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Xdh Gene Detail
Summary
  • Symbol
    Xdh
  • Name
    xanthine dehydrogenase
  • Synonyms
    xanthine oxidase, XO, Xor, Xox1, Xox-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98973
    NCBI Gene: 22436
  • Gene Overview
    MyGene.info: XDH
Location & Maps
more
  • Sequence Map
    Chr17:73883908-73950182 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      66275 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 45.25 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    XDH, xanthine dehydrogenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    XDH, xanthine dehydrogenase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    XAN1, XO, XOR
  • Links
    NCBI Gene ID: 7498
    neXtProt AC: NX_P47989

  • Chr Location
    2p23.1; chr2:31334309-31414749 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human XDH associations

Human Disease Mouse Models
       Xanthinuria, Type I; XAN1   OMIM: 278300
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 3 alleles in 3 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Targeted
    4
  • Incidental Mutations
Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024066 Ensembl Gene Model | MGI Sequence Detail 66275 C57BL/6J ±  kb
transcript ENSMUST00000024866 Ensembl | MGI Sequence Detail 4587 Not Applicable  
polypeptide ENSMUSP00000024866 Ensembl | MGI Sequence Detail 1335 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    492 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000017477 xanthine dehydrogenase/oxidase
  • EC
  • InterPro Domains
    IPR002888 [2Fe-2S]-binding
    IPR006058 2Fe-2S ferredoxin, iron-sulphur binding site
    IPR001041 2Fe-2S ferredoxin-type iron-sulfur binding domain
    IPR016208 Aldehyde oxidase/xanthine dehydrogenase
    IPR000674 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
    IPR008274 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding
    IPR012675 Beta-grasp domain
    IPR005107 CO dehydrogenase flavoprotein, C-terminal
    IPR016169 CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2
    IPR016166 FAD-binding, type 2
    IPR016167 FAD-binding, type 2, subdomain 1
    IPR002346 Molybdopterin dehydrogenase, FAD-binding
    IPR022407 Oxidoreductase, molybdopterin binding site
    IPR014309 Xanthine dehydrogenase, molybdopterin binding subunit
    IPR014307 Xanthine dehydrogenase, small subunit
Molecular
Reagents
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  • All nucleic 121
    Genomic 11
    cDNA 107
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-15471, MGD-MRK-15798, MGD-MRK-15799
References
more
  • Summaries
    All 54
    Developmental Gene Expression 5
    Gene Ontology 9
    Phenotypes 10
  • Earliest
    J:6662 Holmes RS, et al., Liver aldehyde oxidase and xanthine oxidase genetics in the mouse. Anim Blood Groups Biochem Genet. 1981;12(3):193-9
  • Latest
    J:221869 Ives A, et al., Xanthine oxidoreductase regulates macrophage IL1beta secretion upon NLRP3 inflammasome activation. Nat Commun. 2015;6:6555

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory