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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DHODH Gene

protein-coding   GIFtS: 64
GCID: GC16P072042

Dihydroorotate Dehydrogenase (Quinone)

(Previous name: dihydroorotate dehydrogenase)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 genee-wiedemann syndrome, and coloboma of eyelid, and among its related super-pathways are Metabolic pathways and Pyrimidine catabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DHODH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
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
6/24 PDB 3D structures from and Proteopedia for DHODH (see all 24):
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:

  • UniProtKB: The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02127

  • 4/12 DME Specific Peptides for DHODH (Q02127) (see all 12)
     NVSSPNT  GGLSGKP  LVKIAPDL  IDGLIVTN 

    DHODH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DHODH Protein Expression
    REFSEQ proteins: NP_001352.2  
    ENSEMBL proteins: 
     ENSP00000461848   ENSP00000460966   ENSP00000464249   ENSP00000464333   ENSP00000219240  
    Reactome Protein details: Q02127
    Human Recombinant Protein Products for DHODH: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    DHODH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    DHODH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    DHODH for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DHODH 
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    miRNA
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    8 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DHODH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Pyrimidine metabolism
    Pyrimidine metabolism0.50
    3Purine metabolism
    Metabolism of nucleotides0.42
    4Purine metabolism
    Pyrimidine metabolism0.38
    5Pyrimidine biosynthesis
    Pyrimidine biosynthesis0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for DHODH
        Metabolism of nucleotides
    Metabolism
    Pyrimidine metabolism
    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


    DHODH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DHODH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for DHODH (Q021273 ENSP000002192404) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK10P537793I2D: score=4 
    CADENSP000002647054STRING: ENSP00000264705
    UMPSENSP000002326074STRING: ENSP00000232607
    ATP5A1ENSP000002820504STRING: ENSP00000282050
    HSPD1ENSP000003400194STRING: ENSP00000340019
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (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 NAS--
    GO:0006222UMP biosynthetic process ----
    GO:0007565female pregnancy IEA--
    GO:0007595lactation IEA--

    DHODH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DHODH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for DHODH

    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--

    10/25 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

    10/36 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  

    Search CenterWatch for drugs/clinical trials and news about DHODH / PYRD

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/82 AceView cDNA sequences (see all 82):

    BC065245 CR593960 BQ689300 NM_001361 CB121224 BQ880089 BG024665 AA412074 
    BU069561 AI318268 BU859158 AA402362 BI197931 BM834479 CK431064 AJ709815 
    AA905148 BM472821 BG332681 CF780800 BQ070891 AI499306 BI830262 BM854073 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See DHODH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DHODH

    SOURCE GeneReport for Unigene cluster: Hs.654427
        SABiosciences Custom PCR Arrays for DHODH
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHODH gene from 10/24 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 68.65(n)
    73.13(a)
      415876  NM_001006131.1  NP_001006131.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHODH6
    Uncharacterized protein
    72(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
    52.76(n)1
    49.61(a)1
      3 85A53
    410221  NM_057876.41  NP_477224.11 
    worm
    (Caenorhabditis elegans)
    Secernentea W02D3.23
    dhod-11
    dihydroorotate dehydrogenase3
    Protein DHOD-11
    51(a)3
    51.78(n)1
    52.22(a)1
      I(6745393-6746425)3
    1723921  NM_059529.41  NP_491930.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA16
    Dihydroorotate dehydrogenase, catalyzes the fourth...
    22(a)
    1 ↔ 1
    XI(25215-26159)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PYRD1 dihydroorotate dehydrogenase 55.01(n)
    53.73(a)
      832394  NM_122236.3  NP_568428.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06763001 hypothetical protein 55.2(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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/472 SNPs in DHODH are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126064   
    OMIM disorders: 264750  
    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

  • 19 diseases for DHODH:    About MalaCards
    genee-wiedemann syndrome    coloboma of eyelid    supernumerary nipples    dysostosis
    coloboma    chagas disease    malaria    rheumatoid arthritis
    cleft lip    pneumonia    arthritis    hypoxia
    tuberculosis    myeloid leukemia    squamous cell carcinoma    melanoma
    gastric cancer    leukemia    neuronitis

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

    DHODH for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for DHODH gene, integrated from 9 sources (see all 155):
    (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....Loffler M. (2000)
    2. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. (PubMed id 10673429)1, 2, 9 Liu S.... Clardy J. (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.... Loffler M. (1996)
    4. The effect of exon (19C>A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide. (PubMed id 19207032)1, 4, 9 Pawlik A....Drozdzik M. (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. (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. (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. (1995)
    8. Exome sequencing identifies the cause of a mendelian disorder. (PubMed id 19915526)1, 2, 9 Ng S.B....Bamshad M.J. (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. (2009)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 1723 HGNC: 2867 AceView: DHODH Ensembl:ENSG00000102967 euGenes: HUgn1723
    ECgene: DHODH Kegg: 1723 H-InvDB: DHODH

    (According to HUGE)
    About This Section
      --

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



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    About This Section

     
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