GO: 0001934 positive regulation of protein phosphorylation GO: 0000086 G2/M transition of mitotic cell cycle Protein information Gene Ontology Process: Cytogenetic information Cytogenetic band 22q12.1 Location 28,687,743 bp to 28,741,834 bp Orientation Minus strandÄisplay region using the UCSC Genome Browser (GRCh38/hg38) In humans, mutations in CHEK2 have been shown to confer susceptibility to multiple tumours and have been associated with Li-Fraumeni syndrome. CHEK2 is also essential for eliminating mouse oocytes with unrepaired DNA damage. Similarly, CHEK2 deletion partly rescues accelerated ageing and age-associated pathologies from both TERC and TRF1 mutant mice. Absence of CHEK2 may have attenuated TP53-dependent apoptosis and growth arrest. Loss or haploid loss of CHEK2 enables mice lacking BRCA1 to avoid embryonic lethality and display signs of premature ageing at about 18 months of age and develop multiple tumours later in life. It blocks cell cycle progression in response to DNA damage. GenAge entry for CHEK2 ( Homo sapiens) Gene name (HAGRID: 247) HGNC symbol CHEK2 Aliases CDS1 CHK2 HuCds1 PP1425 bA444G7 RAD53 Common name checkpoint kinase 2 Potential relevance to the human ageing process Main reason for selection Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing DescriptionĬHEK2 is a cell cycle checkpoint regulator and putative tumor suppressor.