ATR encodes ATR checkpoint kinase (2,644 aa). Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Highest expression in Adrenal Gland (15.7 TPM) and Cells Cultured fibroblasts (14.3 TPM).

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is associated with mutations in the ATR gene on chromosome 3.

ATR is classified as a druggable target (Clinically Actionable, Dna Repair, Druggable Genome, Enzyme, Kinase, Phosphatidylinositol 3 Kinase, and Serine Threonine Kinase categories) with score 3.3.

Genetic testing for ATR is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 1 very common feature, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome.

1 publication has been identified in PubMed for familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome. Research spans Epidemiology / Natural History (100%).

Recent Publications

• Caillot C (2024). [PMID: 38575304](https://pubmed.ncbi.nlm.nih.gov/38575304/). *J Med Genet*. [Epidemiology / Natural History]