GenAge entry for CHEK2 (Homo sapiens)
Gene name (HAGRID: 247)
- HGNC symbol
- CHEK2
- Aliases
- CDS1; CHK2; HuCds1; PP1425; bA444G7; RAD53
- Common name
- checkpoint kinase 2
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
- Description
CHEK2 is a cell cycle checkpoint regulator and putative tumor suppressor. It blocks cell cycle progression in response to DNA damage.
Loss or haploid loss of CHEK2 enables mice lacking BRCA1 to avoid embryonic lethality and display signs of premature ageing at about 18 months of age and develop multiple tumours later in life. Absence of CHEK2 may have attenuated TP53-dependent apoptosis and growth arrest [1838]. Similarly, CHEK2 deletion partly rescues accelerated ageing and age-associated pathologies from both TERC and TRF1 mutant mice [3620].CHEK2 is also essential for eliminating mouse oocytes with unrepaired DNA damage [3619]. In humans, mutations in CHEK2 have been shown to confer susceptibility to multiple tumours and have been associated with Li-Fraumeni syndrome [1859].
Cytogenetic information
- Cytogenetic band
- 22q12.1
- Location
- 28,687,743 bp to 28,741,834 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0000077; DNA damage checkpoint
GO:0000086; G2/M transition of mitotic cell cycle
GO:0001302; replicative cell aging
GO:0001934; positive regulation of protein phosphorylation
GO:0006302; double-strand break repair
GO:0006351; transcription, DNA-templated
GO:0006355; regulation of transcription, DNA-templated
GO:0006468; protein phosphorylation
GO:0006974; cellular response to DNA damage stimulus
GO:0006975; DNA damage induced protein phosphorylation
GO:0006977; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0006978; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0008630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:0018105; peptidyl-serine phosphorylation
GO:0018107; peptidyl-threonine phosphorylation
GO:0035690; cellular response to drug
GO:0042176; regulation of protein catabolic process
GO:0042770; signal transduction in response to DNA damage
GO:0042771; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0042981; regulation of apoptotic process
GO:0044257; cellular protein catabolic process
GO:0045893; positive regulation of transcription, DNA-templated
GO:0046777; protein autophosphorylation
GO:0050821; protein stabilization
GO:0051301; cell division
GO:0071157; negative regulation of cell cycle arrest
GO:0071480; cellular response to gamma radiation
GO:0072428; signal transduction involved in intra-S DNA damage checkpoint
GO:0090307; mitotic spindle assembly
GO:0090399; replicative senescence
GO:1901796; regulation of signal transduction by p53 class mediator
GO:1903416; response to glycoside
GO:1903926; cellular response to bisphenol A
GO:2000002; negative regulation of DNA damage checkpoint
GO:2000210; positive regulation of anoikis
Cellular component: GO:0000781; chromosome, telomeric region
GO:0005654; nucleoplasm
GO:0005794; Golgi apparatus
GO:0016605; PML body
Function: GO:0004674; protein serine/threonine kinase activity
GO:0005515; protein binding
GO:0005524; ATP binding
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
Protein interactions and network
- Protein-protein interacting partners in GenAge
- TP53, ATM, FOS, BRCA1, VCP, BRCA2, PML, PRKDC, RB1, FOXM1, APP, SIRT1, MAPK3, MDM2, ATR, CHEK2, ARHGAP1, TP53BP1
- STRING interaction network
Retrieve sequences for CHEK2
Homologs in model organisms
- Caenorhabditis elegans
- CELE_T08D2.7
- Danio rerio
- chek2
- Drosophila melanogaster
- lok
- Mus musculus
- Chek2
- Rattus norvegicus
- Chek2
- Saccharomyces cerevisiae
- DUN1
- Schizosaccharomyces pombe
- cds1
In other databases
- GenAge model organism genes
- CellAge
- This gene is present as CHEK2
Selected references
External links
- EPD
- ORF Accession
- NM_001005735
- CDS Accession
- NP_001005735
- OMIM
- 604373
- HPRD
- 05084
- Ensembl
- CHEK2
- UniProt/Swiss-Prot
- CHK2_HUMAN
- GeneCards
- CHEK2
- Entrez Gene
- 11200
- UniGene
- 291363
- GenAtlas
- CHEK2
- Internet
- Search Google