DUS2 (dihydrouridine synthase 2)

Gene

• Entrez ID: 54920
• Gene name: Dihydrouridine synthase 2
• Gene symbol: DUS2
• Synonyms (NCBI Gene): DUS2L, SMM1, URLC8
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of tran

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT727847	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727846	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727845	hsa-miR-32-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0002943	Process	TRNA dihydrouridine synthesis	IBA
GO:0002943	Process	TRNA dihydrouridine synthesis	IDA	26429968, 34798057, 38680565
GO:0002943	Process	TRNA dihydrouridine synthesis	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IDA	18096616
GO:0004860	Function	Protein kinase inhibitor activity	IDA	18096616
GO:0005515	Function	Protein binding	IPI	18096616
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0010181	Function	FMN binding	IDA	26429968
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0017150	Function	TRNA dihydrouridine synthase activity	IBA
GO:0017150	Function	TRNA dihydrouridine synthase activity	IDA	26429968
GO:0017150	Function	TRNA dihydrouridine synthase activity	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0070402	Function	NADPH binding	IDA	26429968
GO:0102264	Function	TRNA-dihydrouridine20 synthase activity	IDA	38680565
GO:0102264	Function	TRNA-dihydrouridine20 synthase activity	IEA
GO:0140374	Process	Antiviral innate immune response	IPI	18096616

Other IDs

• MIM: 609707
• HGNC: 26014
• e!Ensembl: ENSG00000167264

Protein

• UniProt ID: Q9NX74
• Protein name: tRNA-dihydrouridine(20) synthase [NAD(P)+]-like (EC 1.3.1.91) (Dihydrouridine synthase 2) (Up-regulated in lung cancer protein 8) (URLC8) (tRNA-dihydrouridine synthase 2-like) (hDUS2)
• Protein function: Catalyzes the NADPH-dependent synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs (PubMed:15994936, PubMed:26429968, PubMed:30149704, PubMed:34798057, PubMed:38680565). Specifically modifies U20 in cytoplasmic tRNAs (P
• PDB: 4WFS, 4WFT, 4XP7, 5OC4, 5OC5, 5OC6, 6EI8, 6EZA, 6EZB, 6EZC, 6F00
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01207	Dus	15 → 342	Dihydrouridine synthase (Dus)	Family
  PF00035	dsrm	370 → 433	Double-stranded RNA binding motif	Domain

• Tissue specificity: TISSUE SPECIFICITY: Weak expression in heart, placenta and skeletal muscle. Up-regulated in most lung cancer cells (at protein level). {ECO:0000269|PubMed:15994936}.
• Sequence:

  MILNSLSLCYHNKLILAPMVRVGTLPMRLLALDYGADIVYCEELIDLKMIQCKRVVNEVL
  STVDFVAPDDRVVFRTCEREQNRVVFQMGTSDAERALAVARLVENDVAGIDVNMGCPKQY
  STKGGMGAALLSDPDKIEKILSTLVKGTRRPVTCKIRILPSLEDTLSLVKRIERTGIAAI
  AVHGRKREERPQHPVSCEVIKAIADTLSIPVIANGGSHDHIQQYSDIEDFRQATAASSVM
  VARAAMWNPSIFLKEGLRPLEEVMQKYIRYAVQYDNHYTNTKYCLCQMLREQLESPQGRL
  LHAAQSSREICEAFGLGAFYEETTQELDAQQARLSAKTSEQTGEPAEDTSGVIKMAVKFD
  RRAYPAQITPKMCLLEWCRREKLAQPVYETVQRPLDRLFSSIVTVAEQKYQSTLWDKSKK
  LAEQAAAIVCLRSQGLPEGRLGEESPSLHKRKREAPDQDPGGPRAQELAQPGDLCKKPFV
  ALGSGEESPLEGW

• Sequence length: 493

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	36551188	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	26143927	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	28562329	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	26143927	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26143927, 36551188	★☆☆☆☆ Found in Text Mining only