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Aliases for DHODH Gene

Aliases for DHODH Gene

  • Dihydroorotate Dehydrogenase (Quinone) 2 3 5
  • Dihydroorotate Oxidase 3 4
  • DHOdehase 3 4
  • Dihydroorotate Dehydrogenase (Quinone), Mitochondrial 3
  • Human Complement Of Yeast URA1 3
  • Dihydroorotate Dehydrogenase 2
  • EC 1.3.3.1 61
  • EC 1.3.5.2 4
  • POADS 3
  • URA1 3

External Ids for DHODH Gene

Previous GeneCards Identifiers for DHODH Gene

  • GC16P062936
  • GC16P072765
  • GC16P071778
  • GC16P071818
  • GC16P070600
  • 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 Miller Syndrome and Acrofacial Dysostosis. Among its related pathways are Purine metabolism (KEGG) and Pyrimidine metabolism. GO annotations related to this gene include drug binding and ubiquinone binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for DHODH Gene

Genomics for DHODH Gene

Regulatory Elements for DHODH Gene

Enhancers for DHODH 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
GH16G072008 1.1 ENCODE 30.1 +0.2 219 1.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF302 DHODH DHX38 HPR CMTR2 PIR31360
GH16G072054 0.9 Ensembl 16.4 +45.9 45913 1.0 FOXA2 MLX ARID4B DMAP1 YY1 SP5 ZHX2 MXD4 MIER2 PPARG DHODH HP HPR PIR51938 GC16M072022
GH16G072092 1.1 ENCODE 13 +85.3 85270 3.0 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 DHX38 DHODH ATXN1L TXNL4B
GH16G072012 1.1 Ensembl ENCODE 11.4 +5.1 5088 2.2 ATF1 TBL1XR1 NFIB ZFP64 SIN3A YY1 TCF12 GATA2 EGR1 FOS TXNL4B HP HPR DHODH DHX38 PIR31360
GH16G072201 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +194.6 194569 2.4 CTCF PKNOX1 JUN MAX MNT EP300 JUND GATA2 IKZF1 ETV6 IST1 AP1G1 DHODH HPR DHX38 ATXN1L LOC105371341 PMFBP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DHODH on UCSC Golden Path with GeneCards custom track

Promoters for DHODH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087699 312 1401 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF302

Genomic Location for DHODH Gene

Chromosome:
16
Start:
72,008,588 bp from pter
End:
72,027,664 bp from pter
Size:
19,077 bases
Orientation:
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:
    Q02127-PYRD_HUMAN
    Recommended name:
    Dihydroorotate dehydrogenase (quinone), mitochondrial
    Protein Accession:
    Q02127
    Secondary Accessions:
    • A8K8C8
    • Q6P176

    Protein attributes for DHODH Gene

    Size:
    395 amino acids
    Molecular mass:
    42867 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • 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

Q02127:
  • VLGHKFRNPVGIAAGFDK
  • INRYGFNS
  • GFGFVEIG
  • GEAVDGLYK
  • NVSSPNT
  • IDGLIVTN
  • PQEGNPRPRVFRLPEDQA
  • VKRELEALLKE
  • LQGALRSE
  • AGASLVQLY
  • LVKIAPDL
  • GGLSGKP

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

Domains & Families for DHODH Gene

Suggested Antigen Peptide Sequences for DHODH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02127

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for DHODH Gene

Function for DHODH Gene

Molecular function for DHODH Gene

GENATLAS Biochemistry:
dihydroorotate dehydrogenase,catalyzing the fourth step of the pyrimidine de novo biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-dihydroorotate + a quinone = orotate + a quinol.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

Enzyme Numbers (IUBMB) for DHODH Gene

Gene Ontology (GO) - Molecular Function for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004152 dihydroorotate dehydrogenase activity TAS --
GO:0008144 drug binding IEA --
GO:0010181 FMN binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors 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:

Animal Model Products

CRISPR Products

miRNA for DHODH Gene

miRTarBase miRNAs that target DHODH

Inhibitory RNA Products

Clone Products

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

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 DHODH gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

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 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 IEA --
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0007565 female pregnancy IEA --
GO:0007595 lactation IEA --
GO:0014070 response to organic cyclic compound IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leflunomide Approved, Investigational Pharma inhibitor, Target AHR agonist,immunosuppressive agent 67
Teriflunomide Approved Pharma inhibitor, Target Multiple sclerosis (MS) oral drug 0
Atovaquone Approved Pharma Target, inhibitor 40
Oxygen Approved, Vet_approved Pharma 0
FAD Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,5-Dihydroorotic acid
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (S)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
155-54-4
L-Dihydroorotic acid
  • (S)-4,5-Dihydroorotate
  • (S)-Dihydroorotate
  • Dihydro-L-orotate
  • Dihydro-L-orotic acid
  • L-Dihydroorotate
5988-19-2

(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

Unigene Clusters for DHODH Gene

Dihydroorotate dehydrogenase (quinone):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for DHODH Gene

GeneLoc Exon Structure for
DHODH
ECgene alternative splicing isoforms for
DHODH

Expression for DHODH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DHODH Gene



Protein tissue co-expression partners for DHODH Gene

NURSA nuclear receptor signaling pathways regulating expression of DHODH Gene:

DHODH

SOURCE GeneReport for Unigene cluster for DHODH Gene:

Hs.654427

Evidence on tissue expression from TISSUES for DHODH Gene

  • Liver(4.6)
  • Skin(4.3)

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

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia DHODH 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia DHODH 34 35
  • 88.02 (n)
cow
(Bos Taurus)
Mammalia DHODH 34 35
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Dhodh 34
  • 85.15 (n)
mouse
(Mus musculus)
Mammalia Dhodh 34 16 35
  • 84.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DHODH 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHODH 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHODH 34 35
  • 68.65 (n)
lizard
(Anolis carolinensis)
Reptilia DHODH 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhodh 34
  • 66.33 (n)
Str.12297 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4872 34
zebrafish
(Danio rerio)
Actinopterygii dhodh 34 35
  • 65.06 (n)
wufc29a01 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002037 34
  • 58.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dhod 36 34 35
  • 53.16 (n)
worm
(Caenorhabditis elegans)
Secernentea dhod-1 34 35
  • 51.52 (n)
W02D3.2 36
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL035C 34
  • 52.17 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09240g 34
  • 50.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA1 35
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PYRD 34
  • 56.04 (n)
rice
(Oryza sativa)
Liliopsida Os04g0676300 34
  • 55.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ura3 34
  • 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 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

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

Paralogs for DHODH Gene

No data available for Paralogs for DHODH Gene

Variants for DHODH Gene

Sequence variations from dbSNP and Humsavar for DHODH Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs201230446 Pathogenic, Postaxial acrofacial dysostosis (POADS) [MIM:263750] 72,014,641(+) TCTTC(C/T)GCCTC reference, missense, utr-variant-5-prime
rs201947120 Pathogenic, Postaxial acrofacial dysostosis (POADS) [MIM:263750] 72,023,536(+) AGATC(C/T)GGGCA reference, missense
rs267606765 Pathogenic, Postaxial acrofacial dysostosis (POADS) [MIM:263750] 72,012,084(+) GGGGG(A/C/G)AGGAG reference, missense, utr-variant-5-prime
rs267606766 Pathogenic, Postaxial acrofacial dysostosis (POADS) [MIM:263750] 72,017,043(+) GTCAC(A/G)GGCTT reference, missense
rs267606767 Pathogenic, Postaxial acrofacial dysostosis (POADS) [MIM:263750], Postaxial acrofacial dysostosis (POADS) [MIM:263750] 72,021,211(+) ACTGG(A/C/G)CCCCC reference, missense

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)

Relevant External Links for DHODH Gene

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

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

Disorders for DHODH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
miller syndrome
  • postaxial acrofacial dysostosis
acrofacial dysostosis
dysostosis
  • dysostoses
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search DHODH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYRD_HUMAN
  • 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.

Relevant External Links for DHODH

Genetic Association Database (GAD)
DHODH
Human Genome Epidemiology (HuGE) Navigator
DHODH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHODH
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 S.B. … Bamshad M.J. (Nat. Genet. 2010) 3 4 22 64
  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 22 46 64
  3. Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis. (PMID: 19605743) Grabar P.B. … Dolzan V. (Ann. Rheum. Dis. 2009) 3 22 46 64
  4. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. (PMID: 10673429) Liu S. … Clardy J. (Structure 2000) 3 4 22 64
  5. Requirements for the mitochondrial import and localization of dihydroorotate dehydrogenase. (PMID: 10727948) Rawls J. … Loeffler M. (Eur. J. Biochem. 2000) 3 4 22 64

Products for DHODH Gene

Sources for DHODH Gene

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