Gene Gene information from NCBI Gene database.
Entrez ID 1723
Gene name Dihydroorotate dehydrogenase (quinone)
Gene symbol DHODH
Synonyms (NCBI Gene)
DHOdehasePOADSURA1
Chromosome 16
Chromosome location 16q22.2
Summary 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.
7
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.
699
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0004151 Function Dihydroorotase activity IEA
GO:0004152 Function Dihydroorotate dehydrogenase activity IBA
GO:0004152 Function Dihydroorotate dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126064 2867 ENSG00000102967
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DHODH-related disorder Pathogenic rs776973679 RCV003918896
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Miller syndrome Pathogenic; Likely pathogenic rs776973679, rs1288171226, rs201947120, rs201230446, rs267606767, rs1215488320, rs267606769 RCV001780367
RCV001733572
RCV000018291
RCV000018292
RCV000018295
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA, SICKLE CELL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern HPO_DG
★☆☆☆☆
Found in Text Mining only
Accessory nipple Accessory Nipple HPO_DG
★☆☆☆☆
Found in Text Mining only
Acrofacial Dysostosis Acrofacial Dysostosis BEFREE 27370710
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia CTD_human_DG 38827
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 31025527
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia CTD_human_DG 38827
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis BEFREE 21845515, 28196676
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 39217320 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31043571, 31087527
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 35514210, 37744270 Associate
★☆☆☆☆
Found in Text Mining only