XDH xanthine dehydrogenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: XDHprovided by HGNC
Official Full Name: xanthine dehydrogenaseprovided by HGNC
Primary source: HGNC:HGNC:12805
See related: Ensembl:ENSG00000158125 MIM:607633; AllianceGenome:HGNC:12805
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: XO; XOR; XAN1
Summary: Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]
Expression: Biased expression in small intestine (RPKM 24.3), duodenum (RPKM 21.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.1

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (31334321..31414742, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (31378697..31459436, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (31557187..31637608, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overnight changes in uric acid, xanthine oxidoreductase and oxidative stress levels and their relationships with sleep-disordered breathing in patients with coronary artery disease.
Title: Overnight changes in uric acid, xanthine oxidoreductase and oxidative stress levels and their relationships with sleep-disordered breathing in patients with coronary artery disease.
Natural mutations of human XDH promote the nitrite (NO2[-])-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?
Title: Natural mutations of human XDH promote the nitrite (NO(2)(-))-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?
Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.
Title: Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.
The clinical value of serum xanthine oxidase levels in patients with acute ischemic stroke.
Title: The clinical value of serum xanthine oxidase levels in patients with acute ischemic stroke.
XDH genotypes through gene-gene interactions with NUDT15 affect azathioprine-induced leukopenia in Chinese patients.
Title: XDH genotypes through gene-gene interactions with NUDT15 affect azathioprine-induced leukopenia in Chinese patients.
Possible role of insulin resistance in activation of plasma xanthine oxidoreductase in health check-up examinees.
Title: Possible role of insulin resistance in activation of plasma xanthine oxidoreductase in health check-up examinees.
Racial Differences in XO (Xanthine Oxidase) and Mitochondrial DNA Damage-Associated Molecular Patterns in Resistant Hypertension.
Title: Racial Differences in XO (Xanthine Oxidase) and Mitochondrial DNA Damage-Associated Molecular Patterns in Resistant Hypertension.
Association of Plasma Xanthine Oxidoreductase with Arterial Stiffness in Type 2 Diabetes with Liver Dysfunction.
Title: Association of Plasma Xanthine Oxidoreductase with Arterial Stiffness in Type 2 Diabetes with Liver Dysfunction.
Relationship between xanthine oxidase gene polymorphisms and anti-tuberculosis drug-induced liver injury in a Chinese population.
Title: Relationship between xanthine oxidase gene polymorphisms and anti-tuberculosis drug-induced liver injury in a Chinese population.
Purine-Induced IFN-gamma Promotes Uric Acid Production by Upregulating Xanthine Oxidoreductase Expression.
Title: Purine-Induced IFN-γ Promotes Uric Acid Production by Upregulating Xanthine Oxidoreductase Expression.

Submit: New GeneRIF Correction See all GeneRIFs (121)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary xanthinuria type 1 MedGen: C0268118 OMIM: 278300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-173237 (e-PCR)
- UniSTS:185345

XDH (e-PCR)
- UniSTS:505094

D2S2203 (e-PCR), detects polymorphism
- UniSTS:5131

WI-11213 (e-PCR)
- UniSTS:47400

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

L18426 (e-PCR)
- UniSTS:34648

XDH_7904 (e-PCR)
- UniSTS:466561

SHGC-12567 (e-PCR)
- UniSTS:11995

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IDA Inferred from Direct Assay more info	PubMed
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables hypoxanthine dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables hypoxanthine oxidase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables molybdopterin cofactor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables xanthine dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables xanthine dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables xanthine oxidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in IMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in allantoin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dAMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dGMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in deoxyadenosine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in deoxyguanosine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in deoxyinosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in guanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in hypoxanthine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in iron-sulfur cluster assembly	IEA Inferred from Electronic Annotation more info
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular endothelial growth factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vasculogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of p38MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xanthine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xanthine catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: xanthine dehydrogenase/oxidase

Names: xanthine oxidoreductase

NP_000370.2

EC 1.17.1.4

EC 1.17.3.2

XP_011531397.1

EC 1.17.1.4

EC 1.17.3.2

XP_011531398.1

EC 1.17.1.4

EC 1.17.3.2

XP_054199746.1

EC 1.17.1.4

EC 1.17.3.2

XP_054199747.1

EC 1.17.1.4

EC 1.17.3.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008871.2 RefSeqGene

Range

5004..85425

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000379.4 → NP_000370.2 xanthine dehydrogenase/oxidase

See identical proteins and their annotated locations for NP_000370.2

Status: REVIEWED

Source sequence(s)

AL121654, AL121657, CV574002, D11456

Consensus CDS

CCDS1775.1

UniProtKB/Swiss-Prot

P47989, Q16681, Q16712, Q4PJ16

UniProtKB/TrEMBL

A0AA96C912

Related

ENSP00000368727.3, ENST00000379416.4

Conserved Domains (1) summary

PLN02906
Location:23 → 1319

PLN02906; xanthine dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

31334321..31414742 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533095.3 → XP_011531397.1 xanthine dehydrogenase/oxidase isoform X1

UniProtKB/TrEMBL

A0AA96C912

Conserved Domains (6) summary

PLN02906
Location:23 → 1318

PLN02906; xanthine dehydrogenase

pfam00941
Location:232 → 412

FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase

pfam01315
Location:587 → 693

Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain

pfam01799
Location:87 → 158

Fer2_2; [2Fe-2S] binding domain

pfam02738
Location:713 → 1236

Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase

pfam03450
Location:419 → 523

CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain
XM_011533096.3 → XP_011531398.1 xanthine dehydrogenase/oxidase isoform X2

Conserved Domains (1) summary

PLN02906
Location:23 → 1049

PLN02906; xanthine dehydrogenase