| Connectivity | 275 |
|---|---|
| Notes | 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. Two transcript variants encoding different isoforms have been found for this gene, as well as variants utilizing alternative polyadenylation signals. |
| Hugo ID | 16627 |
| Name | CHEK2 |
| Description | protein kinase Chk2 |
| URN | urn:agi-llid:11200 |
| GO Cellular Component | nucleus |
|---|
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| GO Biological Process | DNA damage checkpoint |
|---|---|
| cell cycle | |
| protein amino acid phosphorylation | |
| cell growth and/or maintenance | |
| response to DNA damage stimulus |
| EC Number | 2.7.1.37 |
|---|
| State | protein kinase CHK2 isoform a |
|---|---|
| protein kinase CHK2 isoform b |
| State Description | Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). |
|---|---|
| Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1, resulting in a protein (isoform b) that is shorter than isoform a. |
| MGI ID | 1355321 |
|---|
| Swiss-Prot Accession | O96017 |
|---|
| OMIM ID | OMIM:604373 |
|---|---|
| OMIM:114480 | |
| OMIM:151623 | |
| OMIM:259500 | |
| OMIM:176807 |
| Alias | Rad53 |
|---|---|
| Chk2 | |
| protein kinase Chk2 | |
| Chek2 | |
| Cds1 | |
| HUCDS1 | |
| CHK2 checkpoint homolog (S. pombe) | |
| Cds1 homolog (S. pombe) | |
| Rad53 homolog (S. cerevisiae) | |
| PP1425 | |
| bA444G7 | |
| checkpoint-like protein CHK2 | |
| CHK2 (checkpoint, S.pombe) homolog | |
| serine/threonine-protein kinase CHK2 | |
| Serine/threonine-protein kinase Chk2 (Cds1) | |
| CHK2_HUMAN | |
| Cds I | |
| CHK2 checkpoint homolog | |
| HuCds I | |
| protein kinase CHK2 isoform a | |
| protein kinase CHK2 isoform b | |
| RAD53 homolog (S.cerevisiae) | |
| PP-1425 | |
| PP(1425) |
| Organism | Rattus norvegicus |
|---|---|
| Mus musculus | |
| Human |
| LocusLink ID | 114212 |
|---|---|
| 50883 | |
| 11200 |
| RGD ID | 621543 |
|---|
| Pathway | ATM signaling |
|---|---|
| moduleg_direct | |
| moduleg_shortest | |
| modulef_direct |
| Unigene ID | Rn.18487 |
|---|---|
| Mm.279308 | |
| Hs.146329 |
| Group | nucleotide binding |
|---|