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  3. CHEK2

CHEK2 (Checkpoint kinase 2)

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The Function of CHEK2

Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978).

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Protein names

Recommended name:

Serine/threonine-protein kinase Chk2

Alternative name(s):

CHK2 checkpoint homolog
Cds1 homolog
Hucds1
hCds1
Checkpoint kinase 2

CHEK2 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1033667 (CHEK2) ??
  2. RS1547014 (CHEK2) ??
  3. RS17879961 (CHEK2) ??
  4. RS17883862 (CHEK2) ??
  5. RS1805129 (CHEK2) ??
  6. RS4035540 (CHEK2) ??
  7. RS4822983 (CHEK2) ??
  8. RS738722 (CHEK2) ??

Top Gene-Substance Interactions

CHEK2 Interacts with These Diseases

Disease Score

Substances That Increase CHEK2

Substances Interaction Organism Category

Substances That Decrease CHEK2

Substances Interaction Organism Category

Advanced Summary

     breast cancer Genetics Home Reference provides information about breast cancer . Li-Fraumeni syndrome Although most cases of Li-Fraumeni syndrome are associated with mutations in the TP53 gene, CHEK2 gene mutations have been identified in several families with cancers characteristic of this condition. At least one family has a mutation that deletes a single DNA building block (nucleotide) at position 1100 in the CHEK2 gene (written as 1100delC). The 1100delC mutation leads to the production of an abnormally short, nonfunctional version of the CHK2 protein. Researchers are uncertain whether CHEK2 gene mutations actually cause Li-Fraumeni syndrome or are merely associated with an increased risk of several types of cancer, including those cancers often seen in Li-Fraumeni syndrome. ovarian cancer Genetics Home Reference provides information about ovarian cancer. prostate cancer Genetics Home Reference provides information about prostate cancer. other cancers Mutations in the CHEK2 gene, including the 1100delC mutation described above, have also been found in other hereditary and nonhereditary (sporadic) cancers affecting many of the body's organs and tissues. Although the full range of cancers associated with CHEK2 mutations has not been determined, studies have associated mutations in this gene with prostate, breast, lung, colon, kidney, thyroid, and ovarian cancers. CHEK2 mutations have also been found in some brain tumors and in a type of bone cancer called osteosarcoma.

     The CHEK2 gene provides instructions for making a protein called checkpoint kinase 2 (CHK2). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. The CHK2 protein is activated when DNA becomes damaged or when DNA strands break. DNA can be damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material. In response to DNA damage, the CHK2 protein interacts with several other proteins, including tumor protein 53 (which is produced from the TP53 gene). These proteins halt cell division and determine whether a cell will repair the damage or self-destruct in a controlled manner (undergo apoptosis). This process keeps cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • CBF-B
  • NF-YB
  • STAT1
  • STAT1beta
  • STAT1alpha
  • E2F-1
  • CBF-C

Tissue specificity:

High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expression is found in other tissues.

Gene Pathways:

  • p53 signaling pathway
  • DNA replication and repair

Enzyme Regulation:

Activated through phosphorylation at Thr-68 by ATM in response to DNA double-strand breaks. Activation is modulated by several mediators including MDC1 and TP53BP1. Induces homodimerization with exchange of the T-loop/activation segment between protomers and transphosphorylation of the protomers. The autophosphorylated kinase dimer is fully active. Negatively regulated by PPM1D through dephosphorylation of Thr-68.

Molecular Function:

  • Atp Binding
  • Identical Protein Binding
  • Metal Ion Binding
  • Protein Homodimerization Activity
  • Protein Kinase Binding
  • Protein Serine/Threonine Kinase Activity
  • Ubiquitin Protein Ligase Binding

Biological Processes:

  • Cell Division
  • Cellular Protein Catabolic Process
  • Cellular Response To Bisphenol A
  • Cellular Response To Dna Damage Stimulus
  • Cellular Response To Gamma Radiation
  • Dna Damage Checkpoint
  • Dna Damage Induced Protein Phosphorylation
  • Dna Damage Response, Signal Transduction By P53 Class Mediator Resulting In Cell Cycle Arrest
  • Dna Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator
  • Double-Strand Break Repair
  • G2/M Transition Of Mitotic Cell Cycle
  • Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage
  • Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage By P53 Class Mediator
  • Mitotic Spindle Assembly
  • Negative Regulation Of Cell Cycle Arrest
  • Negative Regulation Of Dna Damage Checkpoint
  • Peptidyl-Serine Phosphorylation
  • Positive Regulation Of Anoikis
  • Positive Regulation Of Protein Phosphorylation
  • Positive Regulation Of Transcription, Dna-Templated
  • Protein Autophosphorylation
  • Protein Phosphorylation
  • Protein Stabilization
  • Regulation Of Protein Catabolic Process
  • Regulation Of Signal Transduction By P53 Class Mediator
  • Regulation Of Transcription, Dna-Templated
  • Replicative Cell Aging
  • Replicative Senescence
  • Signal Transduction In Response To Dna Damage
  • Signal Transduction Involved In Intra-S Dna Damage Checkpoint
  • Transcription, Dna-Templated
  • Response To Gamma Radiation
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| Anapl_12034| AS27_12408| AS28_08456| CB1_001708008| Cds1| cds1 homolog| checkpoint and tumor suppressor protein 2| checkpoint-like protein CHK2| Chk2| CHK2 checkpoint homolog| CHK2 checkpoint-like protein| fa66f08| hCds1| HUCDS1| LFS2| M959_06932| N300_10353| N301_03695| N302_01420| N303_08788| N305_13810| N306_15007| N308_15445| N309_04525| N310_09834| N311_07529| N312_02106| N320_02888| N321_09033| N322_02453| N324_11124| N326_02009| N327_11626| N328_11112| N329_04734| N330_00550| N332_05802| N333_13230| N334_13710| N335_12340| N336_10334| N340_04698| N341_11962| PAL_GLEAN10007902| PANDA_003662| PP1425| protein kinase Chk2| rad53| Rad53 homolog| serine/threonine-protein kinase Chk2| TREES_T100016995| UY3_05727| Y1Q_007460| Y956_15207| Z169_14943| chek2

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