CHEK2-related cancer predisposition
diseaseOn this page
Summary
CHEK2-related cancer predisposition (MONDO:0700271) is a cancer caused by CHEK2 (GenCC Definitive), with 2 cohort genes (1 CIViC-evidence somatic driver; 279 ClinVar predisposition records).
At a glance
- Classification: Cancer
- Causal gene: CHEK2 (GenCC Definitive)
- Cohort genes: 2
- ClinVar variants: 279
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | CHEK2-related cancer predisposition |
| Mondo ID | MONDO:0700271 |
| UMLS | C5882668 |
| MedGen | 1849727 |
| GARD | 0026411 |
| Is cancer (heuristic) | yes |
Data availability: 279 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › CHEK2-related cancer predisposition
Related subtypes (116): mosaic variegated aneuploidy syndrome, tuberous sclerosis, hereditary breast ovarian cancer syndrome, hereditary multiple osteochondromas, nevoid basal cell carcinoma syndrome, leukemia, chronic lymphocytic, susceptibility to, 2, blue rubber bleb nevus, cherubism, Beckwith-Wiedemann syndrome, multiple self-healing squamous epithelioma, erythroleukemia, familial, susceptibility to, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, hyperparathyroidism 2 with jaw tumors, Kaposi sarcoma, susceptibility to, hereditary leiomyomatosis and renal cell cancer, susceptibility to uveal melanoma, melanoma and neural system tumor syndrome, nasopharyngeal carcinoma, susceptibility to, 2, WAGR syndrome, neuroblastoma, susceptibility to, 1, Rothmund-Thomson syndrome, mismatch repair cancer syndrome 1, Wiskott-Aldrich syndrome, N syndrome, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, prostate cancer/brain cancer susceptibility, Brooke-Spiegler syndrome, pancreatic cancer, susceptibility to, 1, Carney-Stratakis syndrome, nasopharyngeal carcinoma, susceptibility to, 1, ovarian cancer, susceptibility to, 1, colorectal cancer, susceptibility to, 1, lung cancer susceptibility 1, leukemia, chronic lymphocytic, susceptibility to, 1, Kostmann syndrome, colorectal cancer, susceptibility to, 2, colorectal cancer, susceptibility to, 3, colorectal cancer, susceptibility to, 5, colorectal cancer, susceptibility to, 6, colorectal cancer, susceptibility to, 7, leukemia, chronic lymphocytic, susceptibility to, 3, leukemia, chronic lymphocytic, susceptibility to, 4, leukemia, chronic lymphocytic, susceptibility to, 5, lung cancer susceptibility 3, colorectal cancer, susceptibility to, 8, colorectal cancer, susceptibility to, 9, colorectal cancer, susceptibility to, 10, colorectal cancer, susceptibility to, 11, lung cancer susceptibility 4, neuroblastoma, susceptibility to, 3, neuroblastoma, susceptibility to, 4, neuroblastoma, susceptibility to, 5, neuroblastoma, susceptibility to, 6, leukemia, acute lymphocytic, susceptibility to, 1, leukemia, acute lymphocytic, susceptibility to, 2, lung cancer susceptibility 5, BAP1-related tumor predisposition syndrome, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, basal cell carcinoma, susceptibility to, 7, colorectal cancer, susceptibility to, 12, leukemia, acute lymphoblastic, susceptibility to, 3, cholangiocarcinoma, susceptibility to, progeroid features-hepatocellular carcinoma predisposition syndrome, neuroblastoma, susceptibility to, 7, DDX41-related hematologic malignancy predisposition syndrome, nasopharyngeal carcinoma, susceptibility to, 3, familial isolated hyperparathyroidism, intestinal polyposis syndrome, dyskeratosis congenita, familial rhabdoid tumor, multiple endocrine neoplasia, hereditary pheochromocytoma-paraganglioma, PTEN hamartoma tumor syndrome, familial multiple fibrofolliculoma, hereditary retinoblastoma, familial atypical multiple mole melanoma syndrome, hereditary nonpolyposis colon cancer, Li-Fraumeni syndrome, Cobb syndrome, neurofibromatosis, susceptibility to familial cutaneous melanoma, pancreatic cancer, susceptibility to, 5, leukemia, acute myeloid, susceptibility to, diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, glioma susceptibility, hemangioma, capillary infantile, susceptibility to, CDH1-related diffuse gastric and lobular breast cancer syndrome, NTHL1-deficiency tumor predisposition syndrome, SAMD9-related spectrum and myeloid neoplasm risk, neuroblastoma, susceptibility to, 2, BARD1-related cancer predisposition, BRCA1-related cancer predisposition, BRCA2-related cancer predisposition, ATM-related cancer predisposition, PALB2-related cancer predisposition, RAD51C-related cancer predisposition, RAD51D-related cancer predisposition, Li-fraumeni-like syndrome, breast cancer, familial, susceptibility to, 1, breast cancer, familial, susceptibility to, 2, breast cancer, familial, susceptibility to, 3, colorectal cancer, susceptibility to, 4, colorectal cancer, susceptibility to, on chromosome 15, ovarian cancer, familial, susceptibility to, 1, ovarian cancer, familial, susceptibility to, 2, ovarian cancer, familial, susceptibility to, 3, inherited hematologic cancer-predisposing syndrome, mosaic neurofibromatosis/schwannomatosis, tumor predisposition syndrome 2, prostate cancer, hereditary, X-linked 3, follicular lymphoma, susceptibility to, GPR161-related medulloblastoma predisposition, SAMD9L-related spectrum and myeloid neoplasm risk, HAVCR2-related cancer predisposition, EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
279 retrieved; paginated sample, class counts are floors:
115 uncertain significance, 77 conflicting classifications of pathogenicity, 36 pathogenic/likely pathogenic, 17 pathogenic, 14 benign/likely benign, 11 likely pathogenic, 7 likely benign, 1 benign, 1 conflicting classifications of pathogenicity; risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1066705 | NM_007194.4(CHEK2):c.684-2A>G | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1075895 | NM_007194.4(CHEK2):c.724del (p.Thr242fs) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 126914 | NM_007194.4(CHEK2):c.444+1G>T | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128042 | NM_007194.4(CHEK2):c.1100del (p.Thr367fs) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 128053 | NM_007194.4(CHEK2):c.1263del (p.Ser422fs) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128064 | NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128071 | NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128075 | NM_007194.4(CHEK2):c.444+1G>A | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 128079 | NM_007194.4(CHEK2):c.507del (p.Phe169fs) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 133887 | NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 140772 | NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 141381 | NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 141818 | NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 142352 | NM_007194.4(CHEK2):c.319+2T>A | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 142524 | NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 142956 | NM_007194.4(CHEK2):c.592+3A>T | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1453185 | NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1707509 | NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del | CHEK2 | Pathogenic | criteria provided, single submitter |
| 182430 | NM_007194.4(CHEK2):c.793-1G>A | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 182450 | NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 182452 | NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 185097 | NM_007194.4(CHEK2):c.902del (p.Leu301fs) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 187085 | NM_007194.4(CHEK2):c.277del (p.Trp93fs) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 187643 | NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2116199 | NM_007194.4(CHEK2):c.107del (p.Gln36fs) | CHEK2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2128744 | NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 216003 | NM_007194.4(CHEK2):c.593-1G>T | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 216652 | NM_007194.4(CHEK2):c.846+4_846+7del | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 230455 | NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 234505 | NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) | CHEK2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 10 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| CHEK2 | Act | BRCA | CIViC #8950 |
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| CHEK2 | Definitive | Autosomal dominant | CHEK2-related cancer predisposition | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CHEK2 | Orphanet:1331 | Familial prostate cancer |
| CHEK2 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| CHEK2 | Orphanet:440437 | Familial colorectal cancer Type X |
| CHEK2 | Orphanet:524 | Li-Fraumeni syndrome |
| CHEK2 | Orphanet:668 | Osteosarcoma |
| COL11A1 | Orphanet:2021 | Fibrochondrogenesis |
| COL11A1 | Orphanet:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
| COL11A1 | Orphanet:560 | Marshall syndrome |
| COL11A1 | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| COL11A1 | Orphanet:90654 | Stickler syndrome type 2 |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| CHEK2 | HGNC:16627 | ENSG00000183765 | O96017 | Serine/threonine-protein kinase Chk2 | gencc,clinvar |
| COL11A1 | HGNC:2186 | ENSG00000060718 | P12107 | Collagen alpha-1(XI) chain | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CHEK2 | Serine/threonine-protein kinase Chk2 | Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. |
| COL11A1 | Collagen alpha-1(XI) chain | May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Kinase | 1 | 13.9× | 0.142 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CHEK2 | Kinase | yes | 2.7.11.1 | FHA_dom, Prot_kinase_dom, Ser/Thr_kinase_AS |
| COL11A1 | Other/Unknown | no | Fib_collagen_C, Laminin_G, Collagen |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| lower esophagus mucosa | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| primordial germ cell in gonad | 1 |
| cartilage tissue | 1 |
| periodontal ligament | 1 |
| tibia | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CHEK2 | 183 | ubiquitous | marker | primordial germ cell in gonad, lower esophagus mucosa, male germ line stem cell (sensu Vertebrata) in testis |
| COL11A1 | 209 | broad | marker | tibia, cartilage tissue, periodontal ligament |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CHEK2 | 4,795 |
| COL11A1 | 2,433 |
Structural data
PDB: 1 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CHEK2 | O96017 | 38 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| COL11A1 | P12107 | 53.06 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 15. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Stabilization of p53 | 1 | 380.7× | 0.016 | CHEK2 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 1 | 335.9× | 0.016 | CHEK2 |
| Regulation of TP53 Activity through Methylation | 1 | 271.9× | 0.016 | CHEK2 |
| MET activates PTK2 signaling | 1 | 190.3× | 0.016 | COL11A1 |
| Regulation of TP53 Degradation | 1 | 146.4× | 0.016 | CHEK2 |
| Collagen chain trimerization | 1 | 129.8× | 0.016 | COL11A1 |
| Developmental Lineage of Pancreatic Ductal Cells | 1 | 114.2× | 0.016 | COL11A1 |
| Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A | 1 | 102.0× | 0.016 | CHEK2 |
| Assembly of collagen fibrils and other multimeric structures | 1 | 100.2× | 0.016 | COL11A1 |
| Collagen degradation | 1 | 87.8× | 0.016 | COL11A1 |
| Collagen biosynthesis and modifying enzymes | 1 | 85.2× | 0.016 | COL11A1 |
| Non-integrin membrane-ECM interactions | 1 | 77.2× | 0.016 | COL11A1 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 1 | 73.2× | 0.016 | CHEK2 |
| G2/M DNA damage checkpoint | 1 | 60.1× | 0.017 | CHEK2 |
| Regulation of TP53 Activity through Phosphorylation | 1 | 58.9× | 0.017 | CHEK2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| negative regulation of DNA damage checkpoint | 1 | 2808.7× | 0.006 | CHEK2 |
| tendon development | 1 | 2106.5× | 0.006 | COL11A1 |
| mitotic DNA damage checkpoint signaling | 1 | 2106.5× | 0.006 | CHEK2 |
| cellular response to bisphenol A | 1 | 1685.2× | 0.006 | CHEK2 |
| response to glycoside | 1 | 1203.7× | 0.006 | CHEK2 |
| proteoglycan metabolic process | 1 | 936.2× | 0.006 | COL11A1 |
| positive regulation of anoikis | 1 | 936.2× | 0.006 | CHEK2 |
| thymocyte apoptotic process | 1 | 702.2× | 0.006 | CHEK2 |
| regulation of autophagosome assembly | 1 | 561.7× | 0.006 | CHEK2 |
| replicative senescence | 1 | 495.6× | 0.006 | CHEK2 |
| chondrocyte development | 1 | 468.1× | 0.006 | COL11A1 |
| mitotic intra-S DNA damage checkpoint signaling | 1 | 468.1× | 0.006 | CHEK2 |
| detection of mechanical stimulus involved in sensory perception of sound | 1 | 468.1× | 0.006 | COL11A1 |
| cellular response to stress | 1 | 421.3× | 0.006 | CHEK2 |
| regulation of protein catabolic process | 1 | 421.3× | 0.006 | CHEK2 |
| signal transduction in response to DNA damage | 1 | 401.2× | 0.006 | CHEK2 |
| cartilage condensation | 1 | 383.0× | 0.006 | COL11A1 |
| ventricular cardiac muscle tissue morphogenesis | 1 | 351.1× | 0.007 | COL11A1 |
| cellular response to gamma radiation | 1 | 300.9× | 0.007 | CHEK2 |
| endodermal cell differentiation | 1 | 247.8× | 0.008 | COL11A1 |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 1 | 247.8× | 0.008 | CHEK2 |
| DNA damage checkpoint signaling | 1 | 195.9× | 0.009 | CHEK2 |
| embryonic skeletal system morphogenesis | 1 | 195.9× | 0.009 | COL11A1 |
| regulation of signal transduction by p53 class mediator | 1 | 191.5× | 0.009 | CHEK2 |
| DNA damage response, signal transduction by p53 class mediator | 1 | 179.3× | 0.009 | CHEK2 |
| mitotic spindle assembly | 1 | 172.0× | 0.009 | CHEK2 |
| intrinsic apoptotic signaling pathway in response to DNA damage | 1 | 162.0× | 0.010 | CHEK2 |
| G2/M transition of mitotic cell cycle | 1 | 156.0× | 0.010 | CHEK2 |
| inner ear morphogenesis | 1 | 150.5× | 0.010 | COL11A1 |
| cellular response to xenobiotic stimulus | 1 | 120.4× | 0.011 | CHEK2 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 1
Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| CHEK2 | NERATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CHEK2 | 30 | 4 |
| COL11A1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| NERATINIB | 4 | CHEK2 |
| BOSUTINIB | 4 | CHEK2 |
| BRIGATINIB | 4 | CHEK2 |
| SUNITINIB | 4 | CHEK2 |
| GEFITINIB | 4 | CHEK2 |
| FASUDIL | 3 | CHEK2 |
| CEDIRANIB | 3 | CHEK2 |
| DOVITINIB | 3 | CHEK2 |
| LESTAURTINIB | 3 | CHEK2 |
| RUBOXISTAURIN | 3 | CHEK2 |
| DORAMAPIMOD | 2 | CHEK2 |
| FORETINIB | 2 | CHEK2 |
| SU-014813 | 2 | CHEK2 |
| CENISERTIB | 2 | CHEK2 |
| ILORASERTIB | 2 | CHEK2 |
| CEP-11981 | 2 | CHEK2 |
| DEFOSBARASERTIB | 2 | CHEK2 |
| PREXASERTIB | 2 | CHEK2 |
| BI-2536 | 2 | CHEK2 |
| UCN-01 | 2 | CHEK2 |
| PF-00562271 | 1 | CHEK2 |
| KW-2449 | 1 | CHEK2 |
| RG-1530 | 1 | CHEK2 |
| MLN-8054 | 1 | CHEK2 |
| PF-03758309 | 1 | CHEK2 |
| SRA-737 | 1 | CHEK2 |
| SNS-314 | 1 | CHEK2 |
| CYC-116 | 1 | CHEK2 |
| GSK-690693 | 1 | CHEK2 |
| AST-487 | 1 | CHEK2 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CHEK2 | 690 | Binding:687, Functional:2, ADMET:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CHEK2 | 2.7.11.1 | non-specific serine/threonine protein kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CHEK2 | 690 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| NERATINIB | 4 | CHEK2 |
| BOSUTINIB | 4 | CHEK2 |
| BRIGATINIB | 4 | CHEK2 |
| SUNITINIB | 4 | CHEK2 |
| GEFITINIB | 4 | CHEK2 |
| FASUDIL | 3 | CHEK2 |
| CEDIRANIB | 3 | CHEK2 |
| DOVITINIB | 3 | CHEK2 |
| LESTAURTINIB | 3 | CHEK2 |
| RUBOXISTAURIN | 3 | CHEK2 |
| DORAMAPIMOD | 2 | CHEK2 |
| FORETINIB | 2 | CHEK2 |
| SU-014813 | 2 | CHEK2 |
| CENISERTIB | 2 | CHEK2 |
| ILORASERTIB | 2 | CHEK2 |
| CEP-11981 | 2 | CHEK2 |
| DEFOSBARASERTIB | 2 | CHEK2 |
| PREXASERTIB | 2 | CHEK2 |
| BI-2536 | 2 | CHEK2 |
| UCN-01 | 2 | CHEK2 |
| PF-00562271 | 1 | CHEK2 |
| KW-2449 | 1 | CHEK2 |
| RG-1530 | 1 | CHEK2 |
| MLN-8054 | 1 | CHEK2 |
| PF-03758309 | 1 | CHEK2 |
| SRA-737 | 1 | CHEK2 |
| SNS-314 | 1 | CHEK2 |
| CYC-116 | 1 | CHEK2 |
| GSK-690693 | 1 | CHEK2 |
| AST-487 | 1 | CHEK2 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | CHEK2 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | COL11A1 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| COL11A1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.