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Aliases for DUS2 Gene

Aliases for DUS2 Gene

  • Dihydrouridine Synthase 2 2 3 4 5
  • TRNA-Dihydrouridine(20) Synthase (NAD(P)(+)) 2 3
  • Up-Regulated In Lung Cancer Protein 8 3 4
  • DUS2L 3 4
  • URLC8 3 4
  • Dihydrouridine Synthase 2-Like, SMM1 Homolog (S. Cerevisiae) 2
  • Dihydrouridine Synthase 2-Like (SMM1, S. Cerevisiae) 2
  • TRNA-Dihydrouridine(20) Synthase [NAD(P)+]-Like 3
  • Dihydrouridine Synthase 2-Like, SMM1 Homolog 3
  • TRNA-Dihydrouridine Synthase 2-Like 4
  • Dihydrouridine Synthase 2-Like 2
  • SMM1 Homolog (S. Cerevisiae) 2
  • SMM1 Homolog 3
  • EC 1.3.1.- 4
  • HDUS2 4
  • SMM1 3

External Ids for DUS2 Gene

Previous HGNC Symbols for DUS2 Gene

  • DUS2L

Summaries for DUS2 Gene

Entrez Gene Summary for DUS2 Gene

  • 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 translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for DUS2 Gene

DUS2 (Dihydrouridine Synthase 2) is a Protein Coding gene. Diseases associated with DUS2 include Kabuki Syndrome 1. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and protein kinase inhibitor activity.

UniProtKB/Swiss-Prot for DUS2 Gene

  • 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.

Additional gene information for DUS2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUS2 Gene

Genomics for DUS2 Gene

GeneHancer (GH) Regulatory Elements for DUS2 Gene

Promoters and enhancers for DUS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I068021 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.3 +35.4 35359 3 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 DDX28 GC16M068022 PIR37774 DUS2 EDC4 NFATC3 CTCF PRMT7 CENPT FHOD1
GH16I067987 Enhancer 1 Ensembl ENCODE 550.8 -0.1 -104 1 ELF3 ZNF493 ZFP64 ARID4B RAD21 ZNF48 ZNF213 KLF7 ZNF680 ZBTB11 DUS2 ZDHHC1 EDC4 CENPT CTCF E2F4 ENKD1 ENSG00000263276 FBXL8 ENSG00000270165
GH16I067892 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.1 -94.0 -94040 2.6 PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZNF48 YY1 POLR2B PSKH1 DUS2 EDC4 PRMT7 C16orf86 ENKD1 DDX28 DPEP3 ACD PARD6A
GH16I068077 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.4 +97.9 97935 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC NFATC3 GC16M068083 PRMT7 CTCF EDC4 TRADD ZDHHC1 DPEP2 DUS2 E2F4
GH16I067942 Promoter/Enhancer 1.6 EPDnew ENCODE dbSUPER 21.3 -43.9 -43927 3.3 HDGF FOXA2 MLX ARID4B SIN3A ZNF48 ETS1 YY1 POLR2B ZNF143 GC16M067943 LCAT DUS2 DPEP3 RNU6-359P PSKH1 C16orf86 ENKD1 NRN1L CENPT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DUS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DUS2 Gene

Genomic Locations for DUS2 Gene
chr16:67,987,746-68,079,323
(GRCh38/hg38)
Size:
91,578 bases
Orientation:
Plus strand
chr16:68,021,649-68,113,223
(GRCh37/hg19)

Genomic View for DUS2 Gene

Genes around DUS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUS2 Gene

Proteins for DUS2 Gene

  • Protein details for DUS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX74-DUS2L_HUMAN
    Recommended name:
    tRNA-dihydrouridine(20) synthase [NAD(P)+]-like
    Protein Accession:
    Q9NX74
    Secondary Accessions:
    • A8K3G3
    • Q4H4D9

    Protein attributes for DUS2 Gene

    Size:
    493 amino acids
    Molecular mass:
    55050 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Interacts with EPRS. Interacts (via DRBM domain) with PRKRA and EIF2AK2/PKR (via DRBM 1 domain).

    Three dimensional structures from OCA and Proteopedia for DUS2 Gene

neXtProt entry for DUS2 Gene

Post-translational modifications for DUS2 Gene

  • Ubiquitination at Lys170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DUS2 Gene

Domains & Families for DUS2 Gene

Gene Families for DUS2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DUS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NX74

UniProtKB/Swiss-Prot:

DUS2L_HUMAN :
  • Belongs to the Dus family. Dus2 subfamily.
Family:
  • Belongs to the Dus family. Dus2 subfamily.
genes like me logo Genes that share domains with DUS2: view

Function for DUS2 Gene

Molecular function for DUS2 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DUS2 Gene

Phenotypes From GWAS Catalog for DUS2 Gene

Gene Ontology (GO) - Molecular Function for DUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003725 double-stranded RNA binding IDA 18096616
GO:0003824 catalytic activity IEA --
GO:0004860 protein kinase inhibitor activity IDA 18096616
GO:0005515 protein binding IPI 18096616
genes like me logo Genes that share ontologies with DUS2: view
genes like me logo Genes that share phenotypes with DUS2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DUS2 Gene

Localization for DUS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUS2 Gene

Cytoplasm. Endoplasmic reticulum. Note=Mainly at the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DUS2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
mitochondrion 3
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DUS2: view

Pathways & Interactions for DUS2 Gene

genes like me logo Genes that share pathways with DUS2: view

Pathways by source for DUS2 Gene

Gene Ontology (GO) - Biological Process for DUS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002943 tRNA dihydrouridine synthesis IEA --
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0008033 tRNA processing IEA --
GO:0055114 oxidation-reduction process IEA --
GO:0060548 negative regulation of cell death IDA 18096616
genes like me logo Genes that share ontologies with DUS2: view

No data available for SIGNOR curated interactions for DUS2 Gene

Drugs & Compounds for DUS2 Gene

(1) Drugs for DUS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0

(1) Additional Compounds for DUS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydrouridine
  • 5,6-Dihydrouridine
  • Dihydro-1-b-D-ribofuranosyl-2,4(1H,3H)-Pyrimidinedione
  • Dihydro-1-beta-delta-ribofuranosyl-2,4(1H,3H)-Pyrimidinedione
  • Dihydrouridine
5627-05-4
genes like me logo Genes that share compounds with DUS2: view

Transcripts for DUS2 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DUS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for DUS2 Gene

GeneLoc Exon Structure for
DUS2
ECgene alternative splicing isoforms for
DUS2

Expression for DUS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DUS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DUS2 Gene

This gene is overexpressed in Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for DUS2 Gene

This gene is overexpressed in Bone marrow stromal cell (31.5), Testis (6.9), and Heart (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DUS2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DUS2 Gene:

DUS2

mRNA Expression by UniProt/SwissProt for DUS2 Gene:

Q9NX74-DUS2L_HUMAN
Tissue specificity: Weak expression in heart, placenta and skeletal muscle. Up-regulated in most lung cancer cells (at protein level).

Evidence on tissue expression from TISSUES for DUS2 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with DUS2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DUS2 Gene

Orthologs for DUS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DUS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DUS2L 33 34
  • 99.59 (n)
mouse
(Mus musculus)
Mammalia Dus2l 34
  • 90 (a)
OneToOne
Dus2 33 16
  • 88.28 (n)
cow
(Bos Taurus)
Mammalia DUS2L 33 34
  • 89.93 (n)
dog
(Canis familiaris)
Mammalia DUS2 33 34
  • 89.86 (n)
rat
(Rattus norvegicus)
Mammalia Dus2 33
  • 87.87 (n)
oppossum
(Monodelphis domestica)
Mammalia DUS2 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DUS2 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves DUS2L 33
  • 68.03 (n)
DUS2 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DUS2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dus2 33
  • 65.94 (n)
Str.3673 33
zebrafish
(Danio rerio)
Actinopterygii dus2 33 34
  • 66.74 (n)
Dr.26415 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000856 33
  • 54.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1434 33 34
  • 54.34 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54E5A.6 33 34
  • 50.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMM1 34 36
  • 34 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G49640 33
  • 54.29 (n)
rice
(Oryza sativa)
Liliopsida Os04g0531300 33
  • 54.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3263 34
  • 53 (a)
OneToOne
Species where no ortholog for DUS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DUS2 Gene

ENSEMBL:
Gene Tree for DUS2 (if available)
TreeFam:
Gene Tree for DUS2 (if available)

Paralogs for DUS2 Gene

No data available for Paralogs for DUS2 Gene

Variants for DUS2 Gene

Sequence variations from dbSNP and Humsavar for DUS2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000021461 -- 68,064,558(+) C/A/T intron_variant
rs1000061433 -- 68,074,901(+) G/T intron_variant
rs1000088000 -- 68,066,011(+) A/G intron_variant
rs1000134505 -- 68,074,675(+) G/A intron_variant
rs1000135250 -- 68,029,207(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DUS2 Gene

Variant ID Type Subtype PubMed ID
esv2659604 CNV deletion 23128226
esv2666619 CNV deletion 23128226
esv3553602 CNV deletion 23714750
esv3638897 CNV loss 21293372
esv3638899 CNV loss 21293372
esv3638900 CNV gain 21293372
esv3638901 CNV loss 21293372
esv3638902 CNV loss 21293372
nsv1131270 CNV deletion 24896259
nsv1845 CNV deletion 18451855
nsv474179 CNV novel sequence insertion 20440878
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680

Variation tolerance for DUS2 Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DUS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DUS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUS2 Gene

Disorders for DUS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DUS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kms
- elite association - COSMIC cancer census association via MalaCards
Search DUS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DUS2

genes like me logo Genes that share disorders with DUS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DUS2 Gene

Publications for DUS2 Gene

  1. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PMID: 15994936) Kato T … Nakamura Y (Cancer research 2005) 2 3 4 22 58
  2. Interaction of human tRNA-dihydrouridine synthase-2 with interferon-induced protein kinase PKR. (PMID: 18096616) Mittelstadt M … Patel RC (Nucleic acids research 2008) 3 4 22 58
  3. Molecular evolution of dihydrouridine synthases. (PMID: 22741570) Kasprzak JM … Bujnicki JM (BMC bioinformatics 2012) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DUS2 Gene

Sources for DUS2 Gene

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