The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.44
Recurrently deleted in 3 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
1.10 (Driver)
Recurrently mutated in 6 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
2
Fusions detected in 2 cancer type(s)
Overall
Tissue specific
Functional class:
Kinase (protein kinase)
JensenLab PubMed score:
3681.59 (Percentile rank: 98.93%)
PubTator score:
1885.93 (Percentile rank: 98.20%)
Target development/druggability level:
TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
