Homo sapiens Gene: CHEK2
Summary
InnateDB Gene IDBG-3314.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHEK2
Gene Name checkpoint kinase 2
Synonyms CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425; RAD53;
Species Homo sapiens
Ensembl Gene ENSG00000183765
Encoded Proteins
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
CHK2 checkpoint homolog (S. pombe)
checkpoint kinase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 22:28687743-28742422
Strand Reverse strand
Band q12.1
Transcripts
ENST00000382580 ENSP00000372023
ENST00000328354 ENSP00000329178
ENST00000348295 ENSP00000329012
ENST00000382565 ENSP00000372006
ENST00000398017 ENSP00000381099
ENST00000404276 ENSP00000385747
ENST00000405598 ENSP00000386087
ENST00000403642 ENSP00000384919
ENST00000402731 ENSP00000384835
ENST00000416671 ENSP00000402225
ENST00000456369 ENSP00000394430
ENST00000434810 ENSP00000416721
ENST00000433028 ENSP00000403659
ENST00000433728 ENSP00000404400
ENST00000417588 ENSP00000412901
ENST00000448511 ENSP00000404567
ENST00000447421 ENSP00000397478
ENST00000425190 ENSP00000390244
ENST00000439346 ENSP00000396903
ENST00000439200 ENSP00000408065
ENST00000454252 ENSP00000387451
ENST00000472807
ENST00000464581 ENSP00000483777
ENST00000491919
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 109 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 109 [view]
Protein-Protein 103 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
Biological Process
GO:0000077 DNA damage checkpoint
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006302 double-strand break repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0006975 DNA damage induced protein phosphorylation
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010332 response to gamma radiation
GO:0042176 regulation of protein catabolic process
GO:0042770 signal transduction in response to DNA damage
GO:0044257 cellular protein catabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046777 protein autophosphorylation
GO:0050821 protein stabilization
GO:0072428 signal transduction involved in intra-S DNA damage checkpoint
GO:0090307 spindle assembly involved in mitosis
GO:0090399 replicative senescence
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0005654 nucleoplasm
GO:0016605 PML body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Cell cycle pathway
p53 signaling pathway pathway
INOH
PID BIOCARTA
Atm signaling pathway [Biocarta view]
Cell cycle: g2/m checkpoint [Biocarta view]
Regulation of cell cycle progression by plk3 [Biocarta view]
Role of brca1 brca2 and atr in cancer susceptibility [Biocarta view]
PID NCI
PLK3 signaling events
ATM pathway
FOXM1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.291363 Hs.505297
RefSeq NM_001005735 NM_001257387 NM_007194 NM_145862 XM_006724115 XM_006724116
HUGO
OMIM
CCDS CCDS13843 CCDS13844 CCDS33629
HPRD 05084
IMGT
EMBL
GenPept
RNA Seq Atlas