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DHODH (dihydroorotate dehydrogenase (quinone))
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1723
Gene nameGene Name - the full gene name approved by the HGNC.
Dihydroorotate dehydrogenase (quinone)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DHODH
SynonymsGene synonyms aliases
DHOdehase, POADS, URA1
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mit
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs201230446 C>T Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs201947120 C>T Pathogenic Missense variant, coding sequence variant
rs267606765 G>A,C Uncertain-significance, pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs267606767 G>A,C Pathogenic Missense variant, coding sequence variant
rs267606768 C>G,T Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT029671 hsa-miR-26b-5p Microarray 19088304
MIRT039774 hsa-miR-615-3p CLASH 23622248
MIRT715251 hsa-miR-6838-3p HITS-CLIP 19536157
MIRT715250 hsa-miR-455-3p HITS-CLIP 19536157
MIRT715249 hsa-miR-1910-5p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004152 Function Dihydroorotate dehydrogenase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q02127
Protein name Dihydroorotate dehydrogenase (quinone), mitochondrial (DHOdehase) (EC 1.3.5.2) (Dihydroorotate oxidase)
Protein function Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway.
PDB 1D3G , 1D3H , 2B0M , 2BXV , 2FPT , 2FPV , 2FPY , 2FQI , 2PRH , 2PRL , 2PRM , 2WV8 , 3F1Q , 3FJ6 , 3FJL , 3G0U , 3G0X , 3KVJ , 3KVK , 3KVL , 3KVM , 3U2O , 3W7R , 3ZWS , 3ZWT , 4IGH , 4JGD , 4JS3 , 4JTS , 4JTT , 4JTU , 4LS0 , 4LS1 , 4LS2 , 4OQV , 4RK8 , 4RKA , 4RLI , 4RR4 , 4YLW , 4ZL1 , 4ZMG , 5H2Z , 5H73 , 5HIN , 5HQE , 5K9C , 5K9D , 5MUT , 5MVC , 5MVD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01180 DHO_dh
77 → 377
Dihydroorotate dehydrogenase
 Domain
Sequence
Sequence length 395
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Pyrimidine metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Pyrimidine biosynthesis
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 38827
Beta thalassemia beta Thalassemia rs33930165, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33972047, rs334, rs33969677, rs33940204, rs35256489, rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs34502690, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs41443947, rs35383398, rs63750099, rs34533941, rs36107977, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs33945777, rs1554918032, rs193922563, rs63751076, rs33943001, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs34451549, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33994806, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs63750954, rs33925391, rs35894115, rs63751128, rs33913712, rs35949130, rs63750475, rs33952266, rs36015961, rs34999973, rs34750035, rs33930702, rs35699671, rs267607291, rs63751218, rs63750513, rs35477349, rs33978907, rs41464951, rs63750067, rs33914668, rs34305195, rs193922552, rs193922553, rs34282684, rs193922555, rs35699606, rs34937014, rs35328027, rs35703285, rs33956879, rs34527846, rs34716011, rs63749960, rs63750128, rs1847516043, rs63751269, rs34809925, rs34135787, rs34704828, rs35225141, rs63750283, rs35619054, rs34563000, rs33991059, rs1554917561, rs34218908, rs1554918165, rs1554917947, rs35456885, rs35684407, rs1564875707, rs1564875331, rs1564874901, rs63750205, rs281865475, rs35395625, rs1564874813, rs63750223, rs281864518, rs35755331, rs281864532, rs1847518799, rs34171453, rs1847520793, rs281864497, rs1847523960, rs33953406, rs281864531, rs33910209, rs34363638, rs281864544, rs281864528, rs63751306, rs281864527, rs33930977, rs63750556, rs1847551520, rs1847552816, rs34466953, rs1847553344, rs34477959, rs1847553498, rs1847553585, rs1847553982, rs34831847, rs1847554171, rs35371965, rs1847555115, rs63750504, rs281864906, rs281864520, rs1847557333, rs1847557422, rs1847557540, rs34165323, rs1847558511, rs267607293, rs33969400, rs1847559573, rs1847560327, rs1847560717, rs35171933, rs34960334, rs35165357, rs1847561467, rs1847561978, rs1847562189, rs1847562491, rs1847563072, rs35133315, rs1554917970, rs33979901, rs36029927, rs63749957, rs1847565768, rs35857380, rs63749977, rs1135071, rs1847579861, rs267607295, rs35619688, rs281864899, rs1847582194, rs281864898, rs1847582308, rs33959855, rs1847584946, rs1847585652, rs1847585864, rs1847585812, rs1554918214, rs1847586938, rs1847587051, rs34548294, rs1847587286, rs1847587350, rs1847587392, rs1847587799, rs1847587930, rs34948328, rs281864519, rs1847588699, rs1847588915, rs1847589398, rs63750400, rs281864525, rs1847591425, rs1847592245, rs1847592435, rs63750692, rs1847534434, rs1847537515, rs35099082, rs63750774, rs1847554565, rs35348864 38827
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Unknown
Disease name Disease term dbSNP ID References
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern
Accessory nipple Accessory nipple
Choanal atresia Choanal Atresia
Developmental dysplasia of the hip Congenital Dysplasia Of The Hip

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