The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] See more...

Aliases for DHODH Gene

Aliases for DHODH Gene

  • Dihydroorotate Dehydrogenase (Quinone) 2 3 5
  • Dihydroorotate Dehydrogenase (Quinone), Mitochondrial 3 4
  • Dihydroorotate Oxidase 3 4
  • DHOdehase 3 4
  • Human Complement Of Yeast URA1 3
  • Dihydroorotate Dehydrogenase 2
  • EC 51
  • EC 4
  • POADS 3
  • DHODH 5
  • URA1 3

External Ids for DHODH Gene

Previous GeneCards Identifiers for DHODH Gene

  • GC16P062936
  • GC16P072765
  • GC16P071778
  • GC16P071818
  • GC16P070600
  • GC16P072042
  • GC16P057809

Summaries for DHODH Gene

Entrez Gene Summary for DHODH Gene

  • The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

GeneCards Summary for DHODH Gene

DHODH (Dihydroorotate Dehydrogenase (Quinone)) is a Protein Coding gene. Diseases associated with DHODH include Postaxial Acrofacial Dysostosis and Acrofacial Dysostosis. Among its related pathways are Metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include drug binding and ubiquinone binding. An important paralog of this gene is DPYD.

UniProtKB/Swiss-Prot Summary for DHODH Gene

  • Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHODH Gene

Genomics for DHODH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHODH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J072008 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 630.1 +0.4 413 2 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST TFE3 LEF1 NFKBIZ POLR2A DHODH DHX38 HYDIN PHLPP2 IST1 CMTR2 ENSG00000247324 HPR ZNF19 AP1G1
GH16J072092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.7 +85.2 85213 3.6 SP1 CREB1 GATAD2A PRDM10 REST TFE3 RFX1 SIX5 IKZF1 ZNF692 DHX38 TXNL4B DHODH ATXN1L IST1 AP1G1 HP CMTR2
GH16J072012 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 11.4 +5.1 5108 2.2 PRDM10 IKZF1 ZNF692 GABPA ZIC2 EP300 MGA ZBTB20 HMBOX1 EGR1 PKD1L3 TXNL4B HP HPR DHODH DHX38 piR-30361
GH16J072001 Enhancer 0.6 Ensembl 27 -6.4 -6387 1.2 PRDM10 RXRB CEBPA SCRT2 SCRT1 ATF4 NFIL3 THRB CEBPG SP5 PKD1L3 DHODH HPR ENSG00000263311
GH16J072063 Promoter/Enhancer 1.1 EPDnew Ensembl 11 +54.0 54013 2 GATAD2A ATF7 TFE3 RCOR2 RBFOX2 RXRB IRF2 SP1 CEBPA FOXK2 HPR TXNL4B DHX38 DHODH MF281447 HP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHODH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHODH

Top Transcription factor binding sites by QIAGEN in the DHODH gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CUTL1
  • Evi-1
  • GATA-2
  • NF-kappaB
  • NF-kappaB1
  • p300
  • POU3F2

Genomic Locations for DHODH Gene

Genomic Locations for DHODH Gene
19,077 bases
Plus strand
16,469 bases
Plus strand

Genomic View for DHODH Gene

Genes around DHODH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DHODH Gene

Proteins for DHODH Gene

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

    Protein Symbol:
    Recommended name:
    Dihydroorotate dehydrogenase (quinone), mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K8C8
    • Q6P176

    Protein attributes for DHODH Gene

    395 amino acids
    Molecular mass:
    42867 Da
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Monomer.
    • The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare Mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome.

    Three dimensional structures from OCA and Proteopedia for DHODH Gene

neXtProt entry for DHODH Gene

Selected DME Specific Peptides for DHODH Gene


Post-translational modifications for DHODH Gene

  • The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for DHODH
  • Boster Bio Antibodies for DHODH

Domains & Families for DHODH Gene

Gene Families for DHODH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DHODH Gene

  • Dihydroorotate dehydrogenase

Suggested Antigen Peptide Sequences for DHODH Gene

GenScript: Design optimal peptide antigens:
  • Dihydroorotate oxidase (PYRD_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
  • Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
genes like me logo Genes that share domains with DHODH: view

Function for DHODH Gene

Molecular function for DHODH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-dihydroorotate + a quinone = a quinol + orotate; Xref=Rhea:RHEA:30187, ChEBI:CHEBI:24646, ChEBI:CHEBI:30839, ChEBI:CHEBI:30864, ChEBI:CHEBI:132124; EC=; Evidence={ECO:0000269|PubMed:8925840};.
GENATLAS Biochemistry:
dihydroorotate dehydrogenase,catalyzing the fourth step of the pyrimidine de novo biosynthesis

Enzyme Numbers (IUBMB) for DHODH Gene

Phenotypes From GWAS Catalog for DHODH Gene

Gene Ontology (GO) - Molecular Function for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004152 dihydroorotate dehydrogenase activity IBA 21873635
GO:0008144 drug binding IEA --
GO:0010181 FMN binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with DHODH: view
genes like me logo Genes that share phenotypes with DHODH: view

Human Phenotype Ontology for DHODH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHODH Gene

MGI Knock Outs for DHODH:
  • Dhodh Dhodh<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DHODH Gene

miRTarBase miRNAs that target DHODH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHODH

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

Localization for DHODH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHODH Gene

Mitochondrion inner membrane. Single-pass membrane protein.

Subcellular locations from

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 DHODH gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DHODH: view

Pathways & Interactions for DHODH Gene

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

Pathways by source for DHODH Gene

UniProtKB/Swiss-Prot Q02127-PYRD_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.

Gene Ontology (GO) - Biological Process for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process IBA 21873635
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0007565 female pregnancy IEA --
GO:0007595 lactation IEA --
GO:0009220 pyrimidine ribonucleotide biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with DHODH: view

No data available for SIGNOR curated interactions for DHODH Gene

Drugs & Compounds for DHODH Gene

(48) Drugs for DHODH Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leflunomide Approved, Investigational Pharma Target, inhibitor AHR agonist,immunosuppressive agent 91
Teriflunomide Approved Pharma Target, inhibitor Multiple sclerosis (MS) oral drug 0
Atovaquone Approved Pharma Target, inhibitor 49
Flavin Mononucleotide Approved, Investigational Pharma Target 12
Oxygen Approved, Vet_approved Pharma 0

(22) Additional Compounds for DHODH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,5-Dihydroorotic acid
  • 5,6-dihydro-Orotic acid
  • DL-Dihydroortotic acid
  • Hydroorotic acid
  • 5,6-dihydro-Orotate
  • 4,5-Dihydroorotate
L-Dihydroorotic acid
  • (S)-4,5-Dihydroorotic acid
  • dihydro-L-Orotic acid
  • (S)-4,5-Dihydroorotate
  • L-Dihydroorotate
  • dihydro-L-Orotate

(2) ApexBio Compounds for DHODH Gene

Compound Action Cas Number
Teriflunomide Multiple sclerosis (MS) oral drug 108605-62-5
Vidofludimus DHODH inhibitor 717824-30-1
genes like me logo Genes that share compounds with DHODH: view

Drug Products

Transcripts for DHODH Gene

mRNA/cDNA for DHODH Gene

10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHODH

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

No ASD Table

Relevant External Links for DHODH Gene

GeneLoc Exon Structure for

Expression for DHODH Gene

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

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

This gene is overexpressed in Liver (x20.2).

Protein differential expression in normal tissues from HIPED for DHODH Gene

This gene is overexpressed in Nasal epithelium (61.9).

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

Protein tissue co-expression partners for DHODH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHODH

SOURCE GeneReport for Unigene cluster for DHODH Gene:


Evidence on tissue expression from TISSUES for DHODH Gene

  • Liver(4.7)
  • Skin(4.5)
  • Nervous system(2.9)
  • Blood(2.6)
  • Kidney(2.6)
  • Heart(2.4)
  • Muscle(2.3)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHODH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • breast
  • chest wall
  • rib
  • rib cage
  • sternum
  • intestine
  • kidney
  • small intestine
  • stomach
  • pelvis
  • penis
  • testicle
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • lower limb
  • radius
  • thigh
  • toe
  • ulna
  • upper limb
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DHODH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DHODH Gene

Orthologs for DHODH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHODH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DHODH 30 31
  • 99.24 (n)
(Canis familiaris)
Mammalia DHODH 30 31
  • 88.02 (n)
(Bos Taurus)
Mammalia DHODH 30 31
  • 87.76 (n)
(Rattus norvegicus)
Mammalia Dhodh 30
  • 85.15 (n)
(Mus musculus)
Mammalia Dhodh 30 17 31
  • 84.81 (n)
(Ornithorhynchus anatinus)
Mammalia DHODH 31
  • 83 (a)
(Monodelphis domestica)
Mammalia DHODH 31
  • 81 (a)
(Gallus gallus)
Aves DHODH 30 31
  • 68.65 (n)
(Anolis carolinensis)
Reptilia DHODH 31
  • 73 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhodh 30
  • 66.33 (n)
Str.12297 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4872 30
(Danio rerio)
Actinopterygii dhodh 30 31
  • 65.06 (n)
wufc29a01 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002037 30
  • 58.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dhod 30 31 32
  • 53.16 (n)
(Caenorhabditis elegans)
Secernentea dhod-1 30 31
  • 51.52 (n)
W02D3.2 32
  • 51 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACL035C 30
  • 52.17 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09240g 30
  • 50.7 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA1 31
  • 23 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PYRD 30
  • 56.04 (n)
(Oryza sativa)
Liliopsida Os04g0676300 30
  • 55.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ura3 30
  • 50.55 (n)
Species where no ortholog for DHODH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Vase (Ciona intestinalis)
  • 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 DHODH Gene

Gene Tree for DHODH (if available)
Gene Tree for DHODH (if available)
Evolutionary constrained regions (ECRs) for DHODH: view image

Paralogs for DHODH Gene

Paralogs for DHODH Gene

genes like me logo Genes that share paralogs with DHODH: view

Variants for DHODH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHODH Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
16807 Pathogenic: Miller syndrome 72,021,216(+) CT/C FRAMESHIFT_VARIANT
713428 Likely Benign: not provided 72,012,118(+) C/A SYNONYMOUS_VARIANT
718632 Likely Benign: Miller syndrome; not provided 72,022,421(+) C/T SYNONYMOUS_VARIANT
733670 Likely Benign: not provided 72,021,147(+) T/C SYNONYMOUS_VARIANT
742137 Likely Benign: not provided 72,024,160(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHODH Gene

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

Variant ID Type Subtype PubMed ID
esv2714683 CNV deletion 23290073
esv2758654 CNV gain 17122850
esv3582296 CNV loss 25503493
nsv1055854 CNV loss 25217958
nsv428329 CNV gain 18775914
nsv7285 OTHER inversion 18451855
nsv833273 CNV loss 17160897

Variation tolerance for DHODH Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHODH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DHODH Gene

MalaCards: The human disease database

(11) MalaCards diseases for DHODH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
postaxial acrofacial dysostosis
  • poads
acrofacial dysostosis
  • dysostoses
  • malaria, susceptibility to
pyrimidine metabolic disorder
  • disorder of pyrimidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search DHODH in MalaCards View complete list of genes associated with diseases


  • Postaxial acrofacial dysostosis (POADS) [MIM:263750]: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. {ECO:0000269 PubMed:19915526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHODH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DHODH: view

No data available for Genatlas for DHODH Gene

Publications for DHODH Gene

  1. Exome sequencing identifies the cause of a mendelian disorder. (PMID: 19915526) Ng SB … Bamshad MJ (Nature genetics 2010) 3 4 23
  2. The effect of exon (19C>A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide. (PMID: 19207032) Pawlik A … Drozdzik M (Pharmacogenomics 2009) 3 23 41
  3. Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis. (PMID: 19605743) Grabar PB … Dolzan V (Annals of the rheumatic diseases 2009) 3 23 41
  4. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. (PMID: 10673429) Liu S … Clardy J (Structure (London, England : 1993) 2000) 3 4 23
  5. Requirements for the mitochondrial import and localization of dihydroorotate dehydrogenase. (PMID: 10727948) Rawls J … Löffler M (European journal of biochemistry 2000) 3 4 23

Products for DHODH Gene

Sources for DHODH Gene