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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRUB2
TruB pseudouridine synthase family member 2
Chromosome 9 · 9q34.11
NCBI Gene: 26995Ensembl: ENSG00000167112.11HGNC: HGNC:17170UniProt: O95900
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingpseudouridine synthase activitytRNA pseudouridine(55) synthase activitymitochondrial tRNA pseudouridine synthesisneurodegenerative diseaseobesityhypertriglyceridemia 2familial hypercholesterolemia
✦AI Summary

TRUB2 is a pseudouridine synthase that catalyzes the post-transcriptional isomerization of uridine to pseudouridine (Ψ) in mitochondrial RNAs. As a component of a functional protein-RNA module containing RCC1L, NGRN, RPUSD3, RPUSD4, FASTKD2, and 16S mitochondrial rRNA, TRUB2 regulates 16S mt-rRNA abundance and is essential for intra-mitochondrial translation and oxidative phosphorylation 1. TRUB2 catalyzes pseudouridylation of specific mitochondrial mRNAs, including COXI and COXIII 2, and produces pseudouridine-55 in mitochondrial tRNAs within the psi GC loop 3. Mechanistically, TRUB2 modifies specific residues in mitochondrial mRNAs that are critical for ribosomal assembly and protein synthesis; depletion of TRUB2 results in mitochondrial protein synthesis defects and oxidative phosphorylation assembly failures without affecting mRNA levels 2. While earlier studies suggested TRUB2 possessed enzymatic activity, recent comprehensive pseudouridine mapping revealed that TRUB2 does not exhibit noticeable enzymatic activity in human cells 4. TRUB2 is essential for cell viability, as knockout studies confirmed it as a core essential gene 2. Given its role in mitochondrial translation, TRUB2 dysfunction likely contributes to mitochondrial disorders and metabolic diseases.

Sources cited
1
TRUB2 is part of a functional module (with NGRN, RPUSD3, RPUSD4, FASTKD2, 16S mt-rRNA) that regulates 16S mt-rRNA and is essential for intra-mitochondrial translation and OXPHOS
PMID: 27667664
2
TRUB2 pseudouridylates specific mitochondrial mRNAs (COXI, COXIII); depletion causes mitochondrial protein synthesis defects without affecting mRNA levels; TRUB2 is identified as a core essential gene
PMID: 27974379
3
TRUB2 produces pseudouridine-55 in mitochondrial tRNAs in the psi GC loop; TRUB2 Ψ55 synthase activity is primarily localized to mitochondria
PMID: 33023933
4
Recent comprehensive tRNA pseudouridine mapping revealed that TRUB2 does not exhibit noticeable enzymatic activity in human cells
PMID: 41136621
5
TRUB2 is a human TruB family member located on chromosome 9 and is predicted to function as a tRNA pseudouridine synthase
PMID: 12736709
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
obesityOpen Targets
0.08Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NOP56Protein interaction100%NOP58Protein interaction100%NHP2Protein interaction100%SHQ1Protein interaction100%GAR1Protein interaction99%NAT10Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
81%
Brain
65%
Bone Marrow
35%
Ovary
32%
Lung
26%
Gene Interaction Network
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TRUB2NOP56NOP58NHP2SHQ1GAR1NAT10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95900
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.70–1.24]
RankingsWhere TRUB2 stands among ~20K protein-coding genes
  • #9,954of 20,598
    Most Researched42
  • #13,026of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedTRUB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.
PMID: 27667664
Cell Metab · 2016
1.00
2
A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.
PMID: 41136621
Nat Cell Biol · 2025
0.90
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
0.80
4
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
PMID: 12736709
Int J Mol Med · 2003
0.70
5
Three-dimensional genome landscape comprehensively reveals patterns of spatial gene regulation in papillary and anaplastic thyroid cancers: a study using representative cell lines for each cancer type.
PMID: 36609218
Cell Mol Biol Lett · 2023
0.60