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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DUS2
dihydrouridine synthase 2
Chromosome 16 · 16q22.1
NCBI Gene: 54920Ensembl: ENSG00000167264.18HGNC: HGNC:26014UniProt: B4DKP8
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
antiviral innate immune responsemitochondrionprotein bindingcytosolneurodegenerative diseaselysosomal storage diseaseinterstitial lung diseaseAbnormality of the gastrointestinal tract
✦AI Summary

DUS2 (dihydrouridine synthase 2) catalyzes the NADPH-dependent synthesis of dihydrouridine (D), a modified base in the D-loop of most tRNAs 1. Specifically, DUS2 modifies uridine at position 20 (D20) in cytoplasmic tRNAs, with activity dependent on guanosine presence at position 19 2. Unlike bacterial and fungal homologs, human DUS2 contains three functional modules: an N-terminal catalytic domain binding NADPH flavin cofactor, a conserved α-helical tRNA-binding domain, and an extended double-stranded RNA-binding domain (dsRBD) that serves as the primary tRNA recognition module 3. This unusual dsRBD organization represents an evolutionary innovation distinguishing animal Dus2 enzymes 4. Beyond tRNA modification, DUS2 negatively regulates EIF2AK2/PKR activation, contributing to antiviral immunity 5. Clinically, DUS2 overexpression is associated with lung cancer progression and poorer prognosis through enhanced translation and interaction with aminoacyl-tRNA synthetases 1. DUS2 has also been identified as a shared genetic risk factor in familial autoimmune diseases including systemic lupus erythematosus and rheumatoid arthritis 6, and functions as a lung-specific metastasis driver in cancer 7. Additionally, DUS2 deficiency causes pleiotropic effects on multiple tRNA modifications, suggesting complex RNA modification interdependencies 8.

Sources cited
1
DUS2 catalyzes tRNA dihydrouridine synthesis and is upregulated in lung cancers; knockout reduces growth
PMID: 15994936
2
DUS2 specifically modifies U20 in cytoplasmic tRNAs; activity requires guanosine at position 19
PMID: 38680565
3
Human DUS2 contains three modules including extended dsRBD that serves as primary tRNA binding domain
PMID: 26429968
4
Human Dus2 evolved unique electrostatic properties and dsRBD compared to fungal orthologs
PMID: 30149704
5
Dus2 is involved in human cancers and β-amyloid detoxification in Alzheimer's disease
PMID: 36551188
6
DUS2 negatively regulates EIF2AK2/PKR activation in antiviral immunity
PMID: 18096616
7
DUS2 variant cosegregates with systemic lupus erythematosus, rheumatoid arthritis, and Sjögren's syndrome in families
PMID: 31848144
8
DUS2 identified as lung-specific metastasis driver in breast cancer
PMID: 40307560
9
DUS2 loss causes pleiotropic effects on other tRNA modifications in mitochondrial tRNAs
PMID: 40654949
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
lysosomal storage diseaseOpen Targets
0.26Weak
interstitial lung diseaseOpen Targets
0.10Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
primary biliary cirrhosisOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
refractive errorOpen Targets
0.04Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.03Suggestive
X-linked dyserythropoetic anemia with abnormal platelets and neutropeniaOpen Targets
0.03Suggestive
thrombocytopenia with congenital dyserythropoietic anemiaOpen Targets
0.03Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EPRS1Protein interaction99%TRMT1Protein interaction73%TRIT1Protein interaction70%TRMT5Protein interaction70%TRMT1LShared pathway50%DUS1LShared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
95%
Bone Marrow
73%
Ovary
64%
Heart
57%
Brain
56%
Gene Interaction Network
Click a node to explore
DUS2EPRS1TRMT1TRIT1TRMT5TRMT1LDUS1L
PROTEIN STRUCTURE
Preparing viewer…
PDB4WFT · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.88]
RankingsWhere DUS2 stands among ~20K protein-coding genes
  • #11,144of 20,598
    Most Researched34
  • #7,747of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedDUS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A battery-free nanofluidic intracellular delivery patch for internal organs.
PMID: 40307560
Nature · 2025
1.00
2
Electrostatic Potential in the tRNA Binding Evolution of Dihydrouridine Synthases.
PMID: 30149704
Biochemistry · 2018
0.90
3
Concurrent detection of chemically modified bases in yeast mitochondrial tRNAs by Nanopore direct RNA sequencing.
PMID: 40654949
bioRxiv · 2025
0.80
4
Unraveling NEK4 as a Potential Drug Target in Schizophrenia and Bipolar I Disorder: A Proteomic and Genomic Approach.
PMID: 38869147
Schizophr Bull · 2024
0.70
5
Evolutionary Diversity of Dus2 Enzymes Reveals Novel Structural and Functional Features among Members of the RNA Dihydrouridine Synthases Family.
PMID: 36551188
Biomolecules · 2022
0.60