through a combination of modest binding preference and recognition of target uridine residues 2. TRMT2A contains an RNA recognition motif (RRM) in its N-terminus and a conserved uracil-C5-methyltransferase domain in its C-terminus 3. Beyond tRNA modification, TRMT2A contributes to translation fidelity, as knockdown reduces translation accuracy 2. The enzyme plays regulatory roles in cell cycle control, with overexpression decreasing cell proliferation and altering DNA content 3. Clinically, TRMT2A is implicated in polyglutamine (polyQ) diseases including Huntington's disease; silencing TRMT2A reduces polyQ-associated cell death and protein aggregation 4. Additionally, TRMT2A modulation by 5-fluorouracil contributes to cancer cytotoxicity 1, and dysregulated TRMT2A expression associates with severe COVID-19 disease 5. TRMT2A co-expression with COMT in the 22q11.2 region may contribute to neuropsychiatric disorders including schizophrenia 6.

Sources cited
1
TRMT2A catalyzes m5U formation primarily at position U54 in cytosolic tRNAs; FICC-Seq method confirmed TRMT2A responsibility for majority of m5U in human RNA
PMID: 31361898
2
TRMT2A knockdown reduces translation fidelity; specificity achieved through binding preference and uridine recognition at position 54
PMID: 37395448
3
TRMT2A contains RRM in N-terminus and conserved uracil-C5-methyltransferase domain in C-terminus; overexpression decreases cell proliferation and affects cell cycle
PMID: 30502085
4
TRMT2A modulation reduces polyQ aggregation and polyQ-induced cell death in polyglutamine diseases like Huntington's disease
PMID: 35070167
5
5-Fluorouracil exposure causes irreversible TRMT2A-tRNA crosslinking, suggesting RNA-dependent mechanism for fluorouracil cytotoxicity
PMID: 31361898
6
TRMT2A is upregulated in severe COVID-19 and represents a potential biomarker for disease severity
PMID: 37347079
7
TRMT2A shows disrupted co-expression with COMT in schizophrenia patients; both genes spatially associated with differential resting-state connectivity in 22q11.2 deletion
PMID: 34455061
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.05Suggestive
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
IrritabilityOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
thiamine-responsive megaloblastic anemia syndromeOpen Targets
0.03Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
hemochromatosis type 4Open Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.03Suggestive
isolated aniridiaOpen Targets
0.03Suggestive
birdshot chorioretinopathyOpen Targets
0.03Suggestive
exfoliation syndromeOpen Targets
0.03Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.03Suggestive
Brugada syndromeOpen Targets
0.03Suggestive
exudative vitreoretinopathyOpen Targets
0.03Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.03Suggestive
isolated congenital megalocorneaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBMS2Shared pathway100%RTCAShared pathway100%ZRANB2Shared pathway100%SUGP2Shared pathway100%U2SURPShared pathway100%RMP24Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
66%
Lung
55%
Bone Marrow
52%
Heart
37%
Brain
23%
Gene Interaction Network
Click a node to explore
TRMT2ARBMS2RTCAZRANB2SUGP2U2SURPRMP24
PROTEIN STRUCTURE
Preparing viewer…
PDB7NTO · 1.23 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.10 [0.89–1.36]
RankingsWhere TRMT2A stands among ~20K protein-coding genes
  • #7,027of 20,598
    Most Researched67
  • #14,194of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedTRMT2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human TRMT2A methylates tRNA and contributes to translation fidelity.
PMID: 37395448
Nucleic Acids Res · 2023
1.00
2
Differential resting-state patterns across networks are spatially associated with Comt and Trmt2a gene expression patterns in a mouse model of 22q11.2 deletion.
PMID: 34455061
Neuroimage · 2021
0.90
3
FICC-Seq: a method for enzyme-specified profiling of methyl-5-uridine in cellular RNA.
PMID: 31361898
Nucleic Acids Res · 2019
0.80
4
Crystal structure of the RNA-recognition motif of Drosophila melanogaster tRNA (uracil-5-)-methyltransferase homolog A.
PMID: 38270511
Acta Crystallogr F Struct Biol Commun · 2024
0.70
5
Chemistry of Fluorinated Pyrimidines in the Era of Personalized Medicine.
PMID: 32751071
Molecules · 2020
0.60