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Aliases for CHEK2 Gene

Aliases for CHEK2 Gene

  • Checkpoint Kinase 2 2 3 4
  • RAD53 3 4 6
  • CDS1 3 4 6
  • CHK2 3 4 6
  • CHK2 Checkpoint Homolog 3 4
  • Cds1 Homolog 3 4
  • HuCds1 3 4
  • HCds1 3 4
  • LFS2 3 6
  • Serine/Threonine-Protein Kinase Chk2 3
  • CHK2 (Checkpoint, S.Pombe) Homolog 2
  • CHK2 Checkpoint Homolog (S. Pombe) 2
  • Checkpoint-Like Protein CHK2 3
  • EC 2.7.11.1 4
  • EC 2.7.11 63
  • PP1425 3

External Ids for CHEK2 Gene

Previous HGNC Symbols for CHEK2 Gene

  • RAD53

Previous GeneCards Identifiers for CHEK2 Gene

  • GC22M025779
  • GC22M027408
  • GC22M029083
  • GC22M012048

Summaries for CHEK2 Gene

Entrez Gene Summary for CHEK2 Gene

  • 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]

GeneCards Summary for CHEK2 Gene

CHEK2 (Checkpoint Kinase 2) is a Protein Coding gene. Diseases associated with CHEK2 include chek2-related susceptibility to breast cancer and li-fraumeni syndrome, chek2-related. Among its related pathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein homodimerization activity and protein serine/threonine kinase activity.

UniProtKB/Swiss-Prot for CHEK2 Gene

  • 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. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at Ser-20 by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells.

Tocris Summary for CHEK2 Gene

  • Checkpoint kinases (Chks) are serine/threonine kinases that are involved in the control of the cell cycle. Two subtypes have so far been identified, Chk1 and Chk2. They are essential components to delay cell cycle progression in normal and damaged cells and can act at all three cell cycle checkpoints. Chks are activated by phosphorylation. ATR kinase phosphorylates Chk1 in response to single strand DNA breaks and ATM kinase phosphorylates Chk2 in response to double strand breaks. Chks phosphorylate Cdc25 phosphatase at Ser216, which leads to Cdc25 sequestration in the cytoplasm. Therefore Cdc25 cannot remove the inhibitory phosphorylation on mitotic promoting factor (MPF) and entry into mitosis is prohibited. In addition, Chks have a role in the physiological stress of hypoxia/reoxygenation.

Gene Wiki entry for CHEK2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHEK2 Gene

Genomics for CHEK2 Gene

Regulatory Elements for CHEK2 Gene

Genomic Location for CHEK2 Gene

Start:
28,687,743 bp from pter
End:
28,742,422 bp from pter
Size:
54,680 bases
Orientation:
Minus strand

Genomic View for CHEK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHEK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHEK2 Gene

Proteins for CHEK2 Gene

  • Protein details for CHEK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96017-CHK2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Chk2
    Protein Accession:
    O96017
    Secondary Accessions:
    • A8K3Y9
    • B7ZBF3
    • B7ZBF4
    • B7ZBF5
    • Q6QA03
    • Q6QA04
    • Q6QA05
    • Q6QA06
    • Q6QA07
    • Q6QA08
    • Q6QA10
    • Q6QA11
    • Q6QA12
    • Q6QA13
    • Q9HBS5
    • Q9HCQ8
    • Q9UGF0
    • Q9UGF1

    Protein attributes for CHEK2 Gene

    Size:
    543 amino acids
    Molecular mass:
    60915 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. Homodimerization is part of the activation process but the dimer may dissociate following activation. Interacts with PML. Interacts with TP53. Interacts with RB1; phosphorylates RB1. Interacts with BRCA1. Interacts (phosphorylated at Thr-68) with MDC1; requires ATM-mediated phosphorylation of CHEK2. Interacts with TP53BP1; modulates CHEK2 phosphorylation at Thr-68 in response to ionizing radiation. Interacts with CDC25A; phosphorylates CDC25A and mediates its degradation in response to ionizing radiation. Interacts with CUL1; mediates CHEK2 ubiquitination and regulation. Interacts with CDKN2AIP.

    Three dimensional structures from OCA and Proteopedia for CHEK2 Gene

    Alternative splice isoforms for CHEK2 Gene

neXtProt entry for CHEK2 Gene

Proteomics data for CHEK2 Gene at MOPED

Selected DME Specific Peptides for CHEK2 Gene

Post-translational modifications for CHEK2 Gene

  • Phosphorylated. Phosphorylated at Ser-73 by PLK3 in response to DNA damage, promoting phosphorylation at Thr-68 by ATM and the G2/M transition checkpoint. Phosphorylation at Thr-68 induces homodimerization. Autophosphorylates at Thr-383 and Thr-387 in the T-loop/activation segment upon dimerization to become fully active and phosphorylate its substrates like for instance CDC25C. DNA damage-induced autophosphorylation at Ser-379 induces CUL1-mediated ubiquitination and regulates the pro-apoptotic function. Phosphorylation at Ser-456 also regulates ubiquitination. Phosphorylated by PLK4.
  • Ubiquitinated. CUL1-mediated ubiquitination regulates the pro-apoptotic function. Ubiquitination may also regulate protein stability. Ubiquitinated by RNF8 via Lys-48-linked ubiquitination
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for CHEK2 Gene

Gene Families for CHEK2 Gene

Suggested Antigen Peptide Sequences for CHEK2 Gene

Graphical View of Domain Structure for InterPro Entry

O96017

UniProtKB/Swiss-Prot:

CHK2_HUMAN :
  • O96017
Domain:
  • Contains 1 FHA domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CHK2 subfamily.
genes like me logo Genes that share domains with CHEK2: view

Function for CHEK2 Gene

Molecular function for CHEK2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: Activated through phosphorylation at Thr-68 by ATM in response to DNA double-strand breaks. Activation is modulated by several mediators including MDC1 and TP53BP1. Induces homodimerization with exchange of the T-loop/activation segment between protomers and transphosphorylation of the protomers. The autophosphorylated kinase dimer is fully active. Negatively regulated by PPM1D through dephosphorylation of Thr-68.
UniProtKB/Swiss-Prot Function: 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. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at Ser-20 by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells.

Enzyme Numbers (IUBMB) for CHEK2 Gene

Gene Ontology (GO) - Molecular Function for CHEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity TAS 9836640
GO:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding IPI 11298456
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CHEK2: view
genes like me logo Genes that share phenotypes with CHEK2: view

Animal Models for CHEK2 Gene

MGI Knock Outs for CHEK2:

miRNA for CHEK2 Gene

miRTarBase miRNAs that target CHEK2

No data available for Transcription Factor Targeting and HOMER Transcription for CHEK2 Gene

Localization for CHEK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHEK2 Gene

Isoform 2: Nucleus. Note=Isoform 10 is present throughout the cell.
Isoform 4: Nucleus.
Isoform 7: Nucleus.
Isoform 9: Nucleus.
Isoform 12: Nucleus.
Nucleus, PML body. Nucleus, nucleoplasm. Note=Recruited into PML bodies together with TP53.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHEK2 Gene COMPARTMENTS Subcellular localization image for CHEK2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CHEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IDA --
GO:0016605 PML body IDA 12402044
genes like me logo Genes that share ontologies with CHEK2: view

Pathways for CHEK2 Gene

genes like me logo Genes that share pathways with CHEK2: view

Gene Ontology (GO) - Biological Process for CHEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint TAS 10617473
GO:0000086 G2/M transition of mitotic cell cycle IMP 16481012
GO:0001302 replicative cell aging IMP 22851694
GO:0006302 double-strand break repair IMP 18317453
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CHEK2: view

Compounds for CHEK2 Gene

(5) ApexBio Compounds for CHEK2 Gene

Compound Action Cas Number
AZD7762 inhibitor of checkpoint kinases (Chks) [860352-01-8]
CCT241533 hydrochloride potent serine/threonine checkpoint kinase (Chk2) inhibitor. [1431697-96-9]
CHIR-124 potent inhibitor of Chk1 [405168-58-3]
LY2603618 highly selective Chk 1 inhibitor [911222-45-2]
MK-8776 (SCH-900776) potent and functionally selective inhibitor targeting Chk1. [891494-63-6]

(5) Tocris Compounds for CHEK2 Gene

Compound Action Cas Number
AZD 7762 hydrochloride Potent and selective ATP-competitive inhibitor of Chk1 and Chk2 [1246094-78-9]
NSC 109555 ditosylate Selective Chk2 inhibitor [66748-43-4]
PF 477736 Selective Chk1 inhibitor [952021-60-2]
SB 218078 Inhibitor of checkpoint kinase 1 (Chk1) [135897-06-2]
TCS 2312 Potent Chk1 inhibitor [838823-31-7]

(3) HMDB Compounds for CHEK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4

(39) Novoseek inferred chemical compound relationships for CHEK2 Gene

Compound -log(P) Hits PubMed IDs
debromohymenialdisine 90.9 6
sn 38 60.7 3
caffeine 56.6 11
neocarzinostatin 52 3
threonine 51.4 14
genes like me logo Genes that share compounds with CHEK2: view

Transcripts for CHEK2 Gene

Unigene Clusters for CHEK2 Gene

Checkpoint kinase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHEK2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: - - -
SP15:
SP16: - - - - -
SP17: - -

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - -
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for CHEK2 Gene

GeneLoc Exon Structure for
CHEK2
ECgene alternative splicing isoforms for
CHEK2

Expression for CHEK2 Gene

mRNA expression in normal human tissues for CHEK2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHEK2 Gene

SOURCE GeneReport for Unigene cluster for CHEK2 Gene Hs.291363

mRNA Expression by UniProt/SwissProt for CHEK2 Gene

O96017-CHK2_HUMAN
Tissue specificity: High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expression is found in other tissues
genes like me logo Genes that share expressions with CHEK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHEK2 Gene

Orthologs for CHEK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHEK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHEK2 35
  • 99.72 (n)
  • 99.49 (a)
CHEK2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHEK2 35
  • 85.89 (n)
  • 86.39 (a)
CHEK2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHEK2 35
  • 87.46 (n)
  • 88.08 (a)
CHEK2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chek2 35
  • 84.49 (n)
  • 87.58 (a)
Chek2 16
Chek2 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHEK2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHEK2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chek2 35
  • 84.49 (n)
  • 87.37 (a)
chicken
(Gallus gallus)
Aves CHEK2 35
  • 71.09 (n)
  • 71.52 (a)
CHEK2 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Cds1 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chek2 35
  • 64.36 (n)
  • 65.58 (a)
Str.13489 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6405 35
zebrafish
(Danio rerio)
Actinopterygii chek2 35
  • 59.98 (n)
  • 55.56 (a)
chek2 36
  • 52 (a)
OneToOne
wufa66f08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009784 35
  • 45.45 (n)
  • 36.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta lok 35
  • 49.1 (n)
  • 42.16 (a)
lok 36
  • 36 (a)
OneToOne
lok 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea chk-2 35
  • 45.36 (n)
  • 36.79 (a)
chk-2 36
  • 32 (a)
OneToMany
T08D2.7 36
  • 32 (a)
OneToMany
chk-2 37
  • 34 (a)
T08D2.7 37
  • 33 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR142W 35
  • 48.39 (n)
  • 41.19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUN1 38
RAD53 35
  • 49.06 (n)
  • 41.24 (a)
RAD53 36
  • 18 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11143g 35
  • 47.88 (n)
  • 35.14 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14121 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6911 36
  • 39 (a)
OneToOne
Species with no ortholog for CHEK2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHEK2 Gene

ENSEMBL:
Gene Tree for CHEK2 (if available)
TreeFam:
Gene Tree for CHEK2 (if available)

Paralogs for CHEK2 Gene

genes like me logo Genes that share paralogs with CHEK2: view

No data available for Paralogs for CHEK2 Gene

Variants for CHEK2 Gene

Sequence variations from dbSNP and Humsavar for CHEK2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs738722 -- 28,734,024(+) AGGCG(C/T)CAATC intron-variant
rs743184 -- 28,706,979(-) TCTCT(C/T)CGTTC intron-variant
rs743185 -- 28,707,229(-) TTTCC(C/T)AGTAT intron-variant
rs761954 -- 28,706,300(+) AGCTC(A/T)CACAC intron-variant
rs1018496 -- 28,732,025(+) caacc(C/T)ccacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHEK2 Gene

Variant ID Type Subtype PubMed ID
nsv459867 CNV Loss 19166990
nsv9895 CNV Gain+Loss 18304495
esv22533 CNV Gain 19812545
esv2661639 CNV Deletion 23128226
nsv834169 CNV Loss 17160897
nsv517951 CNV Loss 19592680

Relevant External Links for CHEK2 Gene

HapMap Linkage Disequilibrium report
CHEK2
Human Gene Mutation Database (HGMD)
CHEK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHEK2 Gene

Disorders for CHEK2 Gene

(4) OMIM Diseases for CHEK2 Gene (604373)

UniProtKB/Swiss-Prot

CHK2_HUMAN
  • Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]: A highly penetrant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. {ECO:0000269 PubMed:11719428}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:12533788}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Osteogenic sarcoma (OSRC) [MIM:259500]: A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:12094328, ECO:0000269 PubMed:21618645, ECO:0000269 PubMed:25619829}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. {ECO:0000269 PubMed:12094328}.

(3) University of Copenhagen DISEASES for CHEK2 Gene

(43) Novoseek inferred disease relationships for CHEK2 Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 89.3 48
li-fraumeni syndrome 81 16
nijmegen breakage syndrome 72.6 2
germ-line mutation 69.4 11
cancer 61.2 76

Relevant External Links for CHEK2

Genetic Association Database (GAD)
CHEK2
Human Genome Epidemiology (HuGE) Navigator
CHEK2
genes like me logo Genes that share disorders with CHEK2: view

Publications for CHEK2 Gene

  1. CHEK2 variants associate with hereditary prostate cancer. (PMID: 14612911) Seppaelae E.H. … Schleutker J. (Br. J. Cancer 2003) 3 4 23 48
  2. A novel founder CHEK2 mutation is associated with increased prostate cancer risk. (PMID: 15087378) Cybulski C. … Lubinski J. (Cancer Res. 2004) 3 4 23 48
  3. Limited relevance of the CHEK2 gene in hereditary breast cancer. (PMID: 15095295) Dufault M.R. … Arnold N. (Int. J. Cancer 2004) 3 4 23 48
  4. CHEK2 variant I157T may be associated with increased breast cancer risk. (PMID: 15239132) Kilpivaara O. … Nevanlinna H. (Int. J. Cancer 2004) 3 4 23 48
  5. CHEK2 is a multiorgan cancer susceptibility gene. (PMID: 15492928) Cybulski C. … Lubinski J. (Am. J. Hum. Genet. 2004) 3 4 23 48

Products for CHEK2 Gene

  • Addgene plasmids for CHEK2

Sources for CHEK2 Gene

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