Gene Gene information from NCBI Gene database.
Entrez ID 7498
Gene name Xanthine dehydrogenase
Gene symbol XDH
Synonyms (NCBI Gene)
XAN1XOXOR
Chromosome 2
Chromosome location 2p23.1
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 f
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs72549369 G>A Pathogenic Coding sequence variant, missense variant
rs119460972 G>A,C,T Pathogenic Synonymous variant, stop gained, coding sequence variant, missense variant
rs148412639 C>G,T Likely-pathogenic, conflicting-interpretations-of-pathogenicity Splice donor variant
rs376882470 C>G,T Likely-pathogenic Splice donor variant
rs760186813 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT028928 hsa-miR-26b-5p Microarray 19088304
MIRT756459 hsa-miR-199a-5p Luciferase reporter assayqRT-PCR 36920714
MIRT1495289 hsa-miR-103b CLIP-seq
MIRT1495290 hsa-miR-1178 CLIP-seq
MIRT1495291 hsa-miR-1184 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000255 Process Allantoin metabolic process IDA 1619276
GO:0000255 Process Allantoin metabolic process IEA
GO:0004854 Function Xanthine dehydrogenase activity IBA
GO:0004854 Function Xanthine dehydrogenase activity IDA 8670112
GO:0004854 Function Xanthine dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607633 12805 ENSG00000158125
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P47989
Protein name Xanthine dehydrogenase/oxidase [Includes: Xanthine dehydrogenase (XD) (EC 1.17.1.4); Xanthine oxidase (XO) (EC 1.17.3.2) (Xanthine oxidoreductase) (XOR)]
Protein 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 (i
PDB 2CKJ , 2E1Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00111 Fer2 8 78 2Fe-2S iron-sulfur cluster binding domain Domain
PF01799 Fer2_2 87 161 [2Fe-2S] binding domain Domain
PF00941 FAD_binding_5 228 412 FAD binding domain in molybdopterin dehydrogenase Family
PF03450 CO_deh_flav_C 419 523 CO dehydrogenase flavoprotein C-terminal domain Domain
PF01315 Ald_Xan_dh_C 588 694 Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain Domain
PF02738 Ald_Xan_dh_C2 699 1237 Molybdopterin-binding domain of aldehyde dehydrogenase Family
Tissue specificity TISSUE SPECIFICITY: Detected in milk (at protein level). {ECO:0000269|Ref.12}.
Sequence
MTADKLVFFVNGRKVVEKNADPETTLLAYLRRKLGLSGTKLGCGEGGCGACTVMLSKYDR
LQNKIVHFSANACLAPIC
SLHHVAVTTVEGIGSTKTRLHPVQERIAKSHGSQCGFCTPGI
VMSMYTLLRNQPEPTMEEIENAFQGNLCRCTGYRPILQGFR
TFARDGGCCGGDGNNPNCC
MNQKKDHSVSLSPSLFKPEEFTPLDPTQEPIFPPELLRLKDTPRKQLRFEGERVTWIQAS
TLKELLDLKAQHPDAKLVVGNTEIGIEMKFKNMLFPMIVCPAWIPELNSVEHGPDGISFG
AACPLSIVEKTLVDAVAKLPAQKTEVFRGVLEQLRWFAGKQVKSVASVGGNIITASPISD
LNPVFMASGAKLTLVSRGTRRTVQMDHTFFPGYRKTLLSPEEILLSIEIPYS
REGEYFSA
FKQASRREDDIAKVTSGMRVLFKPGTTEVQELALCYGGMANRTISALKTTQRQLSKLWKE
ELLQDVCAGLAEELHLPPDAPGGMVDFRCTLTLSFFFKFYLTV
LQKLGQENLEDKCGKLD
PTFASATLLFQKDPPADVQLFQEVPKGQSEEDMVGRPLPHLAADMQASGEAVYCDDIPRY
ENELSLRLVTSTRAHAKIKSIDTSEAKKVPGFVCFISADDVPGSNITGICNDETVFAKDK
VTCVGHIIGAVVADTPEHTQRAAQGVKITYEELP
AIITIEDAIKNNSFYGPELKIEKGDL
KKGFSEADNVVSGEIYIGGQEHFYLETHCTIAVPKGEAGEMELFVSTQNTMKTQSFVAKM
LGVPANRIVVRVKRMGGGFGGKETRSTVVSTAVALAAYKTGRPVRCMLDRDEDMLITGGR
HPFLARYKVGFMKTGTVVALEVDHFSNVGNTQDLSQSIMERALFHMDNCYKIPNIRGTGR
LCKTNLPSNTAFRGFGGPQGMLIAECWMSEVAVTCGMPAEEVRRKNLYKEGDLTHFNQKL
EGFTLPRCWEECLASSQYHARKSEVDKFNKENCWKKRGLCIIPTKFGISFTVPFLNQAGA
LLHVYTDGSVLLTHGGTEMGQGLHTKMVQVASRALKIPTSKIYISETSTNTVPNTSPTAA
SVSADLNGQAVYAACQTILKRLEPYKKKNPSGSWEDWVTAAYMDTVSLSATGFYRTPNLG
YSFETNSGNPFHYFSYGVACSEVEIDCLTGDHKNLRTDIVMDVGSSLNPAIDIGQVEGAF
VQGLGLFTLEELHYSPEGSLHTRGPSTYKIPAFGSIP
IEFRVSLLRDCPNKKAIYASKAV
GEPPLFLAASIFFAIKDAIRAARAQHTGNNVKELFRLDSPATPEKIRNACVDKFTTLCVT
GVPENCKPWSVRV
Sequence length 1333
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Caffeine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
Peroxisome
  Purine catabolism
Butyrophilin (BTN) family interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
906
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary xanthinuria type 1 Pathogenic; Likely pathogenic rs772878388, rs1021978271, rs1281159761, rs758748687, rs72549367, rs778685046, rs119460972, rs1572530443, rs72549369, rs1463907198, rs748879270, rs2465401546, rs1195394908, rs2465394635, rs1553411468
View all (4 more)
RCV001328532
RCV005028165
RCV001535866
RCV003338011
RCV002503437
RCV002484804
RCV000003088
RCV000003089
RCV000003090
RCV003485837
RCV005014758
RCV003989241
RCV004547340
RCV004555442
RCV000609125
RCV002485596
RCV002507228
RCV000786985
RCV001535951
Xanthinuria type II Likely pathogenic; Pathogenic rs1021978271, rs2148776171, rs2148755274, rs72549367, rs2147994449, rs764196019, rs1383065231, rs778685046, rs119460972, rs1408237135, rs1463907198, rs2465297906, rs777123723, rs751921838, rs748879270
View all (8 more)
RCV003071300
RCV001388890
RCV001990585
RCV001894883
RCV001993266
RCV002016721
RCV002043379
RCV001949331
RCV001383575
RCV003053054
RCV003110849
RCV002839504
RCV002944197
RCV001387749
RCV003593200
RCV003591290
RCV003591310
RCV003755982
RCV003756603
RCV000686047
RCV000702611
RCV000691786
RCV000794280
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs113335263, rs45557040, rs45451795, rs17323225 RCV005916154
RCV005916278
RCV005920092
RCV005896165
Cholangiocarcinoma Likely benign; Benign rs113335263, rs45612839 RCV005916160
RCV005896171
Colon adenocarcinoma Benign; Likely benign rs17323225 RCV005896163
Colorectal cancer Benign; Likely benign rs17323225 RCV005896166
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 22678977, 36778128
Alcoholism Stimulate 28839105
Aneuploidy Associate 16935971
Breast Neoplasms Associate 16935971, 23443115, 25416100
Carcinoma Renal Cell Associate 35693733
Cardiovascular Abnormalities Associate 37415141
Cerebral Infarction Associate 38228698
Cerebrovascular Disorders Associate 19175688
Colonic Neoplasms Associate 34564978
Diabetes Mellitus Stimulate 19175688