Primary Identifier | MGI:1355321 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 50883 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase activity. Acts upstream of or within several processes, including cellular response to gamma radiation; signal transduction by p53 class mediator; and thymocyte apoptotic process. Predicted to be located in Golgi apparatus and PML body. Predicted to be active in cytoplasm and nucleus. Predicted to colocalize with chromosome, telomeric region. Is expressed in several structures, including central nervous system; genitourinary system; and liver. Human ortholog(s) of this gene implicated in several diseases, including Li-Fraumeni syndrome 2; breast cancer (multiple); colorectal cancer; osteosarcoma; and prostate cancer. Orthologous to human CHEK2 (checkpoint kinase 2). PHENOTYPE: Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis. [provided by MGI curators] |