CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)

2006-10-01  

Identity

HGNC
CAD
LOCATION
2p23.3
LOCUSID
790
ALIAS
CDG1Z,DEE50,EIEE50,GATD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 790
MIM: 114010
HGNC: 1424
Ensembl: ENSG00000084774

Variants:

dbSNP: 790
ClinVar: 790
TCGA: ENSG00000084774
COSMIC: CAD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084774ENST00000264705P27708
ENSG00000084774ENST00000403525F8VPD4
ENSG00000084774ENST00000428460H7C2E4
ENSG00000084774ENST00000456311H7BZB3
ENSG00000084774ENST00000458503H7C3Z5

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
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
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

References

Pubmed IDYearTitleCitations
375405002023Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.1
375405002023Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.1
342881852021Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.16
342881852021Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.16
319677102020New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development.4
323700672020The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription.15
327207282020Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.6
319677102020New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development.4
323700672020The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription.15
327207282020Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.6
302684982018Crystal structures of monometallic dihydropyrimidinase and the human dihydroorotase domain K1556A mutant reveal no lysine carbamylation within the active site.10
303151072018Characterization of the catalytic flexible loop in the dihydroorotase domain of the human multi-enzymatic protein CAD.11
302684982018Crystal structures of monometallic dihydropyrimidinase and the human dihydroorotase domain K1556A mutant reveal no lysine carbamylation within the active site.10
303151072018Characterization of the catalytic flexible loop in the dihydroorotase domain of the human multi-enzymatic protein CAD.11
280079892017CAD mutations and uridine-responsive epileptic encephalopathy.52

Citation

Dessen P

CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43178/deep-insight-explorer/cancer-prone-explorer/meetings/