CHEK2 Gene (Protein Coding)

Checkpoint Kinase 2

GC22M028687
GIFtS:
54
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... See more...

Aliases for CHEK2 Gene

Aliases for CHEK2 Gene

  • Checkpoint Kinase 2 2 3 4 5
  • CDS1 2 3 4
  • CHK2 2 3 4
  • Serine/Threonine-Protein Kinase Chk2 3 4
  • CHK2 Checkpoint Homolog 3 4
  • Cds1 Homolog 3 4
  • HuCds1 2 3
  • PP1425 2 3
  • RAD53 3 4
  • HCds1 3 4
  • 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 51
  • BA444G7 2
  • Hucds1 4
  • CHEK2 5
  • LFS2 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]

CIViC Summary for CHEK2 Gene

GeneCards Summary for CHEK2 Gene

CHEK2 (Checkpoint Kinase 2) is a Protein Coding gene. Diseases associated with CHEK2 include Prostate Cancer and Li-Fraumeni Syndrome 2. Among its related pathways are Regulation of TP53 Activity and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups.

UniProtKB/Swiss-Prot Summary 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. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978).

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 all cells and act at all three cell cycle checkpoints.

Gene Wiki entry for CHEK2 Gene

Additional gene information for CHEK2 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHEK2 Gene

Genomics for CHEK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHEK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J028740 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 322 3.4 TBP ZBTB10 MXD4 SP1 FEZF1 SIX5 MNT IKZF1 SMAD5 ETS1 CHEK2 HSCB NONHSAG033620.2 KREMEN1 EWSR1 CCDC117 RFPL1S NF2 RASL10A NEFH
GH22J028708 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 28 +31.0 31045 4.9 MXD4 CEBPA BRCA1 THAP11 CEBPB FOXA2 ZNF639 MAX MAFF EP300 CHEK2 ENSG00000272858 TTC28 TTC28-AS1 HSALNG0134774 lnc-TTC28-1 HSCB
GH22J028441 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 23.6 +299.8 299822 2.8 CHD2 ZBTB10 IKZF1 ZFP64 CTCF NONO ZIC2 THAP11 SIN3A ZNF395 CHEK2 TTC28-AS1 TTC28 HE856189 MIR5739 PITPNB
GH22J028678 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.1 +62.7 62671 3.1 ZSCAN16 ZBTB10 CEBPA MNT ZIC2 THAP11 CEBPB SIN3B FOXA2 ZNF639 TTC28 TTC28-AS1 CHEK2 CCDC117 C22orf31 lnc-HSCB-7 PITPNB
GH22J028798 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 -57.9 -57863 7.8 TBP ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 POLR2A BHLHE40 ZNRF3 XBP1 ENSG00000272858 EWSR1 RFPL1S NF2 RASL10A TTC28 CHEK2 CCDC117
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHEK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHEK2

Top Transcription factor binding sites by QIAGEN in the CHEK2 gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • IRF-7A
  • p300
  • Pax-4a
  • STAT3

Genomic Locations for CHEK2 Gene

Latest Assembly
chr22:28,687,743-28,742,422
(GRCh38/hg38)
Size:
54,680 bases
Orientation:
Minus strand

Previous Assembly
chr22:29,083,731-29,137,822
(GRCh37/hg19 by Entrez Gene)
Size:
54,092 bases
Orientation:
Minus strand

chr22:29,083,731-29,138,410
(GRCh37/hg19 by Ensembl)
Size:
54,680 bases
Orientation:
Minus strand

Genomic View for CHEK2 Gene

Genes around CHEK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHEK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHEK2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHEK2 Gene

Proteins for CHEK2 Gene

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  • 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. Interacts (via protein kinase domain) with CCAR2 (via N-terminus). Interacts with SIRT1.
    Miscellaneous:
    • [Isoform 2]: Lacks enzymatic activity.
    • [Isoform 4]: Lacks enzymatic activity.
    • [Isoform 7]: Lacks enzymatic activity.
    • [Isoform 9]: Retains low level of catalytic activity.
    • [Isoform 10]: Lacks enzymatic activity.
    • [Isoform 12]: Lacks enzymatic activity.

    Three dimensional structures from OCA and Proteopedia for CHEK2 Gene

    Alternative splice isoforms for CHEK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHEK2 Gene

Protein Expression for CHEK2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHEK2 Gene

O96017:
  • IKITDFG
  • RDLKPEN
  • YLAPEVL

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

Other Protein References for CHEK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CHEK2

Domains & Families for CHEK2 Gene

Gene Families for CHEK2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CHEK2 Gene

InterPro:
Blocks:
  • Forkhead-associated (FHA)
ProtoNet:

Suggested Antigen Peptide Sequences for CHEK2 Gene

GenScript: Design optimal peptide antigens:
  • CHK2 checkpoint homolog (S. pombe) (B7ZBH9_HUMAN)
  • CHK2 checkpoint homolog (S. pombe) (B7ZBI0_HUMAN)
  • Cds1 (CHK2_HUMAN)
  • Protein kinase CHK2 (Q683Z8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96017

UniProtKB/Swiss-Prot:

CHK2_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CHK2 subfamily.
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

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Molecular function for CHEK2 Gene

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. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
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.

Enzyme Numbers (IUBMB) for CHEK2 Gene

Phenotypes From GWAS Catalog for CHEK2 Gene

Gene Ontology (GO) - Molecular Function for CHEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,TAS 9836640
GO:0005515 protein binding IEA,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

Human Phenotype Ontology for CHEK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHEK2 Gene

MGI Knock Outs for CHEK2:

Animal Models for research

miRNA for CHEK2 Gene

miRTarBase miRNAs that target CHEK2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHEK2

Clone products for research

  • Addgene plasmids for CHEK2

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHEK2 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
cytoskeleton 3
mitochondrion 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (1)
See all subcellular structures

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:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with CHEK2: view

Pathways & Interactions for CHEK2 Gene

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

Pathways by source for CHEK2 Gene

1 Sino Biological pathway for CHEK2 Gene
6 GeneGo (Thomson Reuters) pathways for CHEK2 Gene
  • Cell cycle Regulation of G1/S transition (part 1)
  • Cell cycle Role of 14-3-3 proteins in cell cycle regulation
  • DNA damage Role of SUMO in p53 regulation
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • DNA damage_DNA-damage-induced responses
1 Tocris pathway for CHEK2 Gene
12 Qiagen pathways for CHEK2 Gene
  • ATM Pathway
  • BRCA1 Pathway
  • Cell Cycle Control of Chromosomal Replication
  • Cellular Apoptosis Pathway
  • Chks in Checkpoint Regulation
1 Cell Signaling Technology pathway for CHEK2 Gene
3 GeneTex pathways for CHEK2 Gene

SIGNOR curated interactions for CHEK2 Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for CHEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint TAS 9889122
GO:0000086 G2/M transition of mitotic cell cycle IMP 16481012
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 18317453
genes like me logo Genes that share ontologies with CHEK2: view

Drugs & Compounds for CHEK2 Gene

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(44) Drugs for CHEK2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lacosamide Approved Pharma inhibitor Checkpoint kinase inhibitor,ATP competitive, Checkpoint kinase (Chk) inhibitor 95
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 62
Floxuridine Approved Pharma Antineoplastic antimetabolite, Inhibitor of thymidylate synthetase; anticancer agent, RNA and DNA synthesis inhibitor 59
Magnesium Approved, Experimental, Investigational Pharma 0

(17) Additional Compounds for CHEK2 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
DIM
1968-05-4
PD 407824
622864-54-4

(5) Tocris Compounds for CHEK2 Gene

Compound Action Cas Number
DIM Activates Chk2; induces G2/M cell cycle arrest 1968-05-4
NSC 109555 ditosylate Selective Chk2 inhibitor 66748-43-4
PD 407824 Selective inhibitor of Chk1 and Wee1 622864-54-4
SB 218078 Inhibitor of checkpoint kinase 1 (Chk1) 135897-06-2
TCS 2312 Potent Chk1 inhibitor 838823-31-7

(10) ApexBio Compounds for CHEK2 Gene

Compound Action Cas Number
AZD7762 Checkpoint kinase inhibitor,ATP competitive 860352-01-8
BML-277 Chk2 inhibitor,potent and highly selective 516480-79-8
CCT241533 Potent Chk2 inhibitor 1262849-73-9
CCT241533 hydrochloride CHK2 kinase inhibitor, novel 1431697-96-9
Floxuridine Antineoplastic antimetabolite 50-91-9
MK-8776 (SCH-900776) Chk1 inhibitor,potent and selective 891494-63-6
NSC 109555 ditosylate 66748-43-4
PF-477736 Chk1 inhibitor 952021-60-2
SCH900776 S-isomer Checkpoint kinase(Chk)inhibitor 891494-64-7
TCS 2312 838823-31-7
genes like me logo Genes that share compounds with CHEK2: view

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Transcripts for CHEK2 Gene

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mRNA/cDNA for CHEK2 Gene

5 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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Clone products for research

  • Addgene plasmids for CHEK2

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

Expression for CHEK2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHEK2 Gene

mRNA expression in normal human tissues for CHEK2 Gene
mRNA expression by BioGPS for CHEK2 GenemRNA expression by GTEx for CHEK2 Gene

Protein differential expression in normal tissues from HIPED for CHEK2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.1), Fetal ovary (15.9), and Plasma (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHEK2 Gene



Protein tissue co-expression partners for CHEK2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHEK2

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.

Evidence on tissue expression from TISSUES for CHEK2 Gene

  • Blood(4.5)
  • Muscle(4.3)
  • Intestine(2.9)
  • Skin(2.7)
  • Lung(2.4)
  • Nervous system(2.4)
  • Liver(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Kidney(2.2)
  • Stomach(2)
  • Thyroid gland(2)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHEK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • stomach
Pelvis:
  • pelvis
  • prostate
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 30 31
  • 99.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHEK2 30 31
  • 87.46 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHEK2 30 31
  • 85.89 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Chek2 30 17 31
  • 84.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chek2 30
  • 84.49 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CHEK2 31
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CHEK2 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CHEK2 30 31
  • 71.09 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia chek2 30
  • 64.36 (n)
Str.13489 30
African clawed frog
(Xenopus laevis)
 Amphibia Cds1 30
Zebrafish
(Danio rerio)
 Actinopterygii chek2 30 31
  • 59.98 (n)
 OneToOne
wufa66f08 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6405 30
Fruit Fly
(Drosophila melanogaster)
 Insecta lok 30 31 32
  • 49.1 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009784 30
  • 45.45 (n)
Worm
(Caenorhabditis elegans)
 Secernentea chk-2 30 31 32
  • 45.36 (n)
 OneToMany
T08D2.7 31 32
  • 32 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RAD53 30 31
  • 49.06 (n)
 OneToOne
DUN1 33
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACR142W 30
  • 48.39 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F11143g 30
  • 47.88 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6911 31
  • 39 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.14121 30
Species where no ortholog for CHEK2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHEK2: view image

Paralogs for CHEK2 Gene

(79) SIMAP similar genes for CHEK2 Gene using alignment to 12 proteins:

  • CHK2_HUMAN
  • B7ZBF2_HUMAN
  • B7ZBF6_HUMAN
  • B7ZBF7_HUMAN
  • B7ZBF8_HUMAN
  • C9JFD7_HUMAN
  • E7EPP1_HUMAN
  • F8WCV2_HUMAN
  • H0Y4V6_HUMAN
  • H0Y820_HUMAN
  • H7BZ30_HUMAN
  • H7C0V7_HUMAN

Pseudogenes.org Pseudogenes 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

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHEK2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
240738 Uncertain Significance: Familial cancer of breast 28,695,127(-) CT/AG
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer) 		MISSENSE
489874 Uncertain Significance: Hereditary cancer-predisposing syndrome 28,695,763(-) AG/CT
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu) 		MISSENSE
830294 Uncertain Significance: Hereditary breast and ovarian cancer syndrome 28,725,024(-) G/C
NM_007194.4(CHEK2):c.545C>G (p.Pro182Arg) 		MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
834636 Uncertain Significance: Familial cancer of breast 28,694,040(-) A/T
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg) 		MISSENSE
834705 Pathogenic: Familial cancer of breast 28,695,758(-) T/TAA
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CHEK2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2609e59 CNV duplication 20981092
esv22533 CNV gain 19812545
esv2661639 CNV deletion 23128226
esv3647516 CNV loss 21293372
esv3647517 CNV gain 21293372
nsv1061684 CNV loss 25217958
nsv1064079 CNV gain 25217958
nsv1064624 CNV gain 25217958
nsv459867 CNV loss 19166990
nsv517951 CNV loss 19592680
nsv588881 CNV loss 21841781
nsv834169 CNV loss 17160897
nsv962851 CNV duplication 23825009
nsv966097 CNV duplication 23825009
nsv9895 CNV gain+loss 18304495

Variation tolerance for CHEK2 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHEK2 Gene

Human Gene Mutation Database (HGMD)
CHEK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHEK2

SNP Genotyping and Copy Number Assays for research

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

Disorders for CHEK2 Gene

MalaCards: The human disease database

(63) MalaCards diseases for CHEK2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, somatic
li-fraumeni syndrome 2
  • lfs2
breast cancer
  • breast cancer, familial
osteogenic sarcoma
  • osteosarcoma; osrc
leiomyosarcoma
  • leiomyosarcomas
- elite association - COSMIC cancer census association via MalaCards
Search CHEK2 in MalaCards View complete list of genes associated with diseases

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 variants 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 variants 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:12454775, ECO:0000269 PubMed:12610780, ECO:0000269 PubMed:15818573, ECO:0000269 PubMed:21618645, ECO:0000269 PubMed:25619829}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for CHEK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CHEK2: view

No data available for Genatlas for CHEK2 Gene

Publications for CHEK2 Gene

  1. Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. (PMID: 15818573) van Puijenbroek M … Morreau H (The Journal of pathology 2005) 3 4 23 41
  2. Association of two mutations in the CHEK2 gene with breast cancer. (PMID: 15810020) Bogdanova N … Dörk T (International journal of cancer 2005) 3 4 23 41
  3. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. (PMID: 15649950) Shaag A … King MC (Human molecular genetics 2005) 3 4 41 74
  4. Limited relevance of the CHEK2 gene in hereditary breast cancer. (PMID: 15095295) Dufault MR … Arnold N (International journal of cancer 2004) 3 4 23 41</