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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
  • Alliance
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
    UniProt: P47989

  • Chr Location
    2p23.1; chr2:31334320-31414777 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human XDH associations

Human Disease Mouse Models
      
IDs
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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      492 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000017477 xanthine dehydrogenase/oxidase
    • EC
    • 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
      IPR016208 Aldehyde oxidase/xanthine dehydrogenase
      IPR000674 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
      IPR036856 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead superfamily
      IPR008274 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding
      IPR037165 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding domain superfamily
      IPR005107 CO dehydrogenase flavoprotein, C-terminal
      IPR036683 CO dehydrogenase flavoprotein, C-terminal domain superfamily
      IPR016166 FAD-binding, type 2
      IPR036318 FAD-binding, type 2-like superfamily
      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 123
      Genomic 11
      cDNA 107
      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 62
      Developmental Gene Expression 6
      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:246225 Lastra G, et al., Xanthine oxidase inhibition protects against Western diet-induced aortic stiffness and impaired vasorelaxation in female mice. Am J Physiol Regul Integr Comp Physiol. 2017 Aug 01;313(2):R67-R77

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory