DUS2 (Dihydrouridine Synthase 2)
tRNA Dihydrouridine Synthase 2, Mitochondrial
Gene Information Card
| Symbol | DUS2 |
|---|---|
| Full Name | dihydrouridine synthase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 54920 ncbi.nlm.nih.gov/gene/54920 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9NX74 |
| OMIM ID | 612256 |
| HGNC ID | 28406 |
| Aliases | PP3111, DUS2L, hDUS2 |
Description
DUS2 encodes a mitochondrial dihydrouridine synthase that catalyzes the conversion of uridine to dihydrouridine in tRNA molecules. This modification is important for tRNA stability and proper protein translation. The enzyme is localized to mitochondria and is involved in cellular energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain disorders | Defective tRNA modification leads to impaired mitochondrial translation and energy production | ClinVar, OMIM |
| Breast cancer | Overexpression of DUS2 has been observed in breast cancer tissues, potentially affecting translation of mitochondrial-encoded proteins | COSMIC, NCBI PubMed |
| Colorectal cancer | Somatic mutations in DUS2 have been identified in colorectal cancer samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Kidney | 8.1 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HepG2 | 11.5 | Liver cancer cell line |
| A549 | 9.2 | Lung cancer cell line |
| MCF7 | 8.7 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.001% | Unknown functional effect |
| c.512C>T (p.Pro171Leu) | Missense | 0.002% | Reported in COSMIC for colorectal cancer |
| c.743_744del (p.Gln248Argfs*12) | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity, impairing tRNA modification.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • tRNA dihydrouridine synthase activity (GO:0017150) | • mitochondrion (GO:0005739) |
| • tRNA processing (GO:0008033) | • tRNA modification (GO:0006400) |
Pathways
• tRNA modification in mitochondria
• Mitochondrial translation
Protein Summary
DUS2 is a 45 kDa mitochondrial protein containing a flavin mononucleotide (FMN) binding domain and a catalytic domain responsible for reducing uridine to dihydrouridine in tRNA. The enzyme is essential for proper mitochondrial translation and cellular respiration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUS2 Knockout HEK293 Cell Line | EDJ-KQ13222 | Human | 54920 | Details Get a Quote |
| DUS2 Knockout A-549 Cell Line | EDC90698 | Human | 54920 | Details Get a Quote |
| DUS2 Knockout HCT 116 Cell Line | EDJ-KQ42595 | Human | 54920 | Details Get a Quote |
| DUS2 Knockout HeLa Cell Line | EDJ-KQ42596 | Human | 54920 | Details Get a Quote |
| DUS2 Knockout Hep-G2 Cell Line | EDJ-KZ196 | Human | 54920 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
