CHEK2
checkpoint kinase 2 | CDS1, CHK2, HuCds1, PP1425, bA444G7, RAD53

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]

Member of: DE-11 DE-11.2 Developmental clusters: GC3
Biological processes 49 terms
ATP binding (GO:0005524)DNA damage checkpoint signaling (GO:0000077)DNA damage response (GO:0006974)DNA damage response (GO:0006974)DNA damage response (GO:0006974)DNA damage response, signal transduction by p53 class mediator (GO:0030330)DNA damage response, signal transduction by p53 class mediator (GO:0030330)G2/M transition of mitotic cell cycle (GO:0000086)PML body (GO:0016605)PML body (GO:0016605)cellular response to stress (GO:0033554)chromosome, telomeric region (GO:0000781)cytoplasm (GO:0005737)double-strand break repair (GO:0006302)double-strand break repair (GO:0006302)identical protein binding (GO:0042802)intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)mitotic DNA damage checkpoint signaling (GO:0044773)mitotic intra-S DNA damage checkpoint signaling (GO:0031573)mitotic spindle assembly (GO:0090307)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)positive regulation of DNA-templated transcription (GO:0045893)protein autophosphorylation (GO:0046777)protein binding (GO:0005515)protein catabolic process (GO:0030163)protein homodimerization activity (GO:0042803)protein kinase activity (GO:0004672)protein kinase binding (GO:0019901)protein phosphorylation (GO:0006468)protein serine kinase activity (GO:0106310)protein serine/threonine kinase activity (GO:0004674)protein serine/threonine kinase activity (GO:0004674)protein serine/threonine kinase activity (GO:0004674)protein serine/threonine kinase activity (GO:0004674)protein stabilization (GO:0050821)regulation of DNA-templated transcription (GO:0006355)regulation of autophagosome assembly (GO:2000785)regulation of protein catabolic process (GO:0042176)regulation of signal transduction by p53 class mediator (GO:1901796)replicative senescence (GO:0090399)signal transduction in response to DNA damage (GO:0042770)signal transduction in response to DNA damage (GO:0042770)ubiquitin protein ligase binding (GO:0031625)
Expression (TPM)
CHEK2 — as a Regulated Gene

TFs regulating CHEK2 0 TFs

Transcription factors with Perturb-seq knockdown data for CHEK2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = CHEK2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to CHEK2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of CHEK2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr22:28,442,238–28,442,891 299.4 kb Distal (>10kb) Multiome 615
chr22:28,679,491–28,680,261 61.9 kb Distal (>10kb) Multiome 374
chr22:28,736,360–28,736,647 5.2 kb Proximal (<10kb) 92
chr22:28,741,336–28,742,751 104 bp At TSS Multiome 926
chr22:28,772,518–28,773,373 31.0 kb Distal (>10kb) Multiome 796
chr22:28,800,006–28,801,035 58.8 kb Distal (>10kb) Multiome 829
chr22:28,882,670–28,884,893 141.6 kb Distal (>10kb) Multiome 802
chr22:29,004,535–29,005,249 263.1 kb Distal (>10kb) Multiome 417
chr22:29,029,712–29,031,115 289.0 kb Distal (>10kb) Multiome 773

Genome Browser

Genomic view of the CHEK2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr22:28,432,238 – 29,041,115
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq