LP157428-6
CHEK2 gene
Active
Description
The CHEK2 gene (checkpoint kinase 2) [HGNC Gene ID:16627] is located on chromosome 22q12.1. 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] [NCBI Gene ID:11200] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CHEK2 gene
- Part Display Name
- CHEK2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-09-24
- Construct for LOINC Short Name
- CHEK2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Gene CHEK2 |
| zh-CN | Chinese (China) | CHEK2 基因 Synonyms: 检查点激酶2基因; |
| es-ES | Spanish (Spain) | Gen CHEK2 |
| fr-FR | French (France) | CHEK2 gène |
| nl-NL | Dutch (Netherlands) | CHEK2-gen |
| pl-PL | Polish (Poland) | CHEK2 gen Synonyms: Gen CHEK2 |
| el-GR | Greek (Greece) | Γονίδιο CHEK2 Synonyms: Γονίδιο CHEK2 |
LOINC Copyright
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