Location [1]
Protein [2]
Synonyms [1]

Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD) is a gene that encodes a trifunctional enzymatic protein that functions in the pyrimidine biosynthesis pathway. The protein is regulated by the MAP kinase pathway. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

CAD is altered in 0.31% of all cancers with lung adenocarcinoma, colon adenocarcinoma, pancreatic adenocarcinoma, gastrointestinal stromal tumor, and glioblastoma having the greatest prevalence of alterations [3].

CAD GENIE Cases - Top Diseases

The most common alterations in CAD are CAD-ALK Fusion (0.09%), CAD V2193G (0.17%), CAD V2195G (0.17%), CAD A1527P (0.08%), and CAD A1591V (0.08%) [3].

CAD GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.