CHEK2 wt Allele

Preferred Label : CHEK2 wt Allele;

NCIt synonyms : CDS1; hCds1; RAD53; PP1425; CHK2; bA444G7; CDS1, S. pombe, Homolog of Gene; Checkpoint Kinase 2, S. pombe, Homolog of Gene; RAD53, S. cerevisiae, Homolog of Gene; CHK2 Checkpoint Homolog (S. pombe) Gene; LFS2; HuCds1; Checkpoint Kinase 2 wt Allele;

NCIt definition : Human CHEK2 wild-type allele is located in the vicinity of 22q12.1 and is approximately 57 kb in length. This allele, which encodes serine/threonine-protein kinase Chk2 protein, is involved in prevention of entry into mitosis and induction of G1 checkpoint arrest in response to DNA damage. Certain allelic variants of the CHEK2 gene that encode protein products with reduced or abolished activity are associated with Li-Fraumeni syndrome 2. Heritable alterations in this gene also confer susceptibility to breast, colorectal and prostate cancers.;

NCIt note : The CHEK2 gene is a putative tumor suppressor gene. Somatic mutations in this gene are associated with osteosarcoma and prostate cancer.;

GenBank Accession Number : NM_007194;

Details

Origin ID

C51197;

UMLS CUI

C1706047;

OMIM relation
- Checkpoint kinase 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Brain Neoplasm [NCIt concept]
- Breast Neoplasm [NCIt concept]
- Colorectal Neoplasm [NCIt concept]
- Prostate Neoplasm [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CHEK2 Gene Mutation [NCIt concept]
gene_has_physical_location
- 22: 27465251-27408285 [NCIt concept]
gene_in_chromosomal_location
- 22q12.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]
gene_is_element_in_pathway
- ATM Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
- Cell Cycle Pathway [NCIt concept]
- Cell Cycle Progression Pathway [NCIt concept]
- FOXM1 Transcription Factor Signaling Pathway [NCIt concept]
- G2/M Checkpoint Pathway [NCIt concept]
- PLK3 Signaling Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Survival [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Stress Response Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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