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DHODH Gene

protein-coding   GIFtS: 64
GCID: GC16P072042

Dihydroorotate Dehydrogenase (Quinone)

(Previous name: dihydroorotate dehydrogenase)
  See DHODH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dihydroorotate Dehydrogenase (Quinone)1 2     Dihydroorotate Dehydrogenase1
Dihydroorotate Oxidase2 3     Dihydroorotate Dehydrogenase (Quinone), Mitochondrial2
DHOdehase2 3     Human Complement Of Yeast URA12
POADS2 5     EC 1.3.5.23
URA12 5     EC 1.3.3.18

External Ids:    HGNC: 28671   Entrez Gene: 17232   Ensembl: ENSG000001029677   OMIM: 1260645   UniProtKB: Q021273   

Export aliases for DHODH gene to outside databases

Previous GC identifers: GC16P062936 GC16P072765 GC16P071778 GC16P071818 GC16P070600 GC16P057809


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chagas disease. GO annotations related to this gene include drug binding and ubiquinone binding.

UniProtKB/Swiss-Prot: PYRD_HUMAN, Q02127
Function: Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHODH gene promoter:
         AhR   AML1a   p300   CUTL1   NF-kappaB   POU3F2   Evi-1   Arnt   GATA-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHODH promoter sequence
   Search Chromatin IP Primers for DHODH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHODH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.2

DHODH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHODH gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P072042:  view genomic region     (about GC identifiers)

Start:
72,042,487 bp from pter      End:
72,058,955 bp from pter
Size:
16,469 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PYRD_HUMAN, Q02127 (See protein sequence)
Recommended Name: Dihydroorotate dehydrogenase (quinone), mitochondrial precursor  
Size: 395 amino acids; 42867 Da
Cofactor: Binds 1 FMN per subunit
Subunit: 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
Selected PDB 3D structures from and Proteopedia for DHODH (see all 25):
1D3G (3D)        1D3H (3D)        2B0M (3D)        2BXV (3D)        2FPT (3D)        2FPV (3D)    
Secondary accessions: A8K8C8 Q6P176

Explore the universe of human proteins at neXtProt for DHODH: NX_Q02127

Explore proteomics data for DHODH at MOPED

Post-translational modifications: 

  • The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHODH (Q02127) (see all 12)
     NVSSPNT  GGLSGKP  LVKIAPDL  IDGLIVTN 


    See DHODH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001352.2  
    ENSEMBL proteins: 
     ENSP00000461848   ENSP00000460966   ENSP00000464249   ENSP00000464333   ENSP00000219240  
    Reactome Protein details: Q02127

    DHODH Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DHODH

     
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    antibodies-online proteins for DHODH (54 products) 

     
    antibodies-online peptides for DHODH

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    antibodies-online antibodies for DHODH (48 products) 

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    antibodies-online kits for DHODH (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001295 Dihydroorotate_DH_CS
     IPR013785 Aldolase_TIM
     IPR005719 Dihydroorotate_DH_2
     IPR012135 Dihydroorotate_DH_1_2

    Graphical View of Domain Structure for InterPro Entry Q02127

    ProtoNet protein and cluster: Q02127

    1 Blocks protein domain: IPB001295 Dihydroorotate dehydrogenase

    UniProtKB/Swiss-Prot: PYRD_HUMAN, Q02127
    Similarity: Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily


    Find genes that share domains with DHODH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYRD_HUMAN, Q02127
    Function: Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor
    Catalytic activity: (S)-dihydroorotate + a quinone = orotate + a quinol

         Genatlas biochemistry entry for DHODH:
    dihydroorotate dehydrogenase,catalyzing the fourth step of the pyrimidine de novo biosynthesis

         Enzyme Numbers (IUBMB): EC 1.3.3.12 EC 1.3.5.21

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004152dihydroorotate dehydrogenase activity TAS--
    GO:0004158dihydroorotate oxidase activity IEA--
    GO:0008144drug binding IEA--
    GO:0010181FMN binding IEA--
    GO:0048039ubiquinone binding IEA--
         
    Find genes that share ontologies with DHODH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DHODH:
     Increased cell number in G2M,  

         1 MGI phenotypic allele for Dhodh (no phenotypes)

    Find genes that share phenotypes with DHODH           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DHODH

    miRNA
    Products:
        
    miRTarBase miRNAs that target DHODH:
    hsa-mir-615-3p (MIRT039774), hsa-mir-26b-5p (MIRT029671)

    Block miRNA regulation of human, mouse, rat DHODH using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DHODH:
    hsa-miR-587 hsa-miR-135b hsa-miR-502-5p hsa-miR-525-5p hsa-miR-186 hsa-miR-3119 hsa-miR-520a-5p hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmidDHODH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHODH

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHODH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHODH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PYRD_HUMAN, Q02127: Mitochondrion inner membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    endoplasmic reticulum1
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0043025neuronal cell body IEA--

    Find genes that share ontologies with DHODH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DHODH About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Pyrimidine metabolism
    Pyrimidine metabolism0.33
    Pyrimidine biosynthesis0.00
    3Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    4Purine metabolism (KEGG)
    Pyrimidine metabolism0.38


    Find genes that share SuperPaths with DHODH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DHODH
        Pyrimidine biosynthesis


    2 Kegg Pathways  (Kegg details for DHODH):
        Pyrimidine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PYRD_HUMAN, Q02127
    Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone
    route): step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHODH
    Interactions:

        Search GeneGlobe Interaction Network for DHODH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for DHODH (Q021273 ENSP000002192404) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK10P537793I2D: score=4 
    CADENSP000002647054STRING: ENSP00000264705
    UMPSENSP000002326074STRING: ENSP00000232607
    SLC25A10ENSP000003455804STRING: ENSP00000345580
    SLC25A11ENSP000002256654STRING: ENSP00000225665
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006207'de novo' pyrimidine nucleobase biosynthetic process IEA--
    GO:0006222UMP biosynthetic process ----
    GO:0007565female pregnancy IEA--
    GO:0007595lactation IEA--

    Find genes that share ontologies with DHODH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for DHODH
      Browse compounds at ApexBio 

    Browse Tocris compounds for DHODH (PYRD)

    7 HMDB Compounds for DHODH    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,5-Dihydroorotic acid(+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate (see all 12)155-54-4--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    L-Dihydroorotic acid(S)-4,5-Dihydroorotate (see all 6)5988-19-2--
    Orotic aciduracil-6-carboxylate (see all 32)65-86-1--
    OxygenOxygen (see all 5)7782-44-7--

    Selected DrugBank Compounds for DHODH (see all 25)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LeflunomideLeflunomidum [INN-Latin] (see all 2)75706-12-6targetinhibitor10651393 11053058 12003373 10878295 12063741 15189743 11752352 10890256 9666414 17604599 1060033 10878294
    Atovaquone-- 95233-18-4targetinhibitor9425362 10658902 7909690 11752352 15044733 7726490
    6-Fluoro-2-(2'-Fluoro-1,1'-Biphenyl-4-Yl)-3-Methylquinoline-4-Carboxylic Acid-- --target--17139284 17016423 10592235
    Antiproliferative Agent A771726-- --target--17139284 17016423 10592235
    Decylamine-N,N-Dimethyl-N-Oxide-- --target--17139284 17016423 10592235
    Orotic Acid-- 65-86-1target--17139284 17016423 10592235
    Riboflavin Monophosphate-- 146-17-8target--17139284 17016423 10592235
    Brequinar Analog-- --target--17139284 17016423
    TeriflunomideA-771726 (see all 2)163451-81-8targetinhibitor8573583 21157651
    (2Z)-2-cyano-N-(2,2'-dichlorobiphenyl-4-yl)-3-hydroxybut-2-enamide-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for DHODH gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydroorotate 99.3 280 8852433 (7), 8925840 (6), 9179295 (6), 9802339 (5) (see all 99)
    brequinar sodium 96.1 32 2386542 (3), 8687451 (3), 11329288 (3), 9802339 (2) (see all 14)
    dichloroallyllawsone 95.8 6 12213251 (2), 12189151 (1), 7741767 (1)
    redoxal 95.1 9 10664450 (2), 12213251 (2), 11248707 (1), 12189151 (1) (see all 5)
    leflunomide 91.3 47 16120318 (3), 18031184 (2), 10600330 (2), 7575649 (2) (see all 25)
    quinoline-4-carboxylic acid 90.7 1 9802339 (1)
    pyrimidine 88.8 52 18312275 (2), 7473131 (1), 9815796 (1), 9504336 (1) (see all 35)
    orotic acid 88.5 21 10889450 (2), 11329288 (2), 17123468 (1), 2306795 (1) (see all 14)
    isoxazol 88 1 9802339 (1)
    decylubiquinone 83.1 1 9802339 (1)

    1 PharmGKB related drug/compound annotation for DHODH gene    About this table
    Drug/compound PharmGKB Annotation
    leflunomideCA  



    Find genes that share compounds with DHODH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DHODH gene (2 alternative transcripts): 
    NM_001361.4  NM_001025193.1  

    Unigene Cluster for DHODH:

    Dihydroorotate dehydrogenase (quinone)
    Hs.654427  [show with all ESTs]
    Unigene Representative Sequence: NM_001361
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000572887 ENST00000574309 ENST00000571288 ENST00000576145 ENST00000573922
    ENST00000572003 ENST00000573843 ENST00000571392 ENST00000219240(uc002fbp.3)

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    8 qRT-PCR Assays for microRNAs that regulate DHODH:
    hsa-miR-587 hsa-miR-135b hsa-miR-502-5p hsa-miR-525-5p hsa-miR-186 hsa-miR-3119 hsa-miR-520a-5p hsa-miR-135a
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      QuantiTect SYBR Green Assays in human, mouse, rat DHODH
      QuantiFast Probe-based Assays in human, mouse, rat DHODH

    Additional mRNA sequence: 

    AK292293.1 BC065245.1 M94065.1 

    15 DOTS entries:

    DT.105579  DT.97821776  DT.120676292  DT.95264901  DT.97841858  DT.100032231  DT.106531  DT.120676132 
    DT.40215694  DT.95264900  DT.100023695  DT.120676089  DT.437840  DT.97841859  DT.120676282 

    Selected AceView cDNA sequences (see all 82):

    AA412074 NM_001361 AA402362 BQ689300 BU859158 CB121224 AI318268 BU069561 
    BC065245 CR593960 BQ880089 BG024665 AK098239 AU130529 AL547598 BF434819 
    AI499306 AU100282 AJ709815 BI197931 AA362946 AK097300 BI253747 BG332681 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DHODH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DHODH Expression
    About this image


    DHODH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DHODH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHODH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654427
        Custom PCR Arrays for DHODH
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHODH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHODH gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhodh1 , 5 dihydroorotate dehydrogenase1, 5 84.81(n)1
    87.59(a)1
      8 (57.12 cM)5
    567491  NM_020046.31  NP_064430.11 
     1095913435 
    chicken
    (Gallus gallus)
    Aves DHODH1 dihydroorotate dehydrogenase (quinone) 68.65(n)
    73.13(a)
      415876  NM_001006131.2  NP_001006131.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHODH6
    dihydroorotate dehydrogenase (quinone)
    73(a)
    1 ↔ 1
    GL343483.1(366412-370631)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48722 Xenopus laevis transcribed sequence with weak similarity more 76.75(n)    BJ616811.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc29a012 Transcribed sequence with weak similarity to protein more 74.22(n)    BM141306.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhod1 , 3 'de novo' pyrimidine base biosynthesis
    dihydroorotate more3
    Dihydroorotate dehydrogenase1
    48(a)3
    53.16(n)1
    50.13(a)1
      3 85A53
    410221  NM_134311.31  NP_599138.31 
    worm
    (Caenorhabditis elegans)
    Secernentea W02D3.23
    dhod-11
    dihydroorotate dehydrogenase3
    dhod-11
    51(a)3
    51.52(n)1
    52.22(a)1
      I(6745393-6746425)3
    1723921  NM_059529.51  NP_491930.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA16
    Dihydroorotate dehydrogenase, catalyzes the fourth...
    23(a)
    1 ↔ 1
    XI(25215-26159) YKL216W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PYRD1 PYRD 56.04(n)
    54.92(a)
      832394  NM_122236.3  NP_568428.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06763001 Os04g0676300 55.1(n)
    56.76(a)
      4337396  NM_001060790.2  NP_001054255.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for DHODH (see all 472)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0624214
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624212 D G mis40--------
    VAR_0624194
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624192 T I mis40--------
    VAR_0624164
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624162 G A mis40--------
    VAR_0624154
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624152 R C mis40--------
    VAR_0624204
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624202 R W mis40--------
    VAR_0624174
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624172 G D mis40--------
    VAR_0624144
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624142 G R mis40--------
    VAR_0624184
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624182 R W mis40--------
    VAR_0624124
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624122 G E mis40--------
    VAR_0624134
    Postaxial acrofacial dysostosis (POADS)4--see VAR_0624132 R C mis40--------

    HapMap Linkage Disequilibrium report for DHODH (72042487 - 72058955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DHODH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714683CNV Deletion23290073
    nsv833273CNV Loss17160897
    nsv906894CNV Gain21882294
    nsv428329CNV Gain18775914
    dgv898e1CNV Complex17122850
    nsv7285OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): DHODH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHODH
    DNA2.0 Custom Variant and Variant Library Synthesis for DHODH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 126064   
    OMIM disorders: 263750  
    UniProtKB/Swiss-Prot: PYRD_HUMAN, Q02127
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for DHODH:    
    About MalaCards
    miller syndrome    chagas disease    malaria

    2 diseases from the University of Copenhagen DISEASES database for DHODH:
    Malaria     Rheumatoid arthritis

    Find genes that share disorders with DHODH           About GenesLikeMe

    8 Novoseek inferred disease relationships for DHODH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rheumatoid arthritis 49 6 16480261 (1), 18031184 (1), 8925840 (1), 19605743 (1) (see all 5)
    malaria 33.6 8 17228860 (2), 15727850 (2), 17330044 (1), 18522386 (1)
    autoimmune diseases 32.7 3 10673429 (1), 18672895 (1)
    chagas disease 16 1 16172019 (1)
    virus infection 0 2 8925840 (1), 9179295 (1)
    inflammation 0 1 12003373 (1)
    tumors 0 3 2306706 (1), 8687451 (1), 7741767 (1)
    cancer 0 3 10673429 (1), 8687451 (1)

    Genetic Association Database (GAD): DHODH
    Human Genome Epidemiology (HuGE) Navigator: DHODH (3 documents)

    Export disorders for DHODH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DHODH gene, integrated from 10 sources (see all 156):
    (articles sorted by number of sources associating them with DHODH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Requirements for the mitochondrial import and localization of dihydroorotate dehydrogenase. (PubMed id 10727948)1, 2, 9 Rawls J.... Loeffler M. (Eur. J. Biochem. 2000)
    2. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. (PubMed id 10673429)1, 2, 9 Liu S.... Clardy J. (Structure 2000)
    3. Functional expression of a fragment of human dihydroorotate dehydrogenase by means of the baculovirus expression vector system, and kinetic investigation of the purified recombinant enzyme. (PubMed id 8925840)1, 2, 9 Knecht W.... Loeffler M. (Eur. J. Biochem. 1996)
    4. The effect of exon (19C&gt;A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide. (PubMed id 19207032)1, 4, 9 Pawlik A....Drozdzik M. (Pharmacogenomics 2009)
    5. Regional mapping of the gene encoding dihydroorotate dehydrogenase, an enzyme involved in UMP synthesis, electron transport, and superoxide generation, to human chromosome region 16q22. (PubMed id 8211381)1, 3, 9 Barnes T....Patterson D. (Somat. Cell Mol. Genet. 1993)
    6. Cloning and sequencing of a human cDNA coding for dihydroorotate dehydrogenase by complementation of the corresponding yeast mutant. (PubMed id 1446837)1, 2, 9 Minet M.... Lacroute F. (Gene 1992)
    7. Recombinant human dihydroorotate dehydrogenase: expression, purification, and characterization of a catalytically functional truncated enzyme. (PubMed id 7487077)1, 2, 9 Copeland R.A....Patterson T.A. (Arch. Biochem. Biophys. 1995)
    8. Exome sequencing identifies the cause of a Mendelian disorder. (PubMed id 19915526)1, 2, 9 Ng S.B....Bamshad M.J. (Nat. Genet. 2010)
    9. Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis. (PubMed id 19605743)1, 4, 9 Grabar P.B....Dolzan V. (Ann. Rheum. Dis. 2009)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1723 HGNC: 2867 AceView: DHODH Ensembl:ENSG00000102967 euGenes: HUgn1723
    ECgene: DHODH Kegg: 1723 H-InvDB: DHODH

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DHODH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DHODH gene:
    Search GeneIP for patents involving DHODH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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