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Aliases for DPYD Gene

Aliases for DPYD Gene

  • Dihydropyrimidine Dehydrogenase 2 3 5
  • Dihydrothymine Dehydrogenase 3 4
  • Dihydrouracil Dehydrogenase 3 4
  • EC 4 61
  • DHPDHASE 3 4
  • DPD 3 4
  • Dihydropyrimidine Dehydrogenase [NADP(+)] 3
  • DHP 3

External Ids for DPYD Gene

Previous GeneCards Identifiers for DPYD Gene

  • GC01M097839
  • GC01M096644
  • GC01M096828
  • GC01M097255
  • GC01M097543
  • GC01M095664

Summaries for DPYD Gene

Entrez Gene Summary for DPYD Gene

  • The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneCards Summary for DPYD Gene

DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include Dihydropyrimidine Dehydrogenase Deficiency and Dpyd-Related Altered Drug Metabolism. Among its related pathways are Metabolism and Purine metabolism (KEGG). GO annotations related to this gene include protein homodimerization activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for DPYD Gene

  • Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

Gene Wiki entry for DPYD Gene

PharmGKB "VIP" Summary for DPYD Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for DPYD Gene

Genomics for DPYD Gene

Regulatory Elements for DPYD Gene

Enhancers for DPYD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F097942 1.4 FANTOM5 Ensembl ENCODE 11.8 -22.4 -22375 1.3 JUND MTA2 SIN3A REST TBX21 RAD21 DPYD ENSG00000269998 GC01M097921
GH01F097947 0.5 Ensembl 11.7 -26.9 -26912 0.5 HLF DPYD GC01M097921 ENSG00000269998
GH01F097824 0.2 ENCODE 11.6 +96.2 96223 0.9 SMARCA4 HLF DPYD GC01P097840 DPYD-AS2
GH01F097886 0.7 Ensembl 11.4 +34.6 34559 0.2 DPYD LOC100419654
GH01F097894 0.6 Ensembl 11.2 +26.9 26859 0.4 DPYD LOC100419654
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DPYD on UCSC Golden Path with GeneCards custom track

Promoters for DPYD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000541522 859 3601 TBP ARID4B SIN3A BRCA1 RAD21 YY1 GLIS2 EGR1 ZNF366 CBX5

Genomic Location for DPYD Gene

97,077,743 bp from pter
97,921,059 bp from pter
843,317 bases
Minus strand

Genomic View for DPYD Gene

Genes around DPYD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DPYD Gene

Proteins for DPYD Gene

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

    Protein Symbol:
    Recommended name:
    Dihydropyrimidine dehydrogenase [NADP(+)]
    Protein Accession:
    Secondary Accessions:
    • A2RRQ2
    • A2RRQ3
    • A8K5A2
    • A8MWG9
    • B1AN21
    • E9PFN1
    • Q16694
    • Q16761
    • Q32NB0
    • Q96HL6
    • Q96TH1

    Protein attributes for DPYD Gene

    1025 amino acids
    Molecular mass:
    111401 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for DPYD Gene


neXtProt entry for DPYD Gene

Selected DME Specific Peptides for DPYD Gene


Post-translational modifications for DPYD Gene

  • Ubiquitination at Lys 89, Lys 107, Lys 709, Lys 725, and Lys 908
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DPYD (DPYD)

Domains & Families for DPYD Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 4Fe-4S ferredoxin-type domains.
  • Belongs to the dihydropyrimidine dehydrogenase family.
  • Contains 3 4Fe-4S ferredoxin-type domains.
  • Belongs to the dihydropyrimidine dehydrogenase family.
genes like me logo Genes that share domains with DPYD: view

No data available for Gene Families for DPYD Gene

Function for DPYD Gene

Molecular function for DPYD Gene

GENATLAS Biochemistry:
dihydropyrimidine dehydrogenase,pyrimidine catabolic pathway,pyrimidine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
5,6-dihydrouracil + NADP(+) = uracil + NADPH.
UniProtKB/Swiss-Prot Function:
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

Enzyme Numbers (IUBMB) for DPYD Gene

Gene Ontology (GO) - Molecular Function for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0017113 dihydropyrimidine dehydrogenase (NADP+) activity TAS --
genes like me logo Genes that share ontologies with DPYD: view
genes like me logo Genes that share phenotypes with DPYD: view

Human Phenotype Ontology for DPYD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPYD Gene

MGI Knock Outs for DPYD:
  • Dpyd tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for DPYD

miRNA for DPYD Gene

miRTarBase miRNAs that target DPYD

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DPYD Gene

Localization for DPYD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPYD Gene


Subcellular locations from

Jensen Localization Image for DPYD Gene COMPARTMENTS Subcellular localization image for DPYD gene
Compartment Confidence
cytosol 5
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 1512248
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPYD: view

Pathways & Interactions for DPYD Gene

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

Pathways by source for DPYD Gene

UniProtKB/Swiss-Prot Q12882-DPYD_HUMAN

  • Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis.

Gene Ontology (GO) - Biological Process for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006145 purine nucleobase catabolic process IMP 11988088
GO:0006208 pyrimidine nucleobase catabolic process ISS --
GO:0006210 thymine catabolic process IDA 10410956
GO:0006212 uracil catabolic process IDA 1512248
GO:0006214 thymidine catabolic process IDA 1512248
genes like me logo Genes that share ontologies with DPYD: view

No data available for SIGNOR curated interactions for DPYD Gene

Drugs & Compounds for DPYD Gene

(53) Drugs for DPYD Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1296
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1791
FAD Approved Pharma Target 0
Tegafur Approved Pharma 90
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0

(50) Additional Compounds for DPYD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5,6-Dihydro-2,4(1H,3H)-pyrimidinedione
  • 5,6-Dihydro-2,4-dihydroxypyrimidine
  • 5,6-Dihydrouracil
  • Dihydro-2,4(1H,3H)-pyrimidinedione
  • Dihydro-pyrimidine-2,4-dione
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
  • 5,6-Dihydro-5-methyluracil
  • 5,6-Dihydrothymine
  • 5-Methyl-5,6-dihydrouracil
  • 5-Methyl-Hydrouracil
  • 5-Methyldihydropyrimidine-2,4(1H,3H)-dione
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite

(1) ApexBio Compounds for DPYD Gene

Compound Action Cas Number
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
genes like me logo Genes that share compounds with DPYD: view

Transcripts for DPYD Gene

Unigene Clusters for DPYD Gene

Dihydropyrimidine dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DPYD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DPYD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for DPYD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1) and Testis (9.2).

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

Protein tissue co-expression partners for DPYD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DPYD Gene:


SOURCE GeneReport for Unigene cluster for DPYD Gene:


mRNA Expression by UniProt/SwissProt for DPYD Gene:

Tissue specificity: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
genes like me logo Genes that share expression patterns with DPYD: view

Primer Products

Orthologs for DPYD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DPYD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DPYD 34 35
  • 99.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
-- 35
  • 88 (a)
-- 35
  • 85 (a)
(Canis familiaris)
Mammalia DPYD 34 35
  • 92.5 (n)
(Bos Taurus)
Mammalia DPYD 34 35
  • 91.41 (n)
(Monodelphis domestica)
Mammalia DPYD 35
  • 88 (a)
(Mus musculus)
Mammalia Dpyd 34 16 35
  • 86.15 (n)
(Rattus norvegicus)
Mammalia Dpyd 34
  • 85.59 (n)
(Gallus gallus)
Aves DPYD 34 35
  • 80.68 (n)
(Anolis carolinensis)
Reptilia DPYD 35
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dpyd 34
  • 76.1 (n)
Str.17288 34
(Danio rerio)
Actinopterygii DPYD (3 of 5) 35
  • 92 (a)
CR855273.1 35
  • 80 (a)
dpyda 35
  • 80 (a)
DPYD (4 of 5) 35
  • 71 (a)
dpydb 34 35
  • 69.02 (n)
Dr.19758 34
fruit fly
(Drosophila melanogaster)
Insecta Reg-3 36
  • 61 (a)
su(r) 34 35
  • 60.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001021 34
  • 58.66 (n)
(Caenorhabditis elegans)
Secernentea C25F6.3 36
  • 65 (a)
dpyd-1 34 35
  • 63.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLT1 35 37
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 69 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6926 34
Species where no ortholog for DPYD 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPYD Gene

Gene Tree for DPYD (if available)
Gene Tree for DPYD (if available)

Paralogs for DPYD Gene

No data available for Paralogs for DPYD Gene

Variants for DPYD Gene

Sequence variations from dbSNP and Humsavar for DPYD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1801265 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270], Pathogenic 97,883,329(-) CTCTG(C/T)GTTCC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1801266 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270] 97,691,776(-) AGTTC(C/T)GGCTG reference, missense
rs1801267 Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270], Pathogenic 97,098,598(-) ACAGC(A/G)CAAGA intron-variant, reference, missense
rs2297595 drug-response 97,699,535(+) ACTCA(C/T)TGCTT nc-transcript-variant, reference, missense
rs67376798 drug-response 97,082,391(+) CTTCA(A/T)CAATC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv33e214 CNV loss 21293372
dgv376n54 CNV loss 21841781
dgv377n54 CNV loss 21841781
dgv9n21 CNV gain 19592680
esv2167618 CNV deletion 18987734
esv2523572 CNV deletion 19546169
esv2667527 CNV deletion 23128226
esv2673743 CNV deletion 23128226
esv2715174 CNV deletion 23290073
esv2715185 CNV deletion 23290073
esv2715196 CNV deletion 23290073
esv2715207 CNV deletion 23290073
esv2715218 CNV deletion 23290073
esv3304677 CNV mobile element insertion 20981092
esv3307080 CNV mobile element insertion 20981092
esv3347076 CNV insertion 20981092
esv3347093 CNV insertion 20981092
esv3384589 CNV insertion 20981092
esv3422699 CNV insertion 20981092
esv3434662 CNV insertion 20981092
esv3450982 CNV insertion 20981092
esv3578017 CNV loss 25503493
esv3578018 CNV loss 25503493
esv3586876 CNV loss 21293372
esv3586880 CNV loss 21293372
esv3586884 CNV gain 21293372
esv3586886 CNV loss 21293372
esv3586888 CNV loss 21293372
esv3586889 CNV loss 21293372
esv3586891 CNV loss 21293372
esv8104 CNV gain 19470904
nsv1116607 CNV tandem duplication 24896259
nsv1129132 CNV insertion 24896259
nsv1145354 CNV deletion 24896259
nsv1148063 CNV deletion 26484159
nsv1149005 CNV insertion 26484159
nsv160842 CNV deletion 16902084
nsv1988 CNV insertion 18451855
nsv1999 CNV insertion 18451855
nsv2010 CNV deletion 18451855
nsv2021 CNV insertion 18451855
nsv2032 CNV deletion 18451855
nsv462572 CNV loss 19166990
nsv470728 CNV loss 18288195
nsv476745 CNV novel sequence insertion 20440878
nsv477206 CNV novel sequence insertion 20440878
nsv477329 CNV novel sequence insertion 20440878
nsv519191 CNV loss 19592680
nsv528034 CNV gain 19592680
nsv546861 CNV loss 21841781
nsv546862 CNV loss 21841781
nsv546863 CNV loss 21841781
nsv546864 CNV loss 21841781
nsv546865 CNV loss 21841781
nsv546866 CNV loss 21841781
nsv546867 CNV loss 21841781
nsv546868 CNV loss 21841781
nsv830692 CNV gain+loss 17160897
nsv830703 CNV gain+loss 17160897
nsv830714 CNV gain 17160897
nsv830725 CNV loss 17160897

Variation tolerance for DPYD Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.23; 84.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPYD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DPYD Gene

MalaCards: The human disease database

(22) MalaCards diseases for DPYD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dihydropyrimidine dehydrogenase deficiency
  • 5-fluorouracil toxicity
dpyd-related altered drug metabolism
  • 5-fluorouracil toxicity
herpes zoster
  • herpes zona
1p21.3 microdeletion syndrome
  • del(1)p(21.3)
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search DPYD in MalaCards View complete list of genes associated with diseases


  • Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. {ECO:0000269 PubMed:14702039, ECO:0000269 PubMed:16710414, ECO:0000269 PubMed:9266349, ECO:0000269 PubMed:9439663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DPYD Gene

thymine-uraciluria,with convulsive disorders of variable clinical expression,motor and mental retardation,mild or quite severe,hereditary and sensitivity to fluorouracyl in heterozygotes

Relevant External Links for DPYD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DPYD: view

Publications for DPYD Gene

  1. Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. (PMID: 20507294) CeriA8 T. … CeriA8 S. (Bosn J Basic Med Sci 2010) 3 22 46 64
  2. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). (PMID: 19296131) van Kuilenburg A.B. … Rubio-Gozalbo M.E. (Hum. Genet. 2009) 3 22 46 64
  3. Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity. (PMID: 19288105) Ticha I. … Kleibl Z. (Cancer Chemother. Pharmacol. 2009) 3 22 46 64
  4. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. (PMID: 19530960) Amstutz U. … LargiadA"r C.R. (Pharmacogenomics 2009) 3 22 46 64
  5. TPMT and DPD polymorphisms: Efficient screening method for Indian patients considering taking Thiopurine and 5-FU drugs. (PMID: 20037211) Ashavaid T.F. … Desai D. (Dis. Markers 2009) 3 22 46 64

Products for DPYD Gene

Sources for DPYD Gene

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