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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XDH Gene

protein-coding GIFtS: 66
GCID: GC02M031470

xanthine dehydrogenase

(Previous name: xanthene dehydrogenase )

Explore 172 diseases affiliated with
XDH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Xanthine Dehydrogenase¹ ²		Xanthine Oxidase²
XO¹ ²		Xanthine Oxidoreductase²
XOR¹ ²		XDHA³
Xanthene Dehydrogenase¹ ²		EC 1.17.1.4⁸
Xanthine Dehydrogenase/Oxidase²		EC 1.7.2.2⁸

External Ids:	HGNC: 12805¹	Entrez Gene: 7498²	Ensembl: ENSG00000158125⁷	OMIM: 607633⁵	UniProtKB: P47989³

Export aliases for XDH gene to outside databases

Previous GC identifers: GC02M031482 GC02M031665 GC02M031533 GC02M031410 GC02M031294

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XDH:

Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism

of purines. The enzyme is a homodimer. 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, Jul 2008)

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989

Function: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the

oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase

activity towards aldehydes (in vitro)

Gene Wiki entry for XDH (Xanthine dehydrogenase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the XDH gene promoter:
c-Fos NF-1 p53 AP-1 ATF-2 SRY STAT3 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XDH promoter sequence

Search SABiosciences Chromatin IP Primers for XDH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XDH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.1 Ensembl cytogenetic band: 2p23.1 HGNC cytogenetic band: 2p23.1

XDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XDH gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M031470: view genomic region (about GC identifiers)

Start:	31,557,187 bp from pter	End:	31,637,611 bp from pter
Size:	80,425 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989 (See protein sequence)

Recommended Name: Xanthine dehydrogenase/oxidase

Size: 1333 amino acids; 146424 Da

Cofactor: Binds 2 2Fe-2S clusters

Cofactor: FAD

Cofactor: Binds 1 molybdenum ion (molybdopterin) per subunit

Subunit: Homodimer. Interacts with BTN1A1 (By similarity)

Subcellular location: Cytoplasm (By similarity). Peroxisome (By similarity). Secreted

2 PDB 3D structures from and Proteopedia for XDH:

2CKJ (3D)

2E1Q (3D)

Secondary accessions: Q16681 Q16712 Q4PJ16

Explore the universe of human proteins at neXtProt for XDH: NX_P47989

Post-translational modifications:

Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O) (By

similarity)¹

Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D)

to the oxidase form (O) (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P47989

4/5 DME Specific Peptides for XDH (P47989) (see all 5)

QEHFYLE

LKAQHPD

AKLVVGNTE

RCMLDRDEDM

XDH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000370.2

ENSEMBL proteins:

ENSP00000368727

Reactome Protein details: P47989
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for XDH

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005777	peroxisome	IEA	--
GO:0005829	cytosol	TAS	--

XDH for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for XDH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

XDH for domains About GeneDecksing

5/14 InterPro domains/families (see all 14):

IPR016208 Ald_Oxase/xanthine_DH

IPR001041 2Fe-2S_ferredoxin-type

IPR002346 Mopterin_DH_FAD-bd

IPR012675 Beta-grasp_dom

IPR014307 Xanthine_DH_ssu

Graphical View of Domain Structure for InterPro Entry P47989

ProtoNet protein and cluster: P47989

5/6 Blocks protein families (see all 6):

IPB000674 Aldehyde oxidase and xanthine dehydrogenase

IPB001041 Ferredoxin

IPB002346 Molybdopterin dehydrogenase

IPB002888 [2Fe-2S]-binding

IPB005107 CO dehydrogenase flavoprotein C-terminal domain

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989

Similarity: Belongs to the xanthine dehydrogenase family

Similarity: Contains 1 2Fe-2S ferredoxin-type domain

Similarity: Contains 1 FAD-binding PCMH-type domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989

Function: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the

oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase

activity towards aldehydes (in vitro)

Catalytic activity: Hypoxanthine + NAD(+) + H(2)O = xanthine + NADH

Catalytic activity: Xanthine + H(2)O + O(2) = urate + H(2)O(2)

Enzyme regulation: Can be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by proteolysis

or reversibly through the oxidation of sulfhydryl groups (By similarity)

Genatlas biochemistry entry for XDH:

xanthine oxidase (dehydrogenase),catalyzing the oxidation of hypoxanthine to purine and purine to uric acid,adenine

nucleotide catalytic pathway

Enzyme Numbers (IUBMB): EC 1.7.2.2² EC 1.17.1.4²

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		hsa-miR-411* hsa-miR-579 hsa-miR-3128 hsa-miR-582-3p hsa-miR-448 hsa-miR-379* hsa-miR-3660 hsa-miR-491-3p

		SwitchGear 3'UTR luciferase reporter plasmid: XDH 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XDH

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004854	xanthine dehydrogenase activity	IDA	8670112
GO:0004855	xanthine oxidase activity	IDA	8670112
GO:0005506	iron ion binding	IEA	--
GO:0005515	protein binding	--	--
GO:0008762	UDP-N-acetylmuramate dehydrogenase activity	IEA	--

XDH for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Xdh^tm1Fink for XDH
     10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Xdh):

adipose tissue	cellular	endocrine/exocrine gland	growth/size	homeostasis/metabolism
immune system	integument	mortality/aging	muscle	renal/urinary system

XDH for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Purine metabolism

	Purine metabolism	1.00			Purine catabolism	0.30
	Metabolism of nucleotides	0.42

Caffeine Pathway, Pharmacokinetics

	Caffeine Pathway, Pharmacokinetics	1.00			Caffeine metabolism	0.36
	Theophylline Pathway, Pharmacokinetics	0.50

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway, Pharmacokinetics

1.00

Doxorubicin Pathway (Cancer Cell), Pharmacodynamics

0.43

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for XDH

Retinol metabolism

1 GeneGo (Thomson Reuters) Pathway for XDH

Retinol metabolism

2 BioSystems Pathways for XDH

	Selenium Pathway
	Oxidative Stress

4 Reactome Pathways for XDH

	Metabolism of nucleotides
	Metabolism
	Purine catabolism
	Purine metabolism

5 PharmGKB Pathways for XDH

	Antigout Preparations Pathway, Pharmacodynamics
	Caffeine Pathway, Pharmacokinetics
	Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
	Doxorubicin Pathway, Pharmacokinetics
	Theophylline Pathway, Pharmacokinetics

5 Kegg Pathways (Kegg details for XDH):

	Purine metabolism
	Caffeine metabolism
	Drug metabolism - other enzymes
	Metabolic pathways
	Peroxisome

XDH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for XDH

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for XDH (P47989³ ENSP00000368727⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FEN1	P39748³, ENSP00000305480⁴	I2D: score=4 STRING: ENSP00000305480
BTN1A1	Q13410³, ENSP00000244513⁴	I2D: score=1 STRING: ENSP00000244513
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
CAT	ENSP00000241052⁴	STRING: ENSP00000241052
CYP1A2	ENSP00000342007⁴	STRING: ENSP00000342007

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001933	negative regulation of protein phosphorylation	IDA	18386220
GO:0001937	negative regulation of endothelial cell proliferation	IDA	18386220
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006195	purine nucleotide catabolic process	TAS	--
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	18386220

XDH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

XDH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for XDH available from Tocris Bioscience About this table

Compound	Action	CAS #
Febuxostat	Xanthine oxidase inhibitor	[144060-53-7]

10/24 HMDB Compounds for XDH (see all 24) About this table

Compound	Synonyms	CAS #	PubMed Ids
5-Hydroxypyrazinamide	2-Carboxamido-5-hydroxypyrazine (see all 3)	13924-96-4	3663245
Adenine	1,6-Dihydro-6-iminopurine (see all 19)	73-24-5	18039602
1,7-Dimethyluric acid		--	--
1-Methyluric acid	1-Methylurate	708-79-2	--
1-Methylxanthine		--	--
3,7-Dimethyluric acid	3,7-Dimethyl-2,6,8-trihydroxypurine (see all 2)	13087-49-5	--
7-Methyluric acid		--	--
7-Methylxanthine	Methylxanthine (see all 8)	552-62-5	--
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Hydrogen peroxide	Hydrogen peroxide (see all 44)	7722-84-1	--

10/22 DrugBank Compounds for XDH (see all 22) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Allopurinol	Allopurinol Sodium (see all 3)	315-30-0	target	inhibitor	19436671 18409526 19376361 19654053 19584965 5415686 12184468 11752352 16507884 20029618 20046204
Allopurinol	Allopurinol Sodium (see all 3)	315-30-0	enzyme	substrate	19436671 18409526 19376361 19654053 19584965 5415686 12184468 11752352 16507884 20029618 20046204 8216357
Carboplatin	CBDCA (see all 2)	41575-94-4	enzyme	inducer	11520631 14555405 12420797 15225673
Cisplatin	Cis-DDP (see all 4)	15663-27-1	enzyme	inducer	16158393 15986578 19818462
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235
dioxothiomolybdenum(VI) ion	--	--	target	--	17139284 17016423 10592235
Daunorubicin	--	20830-81-3	enzyme	substrate	9212777 9367530
NADH	beta-DPNH (see all 18)	606-68-8	enzyme	substrate	21361328 19450565
Nitrofurazone	NFZ (see all 2)	59-87-0	enzyme	substrate	952514 6585203
Trifluoperazine	Trifluoperazin (see all 13)	117-89-5	enzyme	conversion inhibitor	8483075 8304479
4-[5-Pyridin-4-Yl-1h-[1,2,4]Triazol-3-Yl]-Pyridine-2-Carbonitrile	--	--	target	--	10592235

10/155 Novoseek chemical compound relationships for XDH gene (see all 155) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xanthine	99.2	5994	8038267 (10), 2170383 (10), 9023782 (9), 17906999 (8) (see all 99)
hypoxanthine	94	461	2260639 (6), 16099821 (5), 9558291 (4), 7654490 (4) (see all 99)
allopurinol	94	374	16650385 (7), 19794315 (4), 10027663 (3), 18215719 (3) (see all 99)
superoxide	91.6	996	13678240 (5), 16650385 (5), 12911273 (5), 14738912 (4) (see all 99)
oxypurinol	90.8	88	16650385 (6), 8730975 (4), 15139781 (3), 16214034 (2) (see all 57)
febuxostat	89.6	51	15571211 (3), 16022578 (2), 19448587 (2), 19075968 (2) (see all 33)
2-hydroxy-6-methylpurine	89.5	10	18063585 (2), 11330474 (2), 11456936 (2), 8385992 (1) (see all 6)
uric acid	87.7	359	8922344 (6), 19933411 (6), 8134172 (4), 8572327 (4) (see all 99)
molybdenum	84.6	126	8302261 (5), 7642590 (5), 11602591 (3), 11302742 (3) (see all 78)
h2o2	84.4	430	1646751 (9), 9801073 (5), 8572327 (5), 7762682 (4) (see all 99)

Search CenterWatch for drugs/clinical trials and news about XDH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for XDH gene:

NM_000379.3

Unigene Cluster for XDH:

Xanthine dehydrogenase

Hs.250 [show with all ESTs]

Unigene Representative Sequence: NM_000379

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000379416(uc002rnv.1) ENST00000491727 ENST00000476043

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		SwitchGear 3'UTR luciferase reporter plasmid: XDH 3' UTR sequence

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Additional cDNA sequence:

D11456.2 U06117.1 U39487.1

3 DOTS entries:

DT.309418 DT.100747324 DT.40219821

24/38 AceView cDNA sequences (see all 38):

D11456 U39487 AA588742 CR614711 AA386219 AA877996 AI580045 U06117

CD238871 BM969390 AA584403 AL709033 BG617489 CD238503 BV183408 AW444632

AK130114 BP382907 AL552489 BX350215 CD239432 NM_000379 AW081071 BF105280

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XDH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

XDH expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Heart

Myocardium

Mature Cardiac Fibroblasts

Epicardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See XDH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XDH

SOURCE GeneReport for Unigene cluster: Hs.250

UniProtKB/Swiss-Prot: XDH_HUMAN, P47989

Tissue specificity: Detected in milk (at protein level)

SABiosciences Expression via Pathway-Focused PCR Arrays including XDH:

Endothelial Cell Biology in human mouse rat

Drug Metabolism: Phase II Enzymes in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Drug Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XDH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for XDH gene from 9/35 species (see all 35) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	XDH¹	xanthine dehydrogenase	71.79(n) 73.78(a)		396025 NM_205127.1 NP_990458.1
lizard (Anolis carolinensis)	Reptilia	XDH⁶	--	73(a)	1 ↔ 1	1(250635454-250698915)
African clawed frog (Xenopus laevis)	Amphibia	BJ616150.1²	--	74.48(n)		BJ616150.1
zebrafish (Danio rerio)	Actinopterygii	xdh¹	xanthine dehydrogenase	66.79(n) 69.09(a)		560486 XM_683891.3 XP_688983.3
fruit fly (Drosophila melanogaster)	Insecta	ry^{1 , 3}	xanthine dehydrogenase³ rosy¹	52(a) (best of 5)³ 56.88(n)¹ 52.72(a)¹		3 87D9³ 41605¹ NM_079613.2¹ NP_524337.1¹
worm (Caenorhabditis elegans)	Secernentea	F55B11.1^{1 , 3}	xanthine dehydrogenase³ Protein F55B11.1¹	47(a) (best of 3)³ 51.73(n)¹ 48.93(a)¹		IV(14401351-14413053)³ 178381¹ NM_070346.2¹ NP_502747.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	XDH1¹	xanthine dehydrogenase 1	53.09(n) 49.69(a)		829641 NM_119655.3 NP_195215.2
rice (Oryza sativa)	Liliopsida	Os.10786²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	73.23(n)		AK067814.1
E. coli (Escherichia coli)	Gamma proteobacteria	xdhC⁶ paoA⁶ (see all 5)	PaoABC aldehyde oxidoreductase, 2Fe-2S subunit (see all 5)	35(a) 26(a) (see all 5)	possible ortholog possible ortholog (see all 5)	Chromosome(3001511-3001990) Chromosome(301108-301797)

ENSEMBL Gene Tree for XDH (if available)
TreeFam Gene Tree for XDH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for XDH gene

AOX1²

1 SIMAP similar gene for XDH using alignment to 2 protein entries: XDH_HUMAN (see all proteins):

AOX1

XDH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72549369^1,2	C	pathogenic	31358823(-)	`TGTGCC/TGCTGC`	2	R C	mis¹		0	--	--	--	--
rs147476468^1,2	C,F	other	31336294(+)	`GTCTTC/TCAGGT`	2	K E	mis¹		1		NA	4552
rs77402249^1,2		--	31294567(+)	`TCTACT/GCTCAC`	1	--	ds500¹		2		CSA WA	120
rs11695571^1,2	C,F,H	--	31294581(+)	`GGTACC/ATAAGC`	1	--	ds500¹		1		NA	6
rs73922345^1,2	C,	--	31294983(+)	`TGGCCG/AGAACC`	1	--	ut3¹		1		WA	2
rs60405644^1,2	C	--	31295557(+)	`CAAATG/TATCTC`	1	--	ut3¹		1		WA	2
rs45456093^1,2	C,	--	31295630(-)	`AAAAAA/TTTTTT`	1	--	ut3¹		5		NS	164
rs45532535^1,2	C,F,	--	31295664(-)	`CAGCCT/CGGGCA`	1	--	ut3¹		6		NS WA	282
rs111248199^1,2		--	31295846(+)	`GGAATG/ACAAAT`	1	--	ut3¹		1		CSA	2
rs2295474^1,2	C,F,H	--	31296589(+)	`TGACAC/TACTAG`	2	Y C	mis¹ ese³		8		EA NS NA	2258

HapMap Linkage Disequilibrium report for XDH (31557187 - 31637611 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for XDH
1 Indel: 97800
Human Gene Mutation Database (HGMD): XDH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XDH

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

XDH for disorders           About GeneDecksing

OMIM gene information: 607633
OMIM disorders: 278300
UniProtKB/Swiss-Prot: XDH_HUMAN, P47989

Defects in XDH are the cause of xanthinuria type 1 (XU1) [MIM:278300]. Xanthinuria is characterized by

excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is

strikingly diminished in serum and urine. XU1 is due to isolated xanthine dehydrogenase. XU1 patients can metabolize

allopurinol

20/172 diseases for XDH (see all 172): About MalaCards

xanthinuria molybdenum cofactor deficiency lesch-nyhan syndrome molybdenum cofactor deficiency, type a

adenine phosphoribosyltransferase deficiency mild pre-eclampsia sulfite oxidase deficiency ruptured abdominal aortic aneurysm

pre-eclampsia abdominal aortic aneurysm hypoplastic left heart syndrome leber hereditary optic neuropathy

retinol binding protein dupuytren contracture adult respiratory distress syndrome xanthinuria type 1

amyotrophic lateral sclerosis aortic aneurysm hypouricemia gonadal dysgenesis

2 diseases from the University of Copenhagen DISEASES database for XDH:

Hyperuricemia Primary amebic meningoencephalitis

10/94 Novoseek disease relationships for XDH gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xanthinuria, type i	90.4	30	7667222 (4), 8976115 (2), 2379312 (1), 10844591 (1) (see all 19)
xanthinuria	89.2	31	2379312 (4), 10844591 (4), 12670960 (2), 7829092 (2) (see all 17)
molybdenum cofactor deficiency	84.8	20	8812740 (2), 9634514 (1), 12385777 (1), 7474893 (1) (see all 15)
hyperuricemia	79.2	35	16022578 (2), 20109996 (2), 19075968 (2), 18409526 (1) (see all 26)
gout	75.6	47	16022578 (2), 20109996 (2), 19075968 (2), 15751090 (2) (see all 33)
xanthinuria, type ii	72.9	3	11302742 (2), 17368066 (1)
hypouricemia	62.6	4	8976110 (1), 14624414 (1), 1912172 (1)
cell damage	62.5	33	2390135 (2), 9928765 (2), 15853750 (1), 16602626 (1) (see all 21)
oxidase deficiency	62.1	1	15025809 (1)
lesch-nyhan syndrome	50.9	1	8976090 (1)

Genatlas disease: XDH

xanthinuria type I

Human Genome Epidemiology (HuGE) Navigator: XDH (16 documents)

Export disorders for XDH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for XDH gene, integrated from 9 sources (see all 1735):
(articles sorted by number of sources associating them with XDH)

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Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. (PubMed id 8224915)^{1, 2, 3} Ichida K.... Nishino T. (1993)
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. (PubMed id 17301077)^{1, 2, 9} Yamaguchi Y.... Nishino T. (2007)
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (PubMed id 9153281)^{1, 2, 9} Ichida K....Sakai O. (1997)
Cloning and expression in vitro of human xanthine dehydrogenase/oxidase. (PubMed id 8670112)^{1, 2} Saksela M. and Raivio K.O. (1996)
Molecular cloning, tissue expression of human xanthine dehydrogenase. (PubMed id 7575623)^{1, 2} Xu P....Hoidal J.R. (1995)
Molecular cloning, tissue expression of human xanthine dehydrogenase. (PubMed id 8135849)^{1, 2} Xu P.... Hoidal J.R. (1994)
Comparison of oxygen radical generation from the reductive activation of doxorubicin, streptonigrin, and menadione by xanthine oxidase and xanthine dehydrogenase. (PubMed id 9367530)^{7, 9} Yee S.B. and Pritsos C.A. (1997)
Migratory activity of human breast cancer cells is modulated by differential expression of xanthine oxidoreductase. (PubMed id 18767115)^{1, 9} Fini M.A....Wright R.M. (2008)
Xanthine oxidoreductase and xanthine oxidase in human cornea. (PubMed id 12168784)^{1, 9} Cejkova J....Midelfart A. (2002)
Decreased xanthine oxidoreductase is a predictor of poor prognosis in early-stage gastric cancer. (PubMed id 16935971)^{1, 9} Linder N....Lundin J. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7498	HGNC: 12805	AceView: XDH	Ensembl:ENSG00000158125	euGenes: HUgn7498
ECgene: XDH	Kegg: 7498	H-InvDB: XDH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for XDH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XDH
NIEHS-SNPs	http://egp.gs.washington.edu/data/xdh/

Intellectual Property for XDH gene
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Patent Information for XDH gene:
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xanthine dehydrogenase

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