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

2006-10-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
CDG1Z,DEE50,EIEE50,GATD4
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
145599962003mSin3A/histone deacetylase 2- and PRMT5-containing Brg1 complex is involved in transcriptional repression of the Myc target gene cad.115
206597892010Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
161551882005Transcriptional repression of human cad gene by hypoxia inducible factor-1alpha.35
127462932003Estrogen receptor/Sp1 complexes are required for induction of cad gene expression by 17beta-estradiol in breast cancer cells.29
156212152005Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.19
280079892017CAD mutations and uridine-responsive epileptic encephalopathy.15
256785552015Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.13
158906482005Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD.9
283684552017Tracking a CAD-ALK gene rearrangement in urine and blood of a colorectal cancer patient treated with an ALK inhibitor.9

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/cad-(carbamoyl-phosphate-synthetase-2-aspartate-transcarbamylase-and-dihydroorotase)