XDH (xanthine dehydrogenase)

2008-07-01 Affiliation

Identity

HGNC

XDH

LOCATION

2p23.1

LOCUSID

7498

ALIAS

XAN1,XO,XOR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000158125	ENST00000379416	P47989

Expression (GTEx)

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

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Caffeine metabolism	KEGG	ko00232
Drug metabolism - other enzymes	KEGG	ko00983
Purine metabolism	KEGG	hsa00230
Caffeine metabolism	KEGG	hsa00232
Drug metabolism - other enzymes	KEGG	hsa00983
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Purine metabolism	REACTOME	R-HSA-73847
Purine catabolism	REACTOME	R-HSA-74259
Butyrophilin (BTN) family interactions	REACTOME	R-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 ID	Name	Type	Evidence	Association	PD	PMIDs
PA165958521	febuxostat	Chemical	Pathway, VariantAnnotation	associated	PD	24915143, 27798726
PA444318	Gout	Disease	VariantAnnotation	associated	PD	27798726
PA447230	HIV	Disease	ClinicalAnnotation	associated	PD	23315321
PA448320	allopurinol	Chemical	Pathway, VariantAnnotation	associated	PD	24915143, 27798726
PA449301	didanosine	Chemical	ClinicalAnnotation	associated	PD	23315321
PA451647	theophylline	Chemical	Pathway	associated

References

Pubmed ID	Year	Title	Citations
19898482	2009	Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.	84
18818408	2008	Mechanisms underlying erythrocyte and endothelial nitrite reduction to nitric oxide in hypoxia: role for xanthine oxidoreductase and endothelial nitric oxide synthase.	54
25800347	2015	Xanthine oxidoreductase regulates macrophage IL1β secretion upon NLRP3 inflammasome activation.	44
25463089	2014	Xanthine oxidoreductase in atherosclerosis pathogenesis: not only oxidative stress.	28
17301077	2007	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.	26
17301077	2007	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.	26
19505917	2009	Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.	21
20346360	2010	Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.	21
23340314	2013	Role of host xanthine oxidase in infection due to enteropathogenic and Shiga-toxigenic Escherichia coli.	20
23892358	2013	Autophagy induced by cathepsin S inhibition induces early ROS production, oxidative DNA damage, and cell death via xanthine oxidase.	20

Citation

Dessen P

XDH (xanthine dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50157/xdh