Gene
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
- HGNC 1424(opens in a new tab)
- Ensembl gene ENSG00000084774(opens in a new tab)
- NCBI Gene 790(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 27,217,369–27,243,943 (GRCh38)
- Exons
- 44 exons across 26.6 kb
- Protein
- 2,225 amino acids
- Also known as
- GATD4
- MANE Select transcript
- ENST00000264705.9NM_004341.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Congenital Disorders of Glycosylation
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
How CAD is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.3 kb of the gene's 26.6 kb; 6,678 of those bases code for the protein.
How a genome test reads CAD
27
positions in CAD where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 26.6 kb of CAD, introns included, not only the 7.3 kb of exons.
Traits linked to CAD
The Human Phenotype Ontology lists these as features of the rare conditions CAD can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CAD gene: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase. Retrieved 17 October 2026, from https://dantelabs.com/genes/cad
Dante Labs. CAD gene: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cad
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