carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
| GO Term | Evidence Code | PMID |
|---|---|---|
| liver development |
|
|
| 'de novo' pyrimidine nucleobase biosynthetic process |
|
|
| 'de novo' pyrimidine nucleobase biosynthetic process |
|
|
| 'de novo' pyrimidine nucleobase biosynthetic process |
|
|
| 'de novo' pyrimidine nucleobase biosynthetic process |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol |
|
|
| cytosol |
|
|
| membrane |
|
|
| nuclear matrix |
|
|
| protein-containing complex |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| aspartate carbamoyltransferase activity |
|
|
| aspartate carbamoyltransferase activity |
|
|
| aspartate carbamoyltransferase activity |
|
|
| aspartate carbamoyltransferase activity |
|
|
| carbamoyl-phosphate synthase (ammonia) activity |
|
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080419 | developmental and epileptic encephalopathy 50 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001508 | Failure to thrive |
| HP:0001903 | Anemia |
| HP:0001927 | Acanthocytosis |
| HP:0001947 | Renal tubular acidosis |
| HP:0001981 | Schistocytosis |
| HP:0001987 | Hyperammonemia |
| Disease ID | Disease Name |
|---|---|
| OMIM:616457 |
|
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 69719 | MGI:1916969 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026