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XDH Gene

protein-coding   GIFtS: 66
GCID: GC02M031470

Xanthine Dehydrogenase

(Previous name: xanthene dehydrogenase)
  See XDH-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
Xanthine Dehydrogenase1 2     Xanthine Oxidoreductase2
Xanthene Dehydrogenase1     XDHA3
XO2     EC 1.17.1.48
XOR2     EC 1.7.2.28
Xanthine Dehydrogenase/Oxidase2     

External Ids:    HGNC: 128051   Entrez Gene: 74982   Ensembl: ENSG000001581257   OMIM: 6076335   UniProtKB: P479893   

Export aliases for XDH gene to outside databases

Previous GC identifers: GC02M031482 GC02M031665 GC02M031533 GC02M031410 GC02M031294


(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 XDH Gene:
Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative
metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to
perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by
reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase
cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection
through an oxygen metabolite-dependent mechanism. (provided by RefSeq, Jan 2014)

GeneCards Summary for XDH Gene:
XDH (xanthine dehydrogenase) is a protein-coding gene. Diseases associated with XDH include xanthinuria type 1, and adenine phosphoribosyltransferase deficiency. GO annotations related to this gene include iron ion binding and protein homodimerization activity. An important paralog of this gene is AOX1.

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989
Function: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the
oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low
oxidase activity towards aldehydes (in vitro)

Gene Wiki entry for XDH (Xanthine dehydrogenase) Gene


(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_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the XDH gene promoter:
         c-Fos   NF-1   p53   AP-1   ATF-2   SRY   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXDH promoter sequence
   Search Chromatin IP Primers for XDH

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


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

Entrez Gene cytogenetic band: 2p23.1   Ensembl cytogenetic band:  2p23.1   HGNC cytogenetic band: 2p23.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M031470:  view genomic region     (about GC identifiers)

Start:
31,557,187 bp from pter      End:
31,637,611 bp from pter
Size:
80,425 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: XDH_HUMAN, P47989 (See protein sequence)
Recommended Name: Xanthine dehydrogenase/oxidase  
Size: 1333 amino acids; 146424 Da
Cofactor: Binds 2 2Fe-2S clusters
Cofactor: FAD
Cofactor: Binds 1 molybdenum-molybdopterin (Mo-MPT) cofactor per subunit
Subunit: Homodimer. Interacts with BTN1A1 (By similarity)
2 PDB 3D structures from and Proteopedia for XDH:
2CKJ (3D)        2E1Q (3D)    
Secondary accessions: Q16681 Q16712 Q4PJ16

Explore the universe of human proteins at neXtProt for XDH: NX_P47989

Explore proteomics data for XDH at MOPED

Post-translational modifications: 

  • Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O) (By
    similarity)1
  • Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form
    (D) to the oxidase form (O) (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for XDH (P47989) (see all 5)
     QEHFYLE  LKAQHPD  AKLVVGNTE  RCMLDRDEDM 


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

    REFSEQ proteins: NP_000370.2  
    ENSEMBL proteins: 
     ENSP00000368727  
    Reactome Protein details: P47989

    XDH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for XDH
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    GenScript Custom Purified and Recombinant Proteins Services for XDH
    Novus Biologicals XDH Protein
    Novus Biologicals XDH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XDH

     
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    XDH Antibody Products:

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    Cloud-Clone Corp. Antibodies for XDH
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    LSBio Antibodies in human, mouse, rat for XDH

    XDH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for XDH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XDH
    Cloud-Clone Corp. CLIAs for XDH
    Search eBioscience for ELISAs for XDH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 14):
     IPR016208 Ald_Oxase/xanthine_DH
     IPR002346 Mopterin_DH_FAD-bd
     IPR012675 Beta-grasp_dom
     IPR002888 2Fe-2S-bd
     IPR016167 FAD-bd_2_sub1

    Graphical View of Domain Structure for InterPro Entry P47989

    ProtoNet protein and cluster: P47989

    Selected Blocks protein domains (see all 6):
    IPB000674 Aldehyde oxidase and xanthine dehydrogenase
    IPB001041 Ferredoxin
    IPB002346 Molybdopterin dehydrogenase
    IPB002888 [2Fe-2S]-binding
    IPB005107 CO dehydrogenase flavoprotein C-terminal domain


    UniProtKB/Swiss-Prot: XDH_HUMAN, P47989
    Similarity: Belongs to the xanthine dehydrogenase family
    Similarity: Contains 1 2Fe-2S ferredoxin-type domain
    Similarity: Contains 1 FAD-binding PCMH-type domain


    Find genes that share domains with XDH           About GenesLikeMe


    (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,
    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: XDH_HUMAN, P47989
    Function: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the
    oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low
    oxidase activity towards aldehydes (in vitro)
    Catalytic activity: Hypoxanthine + NAD(+) + H(2)O = xanthine + NADH
    Catalytic activity: Xanthine + H(2)O + O(2) = urate + H(2)O(2)
    Enzyme regulation: Can be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by
    proteolysis or reversibly through the oxidation of sulfhydryl groups (By similarity)

         Genatlas biochemistry entry for XDH:
    xanthine oxidase (dehydrogenase),catalyzing the oxidation of hypoxanthine to purine and purine to uric
    acid,adenine nucleotide catalytic pathway

         Enzyme Numbers (IUBMB): EC 1.7.2.22 EC 1.17.1.42

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004854xanthine dehydrogenase activity IDA8670112
    GO:0004855xanthine oxidase activity IDA17301077
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with XDH           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Xdh):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  no phenotypic analysis 
     renal/urinary system 

    Find genes that share phenotypes with XDH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Xdhtm1Fink for XDH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XDH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XDH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XDH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XDH

    miRNA
    Products:
        
    miRTarBase miRNAs that target XDH:
    hsa-mir-26b-5p (MIRT028928)

    Block miRNA regulation of human, mouse, rat XDH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate XDH (see all 11):
    hsa-miR-411* hsa-miR-579 hsa-miR-3128 hsa-miR-582-3p hsa-miR-448 hsa-miR-379* hsa-miR-3660 hsa-miR-491-3p
    SwitchGear 3'UTR luciferase reporter plasmidXDH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for XDH
    Predesigned siRNA for gene silencing in human, mouse, rat XDH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XDH

    Clone
    Products:
         
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    OriGene ORF clones in mouse, rat for XDH
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    GenScript: all cDNA clones in your preferred vector: XDH (NM_000379)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XDH
    Addgene plasmids for XDH 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for XDH
    Browse ESI BIO Cell Lines and PureStem Progenitors for XDH 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XDH


    (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
    XDH_HUMAN, P47989: Cytoplasm (By similarity). Peroxisome (By similarity). Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    mitochondrion2
    nucleus2
    peroxisome2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005777peroxisome IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with XDH           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 XDH About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Caffeine Pathway, Pharmacokinetics
    Caffeine metabolism0.44
    Theophylline Pathway, Pharmacokinetics0.00
    Caffeine Pathway, Pharmacokinetics0.44
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine catabolism0.00
    Metabolism of nucleotides0.42
    4Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics0.43
    Doxorubicin Pathway, Pharmacokinetics0.43
    5Purine metabolism (KEGG)
    Purine metabolism0.38


    Find genes that share SuperPaths with XDH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for XDH
        Retinol metabolism

    2 BioSystems Pathways for XDH
        Oxidative Stress
    Selenium Pathway

    1 Reactome Pathway for XDH
        Purine catabolism

    5 PharmGKB Pathways for XDH
        Caffeine Pathway, Pharmacokinetics
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Doxorubicin Pathway, Pharmacokinetics
    Theophylline Pathway, Pharmacokinetics
    Uric Acid-Lowering Drugs Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for XDH):
        Purine metabolism
    Caffeine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways
    Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XDH: 
              Endothelial Cell Biology in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for XDH (P479893 ENSP000003687274) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEN1P397483, ENSP000003054804I2D: score=4 STRING: ENSP00000305480
    BTN1A1Q134103, ENSP000002445134I2D: score=1 STRING: ENSP00000244513
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    CATENSP000002410524STRING: ENSP00000241052
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation IDA18386220
    GO:0001937negative regulation of endothelial cell proliferation IDA18386220
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA18386220

    Find genes that share ontologies with XDH           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for XDH available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FebuxostatXanthine oxidase inhibitor[144060-53-7]
    680C91 Potent and selective inhibitor of tryptophan 2,3-dioxygenase [163239-22-3]
    MDL 72527Polyamine oxidase (PAO) inhibitor[93565-01-6]

    Selected HMDB Compounds for XDH (see all 24)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Hydroxypyrazinamide2-Carboxamido-5-hydroxypyrazine (see all 3)13924-96-43663245
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-518039602
    1,7-Dimethyluric acid ----
    1-Methyluric acid1-Methylurate 708-79-2--
    1-Methylxanthine ----
    3,7-Dimethyluric acid3,7-Dimethyl-2,6,8-trihydroxypurine (see all 2)13087-49-5--
    7-Methyluric acid ----
    7-MethylxanthineMethylxanthine (see all 8)552-62-5--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--

    Selected DrugBank Compounds for XDH (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AllopurinolAllopurinol Sodium (see all 3)315-30-0targetinhibitor19436671 18409526 19376361 19654053 19584965 5415686 12184468 11752352 16507884 20029618 20046204
    enzymesubstrate19436671 18409526 19376361 19654053 19584965 5415686 12184468 11752352 16507884 20029618 20046204 8216357
    CarboplatinCBDCA (see all 2)41575-94-4enzymeinducer11520631 14555405 12420797 15225673
    CisplatinCDDP (see all 7)15663-27-1enzymeinducer16158393 15986578 19818462
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    dioxothiomolybdenum(VI) ion-- --target--17139284 17016423 10592235
    Daunorubicin-- 20830-81-3enzymesubstrate9212777 9367530
    DoxorubicinAdria (see all 4)23214-92-8enzymesubstrate10860924 12688675
    NADHbeta-DPNH (see all 18)606-68-8enzymesubstrate21361328 19450565
    NitrofurazoneNFZ (see all 2)59-87-0enzymesubstrate952514 6585203
    TrifluoperazineTrifluoperazin (see all 13)117-89-5enzymeconversion inhibitor8483075 8304479

    Selected Novoseek inferred chemical compound relationships for XDH gene (see all 155)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xanthine 99.2 5994 8038267 (10), 2170383 (10), 9023782 (9), 17906999 (8) (see all 99)
    hypoxanthine 94 461 2260639 (6), 16099821 (5), 9558291 (4), 7654490 (4) (see all 99)
    allopurinol 94 374 16650385 (7), 19794315 (4), 10027663 (3), 18215719 (3) (see all 99)
    superoxide 91.6 996 13678240 (5), 16650385 (5), 12911273 (5), 14738912 (4) (see all 99)
    oxypurinol 90.8 88 16650385 (6), 8730975 (4), 15139781 (3), 16214034 (2) (see all 57)
    febuxostat 89.6 51 15571211 (3), 16022578 (2), 19448587 (2), 19075968 (2) (see all 33)
    2-hydroxy-6-methylpurine 89.5 10 18063585 (2), 11330474 (2), 11456936 (2), 8385992 (1) (see all 6)
    uric acid 87.7 359 8922344 (6), 19933411 (6), 8134172 (4), 8572327 (4) (see all 99)
    molybdenum 84.6 126 8302261 (5), 7642590 (5), 11602591 (3), 11302742 (3) (see all 78)
    h2o2 84.4 430 1646751 (9), 9801073 (5), 8572327 (5), 7762682 (4) (see all 99)

    2 PharmGKB related drug/compound annotations for XDH gene    About this table
    Drug/compound PharmGKB Annotation
    azathioprine
    didanosineCA  



    Find genes that share compounds with XDH           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 XDH gene: 
    NM_000379.3  

    Unigene Cluster for XDH:

    Xanthine dehydrogenase
    Hs.250  [show with all ESTs]
    Unigene Representative Sequence: NM_000379
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379416(uc002rnv.1) ENST00000491727 ENST00000476043
    miRNA
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    Block miRNA regulation of human, mouse, rat XDH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate XDH (see all 11):
    hsa-miR-411* hsa-miR-579 hsa-miR-3128 hsa-miR-582-3p hsa-miR-448 hsa-miR-379* hsa-miR-3660 hsa-miR-491-3p
    SwitchGear 3'UTR luciferase reporter plasmidXDH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for XDH
    Predesigned siRNA for gene silencing in human, mouse, rat XDH
    Clone
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    OriGene clones in human, mouse for XDH (see all 6)
    OriGene ORF clones in mouse, rat for XDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: XDH (NM_000379)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XDH
    Addgene plasmids for XDH 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XDH
      QuantiTect SYBR Green Assays in human, mouse, rat XDH
      QuantiFast Probe-based Assays in human, mouse, rat XDH

    Additional mRNA sequence: 

    D11456.2 U06117.1 U39487.1 

    3 DOTS entries:

    DT.309418  DT.100747324  DT.40219821 

    Selected AceView cDNA sequences (see all 38):

    D11456 CR614711 AA588742 U39487 AA877996 AI580045 AA386219 BV183408 
    CD238871 CD239432 NM_000379 BP382907 BM969390 BX350215 CD238503 U06117 
    AL552489 AL709033 AA584403 BG617489 AK130114 AW444632 AI685412 BF105280 

    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)
    About This Section

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    XDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    XDH Expression
    About this image


    XDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
    XDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250

    UniProtKB/Swiss-Prot: XDH_HUMAN, P47989
    Tissue specificity: Detected in milk (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XDH: 
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              Cellular Stress Responses in human mouse rat
              Drug Metabolism in human mouse rat

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    (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 XDH gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xdh1 , 5 xanthine dehydrogenase1, 5 85.52(n)1
    89.41(a)1
      17 (45.25 cM)5
    224361  NM_011723.21  NP_035853.21 
     738839085 
    chicken
    (Gallus gallus)
    Aves XDH1 xanthine dehydrogenase 71.62(n)
    73.55(a)
      396025  NM_205127.1  NP_990458.1 
    lizard
    (Anolis carolinensis)
    Reptilia XDH6
    xanthine dehydrogenase
    73(a)
    1 ↔ 1
    1(250635454-250699325)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ616150.12   -- 74.48(n)    BJ616150.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xdh1 xanthine dehydrogenase 66.77(n)
    69.03(a)
      560486  XM_683891.4  XP_688983.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta ry1 , 3 xanthine dehydrogenase3
    rosy1
    52(a)
    (best of 5)3
    57.05(n)1
    52.84(a)1
      3 87D93
    416051  NM_079613.31  NP_524337.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F55B11.11 , 3 xanthine dehydrogenase3
    F55B11.11
    47(a)
    (best of 3)3
    51.63(n)1
    48.78(a)1
      IV(14401351-14413053)3
    1783811  NM_070346.31  NP_502747.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XDH11 XDH1 52.78(n)
    49.31(a)
      829641  NM_119655.3  NP_195215.2 
    rice
    (Oryza sativa)
    Liliopsida Os.107862 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.23(n)    AK067814.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XDH gene
    AOX12  
    1 SIMAP similar gene for XDH using alignment to 2 protein entries:     XDH_HUMAN (see all proteins):
    AOX1

    Find genes that share paralogs with XDH           About GenesLikeMe



    (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)
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    Selected SNPs for XDH (see all 2210)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0459004
    Xanthinuria 1 (XU1)4--see VAR_0459002 R C mis40--------
    VAR_0358994
    A breast cancer sample4--see VAR_0358992 L F mis40--------
    VAR_0359004
    A breast cancer sample4--see VAR_0359002 R G mis40--------
    rs725493691,2
    Cpathogenic131542883(-) TGTGCC/TGCTGC 2 R C mis10--------
    rs1474764681,2
    C,Funtested131520587(+) GTCTTC/TCAGGT 2 K E mis11Minor allele frequency- T:0.00NA 4552
    rs1408944821,2
    C--31294415(+) ACACC-/AAAAAA 1 -- ds50010--------
    rs1112830191,2
    C--31294804(+) AGAAAGTGTGT/-
            
    GTGTG
    1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs134080331,2
    C--31348142(+) GGAAGA/GAAGGA 1 -- int1 trp30--------
    rs1393569161,2
    --31479136(+) ATTTCC/TAGTTC 1 -- ds50010--------
    rs774022491,2
    C,F--31479181(+) TCTACT/GCTCAC 1 -- ds50012Minor allele frequency- G:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for XDH (31557187 - 31637611 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for XDH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719874CNV Deletion23290073
    esv271536CNV Insertion20981092
    esv273424CNV Insertion20981092
    esv2544812CNV Insertion19546169
    nsv456030CNV Gain19166990

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

    (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: 607633   
    OMIM disorders: 278300  
    UniProtKB/Swiss-Prot: XDH_HUMAN, P47989
  • Xanthinuria 1 (XU1) [MIM:278300]: A disorder characterized by excretion of very large amounts of xanthine
    in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine.
    Xanthinuria 1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for XDH:    
    About MalaCards
    xanthinuria type 1    adenine phosphoribosyltransferase deficiency    influenza    lesch-nyhan syndrome
    patau syndrome    mild pre-eclampsia    pseudogout    gout
    nephrolithiasis    hyperuricemia    sulfite oxidase deficiency    molybdenum cofactor deficiency
    edwards syndrome    abdominal aortic aneurysm    hypoplastic left heart syndrome    ischemia
    colorectal cancer

    3 diseases from the University of Copenhagen DISEASES database for XDH:
    Hyperuricemia     Vascular disease     Gout

    Find genes that share disorders with XDH           About GenesLikeMe

    Selected Novoseek inferred disease relationships for XDH gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xanthinuria, type i 90.4 30 7667222 (4), 8976115 (2), 2379312 (1), 10844591 (1) (see all 19)
    xanthinuria 89.2 31 2379312 (4), 10844591 (4), 12670960 (2), 7829092 (2) (see all 17)
    molybdenum cofactor deficiency 84.8 20 8812740 (2), 9634514 (1), 12385777 (1), 7474893 (1) (see all 15)
    hyperuricemia 79.2 35 16022578 (2), 20109996 (2), 19075968 (2), 18409526 (1) (see all 26)
    gout 75.6 47 16022578 (2), 20109996 (2), 19075968 (2), 15751090 (2) (see all 33)
    xanthinuria, type ii 72.9 3 11302742 (2), 17368066 (1)
    hypouricemia 62.6 4 8976110 (1), 14624414 (1), 1912172 (1)
    cell damage 62.5 33 2390135 (2), 9928765 (2), 15853750 (1), 16602626 (1) (see all 21)
    oxidase deficiency 62.1 1 15025809 (1)
    lesch-nyhan syndrome 50.9 1 8976090 (1)

    Genatlas disease: XDH
    xanthinuria type I

    Genetic Association Database (GAD): XDH
    Human Genome Epidemiology (HuGE) Navigator: XDH (16 documents)

    Export disorders for XDH 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 XDH gene, integrated from 10 sources (see all 1745):
    (articles sorted by number of sources associating them with XDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. (PubMed id 8224915)1, 2, 3 Ichida K.... Nishino T. (Gene 1993)
    2. Human xanthine oxidase changes its substrate specificity to aldehyde oxidase type upon mutation of amino acid residues in the active site: roles of active site residues in binding and activation of purine substrate. (PubMed id 17301077)1, 2, 9 Yamaguchi Y.... Nishino T. (J. Biochem. 2007)
    3. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PubMed id 19500084)1, 4, 9 Smith M.A....Sanderson J.D. (amp 2009)
    4. Associations of hypertension and its complications with variations in the xanthine dehydrogenase gene. (PubMed id 18712049)1, 4, 9 Yang J....Kawano Y. (Hypertens. Res. 2008)
    5. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (PubMed id 9153281)1, 2, 9 Ichida K.... Sakai O. (J. Clin. Invest. 1997)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    8. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    9. Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors. (PubMed id 19505917)1, 4 Bhatti P....Rajaraman P. (amp 2009)
    10. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)

    (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)
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    Entrez Gene: 7498 HGNC: 12805 AceView: XDH Ensembl:ENSG00000158125 euGenes: HUgn7498
    ECgene: XDH Kegg: 7498 H-InvDB: XDH

    (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)
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    NameDescription
    PharmGKB entry for XDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=XDH[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xdh/

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

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



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