DHODH (dihydroorotate dehydrogenase (quinone))

2006-10-01  

Identity

HGNC
DHODH
LOCATION
16q22.2
LOCUSID
1723
ALIAS
DHOdehase,POADS,URA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1723
MIM: 126064
HGNC: 2867
Ensembl: ENSG00000102967

Variants:

dbSNP: 1723
ClinVar: 1723
TCGA: ENSG00000102967
COSMIC: DHODH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102967ENST00000219240Q02127
ENSG00000102967ENST00000571288J3QRJ4
ENSG00000102967ENST00000572887I3NI32
ENSG00000102967ENST00000574309I3L449
ENSG00000102967ENST00000576145J3QRQ3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pyrimidine metabolismKEGGko00240
Pyrimidine metabolismKEGGhsa00240
Metabolic pathwaysKEGGhsa01100
Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMPKEGGM00051
Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMPKEGGhsa_M00051
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine biosynthesisREACTOMER-HSA-500753

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD19207032
PA450192leflunomideChemicalClinicalAnnotationassociatedPD19207032

References

Pubmed IDYearTitleCitations
199155262010Exome sequencing identifies the cause of a mendelian disorder.764
202201762010Analysis of genetic inheritance in a family quartet by whole-genome sequencing.433
214307802011DHODH modulates transcriptional elongation in the neural crest and melanoma.151
304496822019Reactivation of Dihydroorotate Dehydrogenase-Driven Pyrimidine Biosynthesis Restores Tumor Growth of Respiration-Deficient Cancer Cells.22
232160912013Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
186728952008The structures of human dihydroorotate dehydrogenase with and without inhibitor reveal conformational flexibility in the inhibitor and substrate binding sites.16
203998512010Dihydroorotate dehydrogenase is required for N-(4-hydroxyphenyl)retinamide-induced reactive oxygen species production and apoptosis.14
226926832012Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.13
196057432009Dihydroorotate dehydrogenase polymorphism influences the toxicity of leflunomide treatment in patients with rheumatoid arthritis.8

Citation

Dessen P

DHODH (dihydroorotate dehydrogenase (quinone))

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43228/dhodh