CAD Chromosome 2
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
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What This Gene Does
The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Glutamine amidotransferase class 1 domain containing
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000084774
Associated Conditions (7)
Developmental and epileptic encephalopathy
50
Infantile epileptic dyskinetic encephalopathy
Inborn genetic diseases
CAD-related disorder
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Key Variants
RS1171360627
Conflicting classifications of pathogenicity
Health Risk
RS1178918865
Conflicting classifications of pathogenicity
Health Risk
RS1291590169
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy
Health Risk
RS1341652994
Conflicting classifications of pathogenicity
Infantile epileptic dyskinetic encephalopathy, Infantile epileptic dyskinetic encephalopathy
Health Risk
RS1344786039
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1377680993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138295722
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1399594906
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141169282
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144801319
Conflicting classifications of pathogenicity
Inborn genetic diseases, CAD-related disorder, Inborn genetic diseases
Health Risk
RS145562987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1461244817
Conflicting classifications of pathogenicity
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2465358553 | Health Risk | Likely pathogenic | — |
| RS2465370364 | Health Risk | Likely pathogenic | — |
| RS757585784 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS1019263242 | Health Risk | Pathogenic | — |
| RS1085307810 | Health Risk | Pathogenic | — |
| RS1165169806 | Health Risk | Pathogenic | — |
| RS1284790187 | Health Risk | Pathogenic | — |
| RS1360308012 | Health Risk | Pathogenic | — |
| RS1475014505 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS1491211155 | Health Risk | Pathogenic | — |
| RS1572423883 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS1675212022 | Health Risk | Pathogenic | — |
| RS1676028774 | Health Risk | Pathogenic | — |
| RS1676249686 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS1676285984 | Health Risk | Pathogenic | — |
| RS1676294288 | Health Risk | Pathogenic | — |
| RS2148051187 | Health Risk | Pathogenic | — |
| RS2148063184 | Health Risk | Pathogenic | — |
| RS2148078325 | Health Risk | Pathogenic | — |
| RS2148092534 | Health Risk | Pathogenic | — |
| RS2465293335 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS2465296645 | Health Risk | Pathogenic | — |
| RS2465297923 | Health Risk | Pathogenic | — |
| RS2465299251 | Health Risk | Pathogenic | — |
| RS2465299350 | Health Risk | Pathogenic | — |
| RS2465299809 | Health Risk | Pathogenic | — |
| RS2465303427 | Health Risk | Pathogenic | — |
| RS2465306996 | Health Risk | Pathogenic | — |
| RS2465307163 | Health Risk | Pathogenic | — |
| RS2465324851 | Health Risk | Pathogenic | — |
| RS2465324954 | Health Risk | Pathogenic | — |
| RS2465325640 | Health Risk | Pathogenic | — |
| RS2465328759 | Health Risk | Pathogenic | — |
| RS2465337001 | Health Risk | Pathogenic | — |
| RS2465337853 | Health Risk | Pathogenic | — |
| RS2465341445 | Health Risk | Pathogenic | — |
| RS2465341623 | Health Risk | Pathogenic | — |
| RS2465341923 | Health Risk | Pathogenic | — |
| RS2465343198 | Health Risk | Pathogenic | — |
| RS2465361141 | Health Risk | Pathogenic | — |
| RS2465366773 | Health Risk | Pathogenic | — |
| RS2465367028 | Health Risk | Pathogenic | — |
| RS2465367500 | Health Risk | Pathogenic | — |
| RS2465371279 | Health Risk | Pathogenic | — |
| RS62130681 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS751610198 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy |
| RS755944287 | Health Risk | Pathogenic | — |
| RS759552111 | Health Risk | Pathogenic | — |
| RS765340947 | Health Risk | Pathogenic | — |
| RS765611426 | Health Risk | Pathogenic | — |