XDH (xanthine dehydrogenase)

2008-07-01  

Identity

HGNC
XDH
LOCATION
2p23.1
LOCUSID
7498
ALIAS
XAN1,XO,XOR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7498
MIM: 607633
HGNC: 12805
Ensembl: ENSG00000158125

Variants:

dbSNP: 7498
ClinVar: 7498
TCGA: ENSG00000158125
COSMIC: XDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158125ENST00000379416P47989

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Caffeine metabolismKEGGko00232
Drug metabolism - other enzymesKEGGko00983
Purine metabolismKEGGhsa00230
Caffeine metabolismKEGGhsa00232
Drug metabolism - other enzymesKEGGhsa00983
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine catabolismREACTOMER-HSA-74259
Butyrophilin (BTN) family interactionsREACTOMER-HSA-8851680

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
lactating breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165958521febuxostatChemicalPathway, VariantAnnotationassociatedPD24915143, 27798726
PA444318GoutDiseaseVariantAnnotationassociatedPD27798726
PA447230HIVDiseaseClinicalAnnotationassociatedPD23315321
PA448320allopurinolChemicalPathway, VariantAnnotationassociatedPD24915143, 27798726
PA449301didanosineChemicalClinicalAnnotationassociatedPD23315321
PA451647theophyllineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
367397552023The clinical value of serum xanthine oxidase levels in patients with acute ischemic stroke.8
372586222023Overnight changes in uric acid, xanthine oxidoreductase and oxidative stress levels and their relationships with sleep-disordered breathing in patients with coronary artery disease.2
374151412023Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.1
377137772023Natural mutations of human XDH promote the nitrite (NO(2)(-))-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?0
367397552023The clinical value of serum xanthine oxidase levels in patients with acute ischemic stroke.8
372586222023Overnight changes in uric acid, xanthine oxidoreductase and oxidative stress levels and their relationships with sleep-disordered breathing in patients with coronary artery disease.2
374151412023Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.1
377137772023Natural mutations of human XDH promote the nitrite (NO(2)(-))-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?0
346191442022Association of Plasma Xanthine Oxidoreductase with Arterial Stiffness in Type 2 Diabetes with Liver Dysfunction.2
351541002022Purine-Induced IFN-γ Promotes Uric Acid Production by Upregulating Xanthine Oxidoreductase Expression.5
351645262022Racial Differences in XO (Xanthine Oxidase) and Mitochondrial DNA Damage-Associated Molecular Patterns in Resistant Hypertension.4
357174552022Possible role of insulin resistance in activation of plasma xanthine oxidoreductase in health check-up examinees.3
359161332022XDH genotypes through gene-gene interactions with NUDT15 affect azathioprine-induced leukopenia in Chinese patients.0
346191442022Association of Plasma Xanthine Oxidoreductase with Arterial Stiffness in Type 2 Diabetes with Liver Dysfunction.2
351541002022Purine-Induced IFN-γ Promotes Uric Acid Production by Upregulating Xanthine Oxidoreductase Expression.5

Citation

Dessen P

XDH (xanthine dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50157/xdh-(xanthine-dehydrogenase)