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

Display region using the UCSC Genome Browser (GRCh38/hg38)

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

And 25 more GO terms

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

Show all GO terms

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

ORF: ORF
CDS: CDS

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

A homolog of this gene for Mus musculus is present as Chek2
A homolog of this gene for Saccharomyces cerevisiae is present as DUN1

CellAge

This gene is present as CHEK2