Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1723
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydroorotate dehydrogenase (quinone)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHODH
Synonyms (NCBI Gene) Gene synonyms aliases
DHOdehase, POADS, URA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
POADS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
126064 2867 ENSG00000102967
Protein
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pyrimidine metabolism
Metabolic pathways
Biosynthesis of cofactors
  Pyrimidine biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
38827
Beta thalassemia beta Thalassemia rs33930165, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33972047, rs334, rs33969677, rs33940204, rs35256489, rs33986703, rs11549407, rs63750783
View all (204 more)
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
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Thalassemia Thalassemia Minor, Thalassemia Intermedia 38827 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 39217320
Autoimmune Diseases Associate 35514210, 37744270
Carcinoma Non Small Cell Lung Associate 36869602
Colonic Neoplasms Associate 20399851
Ear Diseases Associate 37120754
Endometrial Neoplasms Associate 36700627
Freeman Sheldon syndrome Associate 23819870
Genee Wiedemann syndrome Associate 19915526, 22967083, 23216091, 23819870, 36869602, 37120754
Hyperlipidemias Associate 36368321
Intellectual Disability Associate 23216091