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Aliases for XDH Gene

Aliases for XDH Gene

  • Xanthine Dehydrogenase 2 3 5
  • Xanthine Dehydrogenase/Oxidase 3
  • Xanthine Oxidoreductase 3
  • Xanthene Dehydrogenase 2
  • EC 61
  • EC 61
  • XAN1 3
  • XDHA 4
  • XOR 3
  • XO 3

External Ids for XDH Gene

Previous GeneCards Identifiers for XDH Gene

  • GC02M031482
  • GC02M031665
  • GC02M031533
  • GC02M031470
  • GC02M031410

Summaries for XDH Gene

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 I and Xanthinuria. Among its related pathways are Purine metabolism (REACTOME) and Caffeine Pathway, Pharmacokinetics. GO annotations related to this gene include protein homodimerization activity and iron ion binding. An important paralog of this gene is AOX1.

UniProtKB/Swiss-Prot for XDH Gene

  • 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).

Tocris Summary for XDH Gene

Gene Wiki entry for XDH Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XDH Gene

Genomics for XDH Gene

Regulatory Elements for XDH Gene

Enhancers for XDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G031381 1.3 Ensembl ENCODE dbSUPER 10 +30.6 30615 5.4 TBP CTCF TAF1 JUN MAX SIN3A RAD21 ZBTB7B RFX5 ZNF316 XDH YIPF4 GC02M031380 PIR52882 GC02M031395
GH02G031411 1 Ensembl ENCODE 9.4 +0.4 405 5.3 CTCF MAX RAD21 YY1 ZFHX2 HNF4G EGR2 ZNF654 RFX1 CEBPB XDH EHD3 GC02M031395
GH02G031400 1.1 Ensembl ENCODE dbSUPER 7.9 +12.8 12776 2.8 ZNF146 JUND POLR2A SIN3A FOS EP300 NFE2L2 XDH GC02M031395 GC02M031380 PIR52882
GH02G031980 1.3 Ensembl ENCODE dbSUPER 5.1 -566.2 -566167 1.6 CTCF PKNOX1 ATF1 RFX5 TCF12 FOXK2 RFXANK NFYB ZNF143 BCLAF1 XDH MEMO1 GC02P031938
GH02G031502 0.8 ENCODE 7.3 -89.5 -89512 3.0 CTCF ESRRA FOXA2 SUZ12 TAF1 MAX CEBPG ZNF644 RAD21 YY1 XDH SLC30A6 ENSG00000228563 GC02P031438
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around XDH on UCSC Golden Path with GeneCards custom track

Genomic Location for XDH Gene

31,334,309 bp from pter
31,414,749 bp from pter
80,441 bases
Minus strand

Genomic View for XDH Gene

Genes around XDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for XDH Gene

Proteins for XDH Gene

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

    Protein Symbol:
    Recommended name:
    Xanthine dehydrogenase/oxidase
    Protein Accession:
    Secondary Accessions:
    • Q16681
    • Q16712
    • Q4PJ16

    Protein attributes for XDH Gene

    1333 amino acids
    Molecular mass:
    146424 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302;
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer. Interacts with BTN1A1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for XDH Gene

neXtProt entry for XDH Gene

Selected DME Specific Peptides for XDH Gene


Post-translational modifications for XDH Gene

  • Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Glycosylation at Asn1074
  • Modification sites at PhosphoSitePlus

Other Protein References for XDH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for XDH Gene

Suggested Antigen Peptide Sequences for XDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the xanthine dehydrogenase family.
  • Belongs to the xanthine dehydrogenase family.
genes like me logo Genes that share domains with XDH: view

No data available for Gene Families for XDH Gene

Function for XDH Gene

Molecular function for XDH Gene

GENATLAS Biochemistry:
xanthine oxidase (dehydrogenase),catalyzing the oxidation of hypoxanthine to purine and purine to uric acid,adenine nucleotide catalytic pathway
UniProtKB/Swiss-Prot CatalyticActivity:
Xanthine + NAD(+) + H(2)O = urate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Hypoxanthine + NAD(+) + H(2)O = xanthine + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Xanthine + H(2)O + O(2) = urate + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Can be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by proteolysis or reversibly through the oxidation of sulfhydryl groups.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for XDH Gene

Gene Ontology (GO) - Molecular Function for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004854 xanthine dehydrogenase activity IDA 8670112
GO:0004855 xanthine oxidase activity IDA,EXP 8670112
GO:0005506 iron ion binding IEA --
GO:0009055 electron carrier activity IEA --
genes like me logo Genes that share ontologies with XDH: view
genes like me logo Genes that share phenotypes with XDH: view

Human Phenotype Ontology for XDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XDH Gene

MGI Knock Outs for XDH:

Animal Model Products

miRNA for XDH Gene

miRTarBase miRNAs that target XDH

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for XDH
  • Applied Biological Materials Clones for XDH

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

Localization for XDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for XDH Gene

Cytoplasm. Peroxisome. Secreted.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XDH gene
Compartment Confidence
extracellular 5
peroxisome 4
cytosol 4
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with XDH: view

Pathways & Interactions for XDH Gene

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

Gene Ontology (GO) - Biological Process for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IDA 18386220
GO:0001937 negative regulation of endothelial cell proliferation IDA 18386220
GO:0006195 purine nucleotide catabolic process TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 18386220
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with XDH: view

No data available for SIGNOR curated interactions for XDH Gene

Drugs & Compounds for XDH Gene

(92) Drugs for XDH Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Febuxostat Approved Pharma inhibitor, Target Xanthine oxidase inhibitor 55
Allopurinol Approved Pharma inhibitor, Target, Enzyme, substrate 145
Azathioprine Approved Pharma Enzyme, substrate 177
Deferoxamine Approved, Investigational Pharma Enzyme, inhibitor 47
Pyrazinamide Approved Pharma Enzyme, substrate 90

(101) Additional Compounds for XDH Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,7-Dimethyluric acid
1-Methyluric acid
  • 1-Methylurate
  • 2-Carboxamido-5-hydroxypyrazine
  • 5-Hydroxy-(8CI)-pyrazinecarboxamide
  • 5-Hydroxypyrazinecarboxamide
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor

(5) Tocris Compounds for XDH Gene

Compound Action Cas Number
1-Methyl-D-tryptophan Indoleamine 2,3-dioxygenase (IDO) inhibitor 110117-83-4
680C91 Potent and selective tryptophan 2,3-dioxygenase (TDO) inhibitor 163239-22-3
Febuxostat Xanthine oxidase inhibitor 144060-53-7
LM 10 Selective tryptophan 2,3-dioxygenase (TDO) inhibitor 1316695-35-8
MDL 72527 Polyamine oxidase (PAO) inhibitor 93565-01-6

(3) ApexBio Compounds for XDH Gene

Compound Action Cas Number
Allopurinol Sodium 17795-21-0
Febuxostat 144060-53-7
Topiroxostat Xanthine oxidoreductase (XOR) inhibitor 577778-58-6
genes like me logo Genes that share compounds with XDH: view

Drug Products

Transcripts for XDH Gene

mRNA/cDNA for XDH Gene

Unigene Clusters for XDH Gene

Xanthine dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for XDH
  • Applied Biological Materials Clones for XDH

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

No ASD Table

Relevant External Links for XDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x20.8), Small Intestine - Terminal Ileum (x7.1), Esophagus - Mucosa (x6.6), and Colon - Transverse (x6.4).

Protein differential expression in normal tissues from HIPED for XDH Gene

This gene is overexpressed in Milk (58.1).

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

NURSA nuclear receptor signaling pathways regulating expression of XDH Gene:


SOURCE GeneReport for Unigene cluster for XDH Gene:


mRNA Expression by UniProt/SwissProt for XDH Gene:

Tissue specificity: Detected in milk (at protein level).

Evidence on tissue expression from TISSUES for XDH Gene

  • Liver(4.7)
  • Intestine(4.3)
  • Kidney(2.6)

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

Germ Layers:
  • mesoderm
  • cardiovascular
  • immune
  • skeletal muscle
  • urinary
  • kidney
  • ureter
  • urinary bladder
genes like me logo Genes that share expression patterns with XDH: view

Primer Products

No data available for Protein tissue co-expression partners for XDH Gene

Orthologs for XDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XDH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia XDH 34 35
  • 99.42 (n)
(Canis familiaris)
Mammalia XDH 34 35
  • 88.79 (n)
(Bos Taurus)
Mammalia XDH 34 35
  • 88.64 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
-- 35
  • 82 (a)
-- 35
  • 81 (a)
-- 35
  • 76 (a)
-- 35
  • 75 (a)
-- 35
  • 74 (a)
-- 35
  • 73 (a)
-- 35
  • 73 (a)
-- 35
  • 73 (a)
-- 35
  • 73 (a)
-- 35
  • 71 (a)
-- 35
  • 70 (a)
-- 35
  • 69 (a)
-- 35
  • 68 (a)
-- 35
  • 66 (a)
-- 35
  • 65 (a)
-- 35
  • 63 (a)
-- 35
  • 58 (a)
-- 35
  • 57 (a)
-- 35
  • 56 (a)
-- 35
  • 56 (a)
(Rattus norvegicus)
Mammalia Xdh 34
  • 86.23 (n)
(Mus musculus)
Mammalia Xdh 34 16 35
  • 85.52 (n)
(Monodelphis domestica)
Mammalia XDH 35
  • 85 (a)
(Gallus gallus)
Aves XDH 34 35
  • 71.62 (n)
(Anolis carolinensis)
Reptilia XDH 35
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497499 34
  • 67.03 (n)
(Danio rerio)
Actinopterygii xdh 34 35
  • 66.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta ry 36 34 35
  • 57.05 (n)
CG18519 36
  • 31 (a)
CG18516 36
  • 29 (a)
CG18522 36
  • 29 (a)
CG6045 36
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007918 34
  • 33.08 (n)
(Caenorhabditis elegans)
Secernentea F55B11.1 36 34 35
  • 51.63 (n)
F15E6.6 36
  • 36 (a)
B0222.9 36
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons XDH1 34
  • 52.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6666 34
(Oryza sativa)
Liliopsida Os03g0429800 34
  • 53.05 (n)
Os.10786 34
(Hordeum vulgare)
Liliopsida Hv.1130 34
(Triticum aestivum)
Liliopsida Ta.27265 34
(Zea mays)
Liliopsida Zm.3935 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03350 34
  • 54.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
-- 35
  • 50 (a)
CSA.924 35
  • 49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13332 34
Species where no ortholog for XDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for XDH Gene

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

Paralogs for XDH Gene

Paralogs for XDH Gene

(1) SIMAP similar genes for XDH Gene using alignment to 2 proteins:

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

Variants for XDH Gene

Sequence variations from dbSNP and Humsavar for XDH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs72549369 Pathogenic, Xanthinuria 1 (XAN1) [MIM:278300] 31,397,718(-) TGTGC(C/T)GCTGC reference, missense
rs775646772 A breast cancer sample 31,366,061(+) CACTC(A/C/G)AACCA reference, missense, stop-gained
VAR_035899 A breast cancer sample
rs119460972 Pathogenic 31,386,525(-) AGCTG(A/C/G/T)GATTT reference, synonymous-codon, missense, stop-gained
rs10590467 Likely benign 31,335,250(+) CTCAA(-/AG)AGTAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv3747n100 CNV gain 25217958
esv2544812 CNV insertion 19546169
esv2719874 CNV deletion 23290073
esv2762446 CNV gain 21179565
esv3575212 CNV gain 25503493
esv3583709 CNV loss 25503493
esv3590219 CNV loss 21293372
nsv456030 CNV gain 19166990
nsv581269 CNV gain 21841781

Variation tolerance for XDH Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XDH Gene

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

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

Disorders for XDH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
xanthinuria, type i
  • xanthine dehydrogenase deficiency
  • xanthinuria, type i
hereditary xanthinuria
  • xanthinuria, type i
adenine phosphoribosyltransferase deficiency
  • 2,8-dihydroxyadenine urolithiasis
  • uricacidemia
- elite association - COSMIC cancer census association via MalaCards
Search XDH in MalaCards View complete list of genes associated with diseases


  • Xanthinuria 1 (XAN1) [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. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. {ECO:0000269 PubMed:10844591, ECO:0000269 PubMed:11379872, ECO:0000269 PubMed:14551354, ECO:0000269 PubMed:9153281}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for XDH Gene

xanthinuria type I

Relevant External Links for XDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with XDH: view

Publications for XDH Gene

  1. 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. (PMID: 17301077) Yamaguchi Y. … Nishino T. (J. Biochem. 2007) 3 4 22 64
  2. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (PMID: 9153281) Ichida K. … Sakai O. (J. Clin. Invest. 1997) 3 4 22 64
  3. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. (PMID: 8224915) Ichida K. … Nishino T. (Gene 1993) 2 3 4 64
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64

Products for XDH Gene

  • Addgene plasmids for XDH

Sources for XDH Gene

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