CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 AlteredExpression disease BEFREE CHK-2 is activated by the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), and in metazoan also by DNA-dependent protein kinase catalytic subunit (DNA-PKcs). 31413202 2019
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 Biomarker disease BEFREE These data establish CHK2 as essential for DNA damage surveillance in female meiosis and indicate that the oocyte DSB damage response primarily involves a pathway hierarchy in which ataxia telangiectasia and Rad3-related (ATR) signals to CHK2, which then activates p53 and p63. 24482479 2014
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 GeneticVariation disease BEFREE To increase the efficacy of these treatments, inhibitors of the major components of the DDR such as ATM (ataxia telangiectasia mutated), ATR (ATM and Rad3-related), DNA-PK (DNA-dependent protein kinase, catalytic subunit), Chk1 (checkpoint protein 1) and Chk2 (checkpoint protein 2) have been used to confer radio- and/or chemosensitivity upon cancer cells. 23107892 2013
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 Biomarker disease BEFREE ITCs induced DNA double-strand breaks and enhanced the phosphorylation of histone H2AX, ataxia telangiectasia and Rad3-related protein (ATR) and checkpoint kinase-2 (CHK2). 23770684 2013
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 Biomarker disease BEFREE The expression of p21, Puma and Sesn2 was determined in blood from mice with different gene copy numbers of Atm, Trp53 (p53), Chek2 or Arf and in human blood and mitogen stimulated T-lymphocyte (MSTL) cultures from AT, AT carriers, LFS patients, and controls, both before and after ex vivo ionizing irradiation. 21389785 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 Biomarker disease BEFREE The S-phase checkpoint kinase and telomere maintenance factor Tel1, a homolog of the human ataxia telangiectasia (ATM) protein, prevents these translocations, whereas the checkpoint kinase Mec1, a homolog of the human ATM-related protein, and the Rad53 checkpoint kinase are not required. 16809776 2006
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.070 AlteredExpression disease BEFREE We demonstrate that PML interacts with Chk2 and activates Chk2 by mediating its autophosphorylation step, an essential step for Chk2 activity that occurs after phosphorylation by the upstream kinase ATM (ataxia telangiectasia-mutated). 16835227 2006