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GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TRMT2B
tRNA methyltransferase 2B
Chromosome X · Xq22.1
NCBI Gene: 79979Ensembl: ENSG00000188917.16HGNC: HGNC:25748UniProt: Q96GJ1
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial matrixtRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependentrRNA (uridine-C5-)-methyltransferase activitygoutgliomaamyotrophic lateral sclerosisjuvenile amyotrophic lateral sclerosis
✦AI Summary

TRMT2B is a mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine (m5U) in mitochondrial RNA species 1. Specifically, TRMT2B catalyzes methylation of uridine at position 54 (m5U54) in all mitochondrial tRNAs and methylates uridine at position 429 (m5U429) in 12S rRNA 1. Despite its enzymatic function, TRMT2B is not essential for cellular viability, with gene knockout showing no obvious effects on RNA stability, mitochondrial translation, or cellular growth 1. Clinically, TRMT2B variants have emerged as relevant to neurodegenerative disease. Missense and splicing variants in TRMT2B were identified in patients with juvenile amyotrophic lateral sclerosis (JALS), with functional studies revealing mitochondrial dysfunction including decreased mitochondria number, swollen mitochondria, reduced mitochondrial complex I activity, lower aerobic respiration, and elevated reactive oxygen species 2. Additionally, TRMT2B expression is altered in Alzheimer's disease, where it was identified as a downregulated gene potentially involved in neuroinflammatory pathways 3. TRMT2B also serves as one of six mitochondrial RNA modification-related genes in a prognostic signature for lower grade gliomas 4.

Sources cited
1
TRMT2B catalyzes m5U54 formation in mitochondrial tRNAs and m5U429 in 12S rRNA; not essential for viability or mitochondrial translation
PMID: 31948311
2
TRMT2B variants associated with juvenile ALS; variants cause mitochondrial dysfunction and reduced complex I activity
PMID: 37874476
3
TRMT2B downregulated in Alzheimer's disease and involved in inflammatory pathways
PMID: 36672701
4
TRMT2B included in mitochondrial RNA modification signature for lower grade glioma prognosis
PMID: 38824202
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
goutOpen Targets
0.17Weak
gliomaOpen Targets
0.02Suggestive
amyotrophic lateral sclerosisOpen Targets
0.02Suggestive
juvenile amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
congenital heart diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
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%TRMT2AShared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
73%
Bone Marrow
70%
Ovary
69%
Liver
57%
Brain
48%
Gene Interaction Network
Click a node to explore
TRMT2BRBMS2RTCAZRANB2SUGP2U2SURPTRMT2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96GJ1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.65–1.14]
RankingsWhere TRMT2B stands among ~20K protein-coding genes
  • #13,787of 20,598
    Most Researched22
  • #11,844of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedTRMT2B
Sources retrieved5 papers
Response time—
📄 Sources
5
1
TRMT2B is responsible for both tRNA and rRNA m
PMID: 31948311
RNA Biol · 2020
1.00
2
Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis.
PMID: 37874476
Front Med · 2024
0.80
3
Mitochondrial RNA modification-based signature to predict prognosis of lower grade glioma: a multi-omics exploration and verification study.
PMID: 38824202
Sci Rep · 2024
0.60
4
The Inflammatory Gene
PMID: 36672701
Biomedicines · 2023
0.40
5
FICC-Seq: a method for enzyme-specified profiling of methyl-5-uridine in cellular RNA.
PMID: 31361898
Nucleic Acids Res · 2019
0.20