XDH (xanthine dehydrogenase)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7498 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Xanthine dehydrogenase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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XDH |
SynonymsGene synonyms aliases
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XAN1, XO, XOR |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p23.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs773456900 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1172253757 |
C>A,G |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
rs1553411468 |
G>C |
Likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs1558674294 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
rs1572530443 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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
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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 |
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Sequence |
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Sequence length |
1333 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
15205966 |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 |
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Carcinoma |
Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
12376462 |
Myocardial infarction |
Myocardial Failure |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
19933411 |
Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 |
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Xanthinuria |
Xanthinuria, Xanthinuria, Type I, Xanthinuria, Type II, Xanthinuria type I |
rs119460972, rs142150953, rs886037854, rs750896617, rs886037855, rs751921838, rs376882470, rs760186813, rs1558674294, rs773456900 |
10844591, 14551354, 9153281, 11379872, 9153281 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
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28196072 |
Anaplastic carcinoma |
Anaplastic carcinoma |
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12376462 |
Cerebral infraction |
Infarction, Middle Cerebral Artery |
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12374626 |
Cerebral thrombosis |
Middle Cerebral Artery Thrombosis |
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12374626 |
Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
19933411 |
Gout |
Gout |
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29071757 |
Heart diseases |
Heart Diseases |
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17217956 |
Heart failure |
Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided |
rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 |
19933411 |
Hydronephrosis |
Hydronephrosis |
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Hyperuricemia |
Hyperuricemia |
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29071757 |
Involutional depression |
Involutional Depression |
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20471444 |
Involutional paraphrenia |
Involutional paraphrenia |
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20471444 |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
20471444 |
Psychosis |
Psychosis, Involutional |
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20471444 |
Pulmonary thromboembolism |
Pulmonary Thromboembolisms |
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2510358 |
Pyelonephritis |
Pyelonephritis |
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