About   Help   FAQ
Xdh Gene Detail
Summary
  • Symbol
    Xdh
  • Name
    xanthine dehydrogenase
  • Synonyms
    xanthine oxidase, XO, Xor, Xox-1, Xox1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98973
    NCBI Gene: 22436
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:74190890-74257191 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 45.25 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2117 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98973
 protein coding gene Chr17:74190890-74257191 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024022
 protein coding gene Chr17:76467973-76538495 (-)
A/J MGP_AJ_G0023980
 protein coding gene Chr17:74133023-74198320 (-)
AKR/J MGP_AKRJ_G0023949
 protein coding gene Chr17:75189665-75258522 (-)
BALB/cJ MGP_BALBcJ_G0023981
 protein coding gene Chr17:74049551-74117122 (-)
C3H/HeJ MGP_C3HHeJ_G0023745
 protein coding gene Chr17:76134315-76203917 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024427
 protein coding gene Chr17:79229188-79310432 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021871
 protein coding gene Chr17:69811901-69875721 (-)
CAST/EiJ MGP_CASTEiJ_G0023226
 protein coding gene Chr17:76598920-76669107 (-)
CBA/J MGP_CBAJ_G0023720
 protein coding gene Chr17:82507243-82590325 (-)
DBA/2J MGP_DBA2J_G0023849
 protein coding gene Chr17:72752904-72819949 (-)
FVB/NJ MGP_FVBNJ_G0023815
 protein coding gene Chr17:72247887-72313351 (-)
LP/J MGP_LPJ_G0023931
 protein coding gene Chr17:77235173-77305154 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023843
 protein coding gene Chr17:82334873-82406289 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024471
 protein coding gene Chr17:75695668-75766025 (-)
PWK/PhJ MGP_PWKPhJ_G0022972
 protein coding gene Chr17:72111042-72178986 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022783
 protein coding gene Chr17:72295613-72414566 (-)
WSB/EiJ MGP_WSBEiJ_G0023293
 protein coding gene Chr17:76547988-76615970 (-)



Homology
more
  • Human Ortholog
    XDH, xanthine dehydrogenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    XDH, xanthine dehydrogenase
  • Synonyms
    XAN1, XO, XOR
  • Links
    NCBI Gene ID: 7498
    neXtProt AC: NX_P47989
    UniProt: P47989

  • Chr Location
    2p23.1; chr2:31334321-31414742 (-)  GRCh38
Human Diseases
more
  • Diseases
    8 with human XDH associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 6 alleles in 5 genetic backgrounds
    20 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.
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. Homozygosity for mutations that lock the enzyme into the xanthine oxidase (XO) form leads to increased number of peritoneal macrophages and increased ROS production after their stimulation. This in turn stimulates xenografted tumor growth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    119
  • GO References
    21
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    834
  • Tissues
    116
  • cDNA Data
    105
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22436 NCBI Gene Model | MGI Sequence Detail 66302 C57BL/6J ±  kb
    transcript NR_189051 RefSeq | MGI Sequence Detail 6049 C57BL/6  
    polypeptide Q00519 UniProt | EBI | MGI Sequence Detail 1335 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000017477 xanthine dehydrogenase/oxidase
      (term hierarchy)
    • EC
      1.17.1.4, 1.17.3.2
    • InterPro Domains
      IPR002888 [2Fe-2S]-binding
      IPR036884 [2Fe-2S]-binding domain superfamily
      IPR006058 2Fe-2S ferredoxin, iron-sulphur binding site
      IPR036010 2Fe-2S ferredoxin-like superfamily
      IPR001041 2Fe-2S ferredoxin-type iron-sulfur binding domain
      IPR000674 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
      IPR036856 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead superfamily
      IPR008274 Aldehyde oxidase/xanthine dehydrogenase, first molybdopterin binding domain
      IPR016208 Aldehyde oxidase/xanthine dehydrogenase-like
      IPR037165 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding domain superfamily
      IPR046867 Aldehyde oxidase/xanthine dehydrogenase, second molybdopterin binding domain
      IPR012675 Beta-grasp domain superfamily
      IPR005107 CO dehydrogenase flavoprotein, C-terminal
      IPR036683 CO dehydrogenase flavoprotein, C-terminal domain superfamily
      IPR016166 FAD-binding domain, PCMH-type
      IPR036318 FAD-binding, type PCMH-like superfamily
      IPR016167 FAD-binding, type PCMH, subdomain 1
      IPR016169 FAD-binding, type PCMH, subdomain 2
      IPR002346 Molybdopterin dehydrogenase, FAD-binding
      IPR022407 Oxidoreductase, molybdopterin binding site
      IPR014309 Xanthine dehydrogenase, molybdopterin binding subunit
      IPR014307 Xanthine dehydrogenase, small subunit
    • GlyGen
      Q00519 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 124
      Genomic 11
      cDNA 108
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15471, MGD-MRK-15798, MGD-MRK-15799
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 7
      Gene Ontology 21
      Phenotypes 20
    • Earliest
      J:297524 Lee PC, Developmental changes of adenosine deaminase, xanthine oxidase, and uricase in mouse tissues. Dev Biol. 1973 Apr;31(2):227-33
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory