CHEK2 Chromosome 22
Checkpoint kinase 2
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What This Gene Does
In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Checkpoint kinase 2 family
Locus Type
gene with protein product
Location
22q12.1
Ensembl
ENSG00000183765
Associated Conditions (77)
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
CHEK2-related cancer predisposition
Prostate cancer
Bone osteosarcoma
Hereditary cancer
CHEK2-related disorder
Acute myeloid leukemia
Malignant tumor of breast
Familial prostate cancer
Breast-ovarian cancer
familial
susceptibility to
2
Colorectal cancer
Predisposition to cancer
1
+57 more conditions
Key Variants
RS1024561307
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520267
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521735
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1057522400
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502688
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
Health Risk
RS1060502701
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502708
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502720
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502721
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502722
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060504691
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1064793324
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
All Variants (975)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517756961 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517757054 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517758048 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517758460 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517758511 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2517758757 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517784498 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2517786195 | Health Risk | Likely pathogenic | Familial cancer of breast, CHEK2-related cancer predisposition, Familial cancer of breast |
| RS2517788605 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2517794440 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517794670 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517794678 | Health Risk | Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma |
| RS2517798558 | Health Risk | Likely pathogenic | Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS2517804402 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517806508 | Health Risk | Likely pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS2517810869 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517810925 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517819834 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517819962 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517823703 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517884392 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2517884793 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517885584 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517887811 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517941575 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517942080 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517942094 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2517958902 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517964892 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2517964935 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2517969730 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2518007966 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518051292 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518051357 | Health Risk | Likely pathogenic | — |
| RS2518052262 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518054941 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518057651 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518059974 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2518060056 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518060158 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518061871 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518061916 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518125985 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2518133720 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518135680 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518136412 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2518136516 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS545982789 | Health Risk | Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587781699 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587782401 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Bone osteosarcoma, Familial cancer of breast |