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
Protein-Protein network diagram for CHEK2

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

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