DUS2

dihydrouridine synthase 2

Basic information

Region (hg38): 16:67987746-68079320

Previous symbols: [ "DUS2L" ]

Links

ENSG00000167264 ∙ NCBI:54920 ∙ OMIM:609707 ∙ HGNC:26014 ∙ Uniprot:Q9NX74 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUS2 gene.

• not_specified (61 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUS2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017803.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			61			61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUS2	protein_coding	protein_coding	ENST00000565263	15	91575

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.79e-11	0.922	125677	0	71	125748	0.000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.605	261	290	0.900	0.0000163	3180
Missense in Polyphen		71	94.876	0.74834		967
Synonymous	1.40	88	106	0.828	0.00000557	987
Loss of Function	1.99	22	34.6	0.636	0.00000214	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000666	0.000666
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000299	0.000299
Middle Eastern	0.000272	0.000272
South Asian	0.000458	0.000457
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dihydrouridine synthase. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Negatively regulates the activation of EIF2AK2/PKR. {ECO:0000269|PubMed:15994936, ECO:0000269|PubMed:18096616}.
• Pathway: tRNA modification in the nucleus and cytosol;tRNA processing;Metabolism of RNA (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.85

Haploinsufficiency Scores

• pHI: 0.0835
• hipred: Y
• hipred_score: 0.663
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dus2

Gene ontology

• Biological process: tRNA dihydrouridine synthesis;negative regulation of protein kinase activity;oxidation-reduction process;negative regulation of cell death
• Cellular component: endoplasmic reticulum;cytosol
• Molecular function: double-stranded RNA binding;protein kinase inhibitor activity;protein binding;tRNA dihydrouridine synthase activity;flavin adenine dinucleotide binding