CHEK2 Gene
protein-coding GIFtS: 73
GCID: GC22M029083
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|
checkpoint kinase 2(Previous names: CHK2 (checkpoint, S.pombe) homolog, CHK2 checkpoint homolog...)
(Previous symbol: RAD53)
| |
Aliases
for CHEK2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Checkpoint Kinase 21 2 3 | | LFS22 5 | | CDS11 2 3 5 | | BA444G71 | | CHK21 2 3 5 | | CHK2 (Checkpoint, S.Pombe) Homolog1 | | RAD531 2 3 5 | | CHK2 Checkpoint Homolog (S. Pombe)1 | | HuCds11 2 | | Checkpoint-Like Protein CHK22 | | PP14251 2 | | Serine/Threonine-Protein Kinase Chk22 | | Cds1 Homolog2 3 | | EC 2.7.11.13 | | CHK2 Checkpoint Homolog2 3 | | Hucds13 | | HCds11 | | EC 2.7.118 |
Export aliases for CHEK2 gene to outside databasesPrevious GC identifers: GC22M025779 GC22M027408 GC22M012048 |
Summaries
for CHEK2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CHEK2:
In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cellcycle 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 israpidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is knownto inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressorprotein 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-Fraumenisyndrome, 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. Thisnuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variantsencoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017Function: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation ofDNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cellcycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectorspreferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest throughphosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activityleads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Mayalso phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation ofBRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Alsostimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation andactivation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 andPML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation ofactive p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription ofpro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNAdamage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of thechromosomal instability observed in some cancer cells
 summary
for CHEK2: 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
|
Genomic Views
for CHEK2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHEK2 gene promoter:
AML1a p300 IRF-7A STAT3 CUTL1 Pax-4a C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHEK2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHEK2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q12.1 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1CHEK2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M029083: view genomic region
(about GC identifiers)
Start:
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29,083,731 bp from pter |
End:
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29,138,410 bp from pter |
Size:
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54,680 bases |
Orientation:
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minus strand |
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Proteins
for CHEK2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017 (See
protein sequence)Recommended Name: Serine/threonine-protein kinase Chk2 Size: 543 amino acids; 60915 Da
Cofactor: Magnesium
Subunit: Homodimer. Homodimerization is part of the activation process but the dimer may dissociate followingactivation. 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 withTP53BP1; 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; mediatesCHEK2 ubiquitination and regulation
Subcellular location: Isoform 2: Nucleus. Note=Isoform 10 is present throughout the cell
Subcellular location: Isoform 4: Nucleus
Subcellular location: Isoform 7: Nucleus
Subcellular location: Isoform 9: Nucleus
Subcellular location: Isoform 12: Nucleus
Subcellular location: Nucleus, PML body. Nucleus, nucleoplasm. Note=Recruited into PML bodies together with TP53
6/27 PDB 3D structures from  and Proteopedia  for CHEK2 (see all 27):1GXC (3D)
2CN5 (3D)
2CN8 (3D)
2W0J (3D)
2W7X (3D)
2WTC (3D)
Secondary accessions: A8K3Y9 B7ZBF3 B7ZBF4 B7ZBF5 Q6QA03 Q6QA04 Q6QA05 Q6QA06 Q6QA07 Q6QA08 Q6QA10Q6QA11 Q6QA12 Q6QA13 Q9HBS5 Q9HCQ8 Q9UGF0 Q9UGF1Alternative splicing: 13 isoforms: O96017-1 O96017-2 O96017-3 O96017-4 O96017-5 O96017-6 O96017-7 O96017-8 O96017-9 O96017-10 O96017-11 O96017-12 O96017-13 (Lacks enzymatic activity)Explore the universe of human proteins at neXtProt for CHEK2: NX_O96017
Post-translational modifications:
Phosphorylated. Phosphorylated at Ser-73 by PLK3 in response to DNA damage, promoting phosphorylation at Thr-68 by ATMand the G2/M transition checkpoint. Phosphorylation at Thr-68 induces homodimerization. Autophosphorylates at Thr-383and Thr-387 in the T-loop/activation segment upon dimerization to become fully active and phosphorylate its substrateslike for instance CDC25C. DNA damage-induced autophosphorylation at Ser-379 induces CUL1-mediated ubiquitination andregulates the pro-apoptotic function. Phosphorylation at Ser-456 also regulates ubiquitination. Phosphorylated by PLK41
Ubiquitinated. CUL1-mediated ubiquitination regulates the pro-apoptotic function. Ubiquitination may also regulateprotein stability. Ubiquitinated by RNF8 via 'Lys-48'-linked ubiquitination1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O96017
3 DME Specific Peptides for CHEK2 (O96017)
CHEK2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001005735.1 NP_001244316.1 NP_009125.1 NP_665861.1
ENSEMBL proteins: ENSP00000402225 ENSP00000416721 ENSP00000394430 ENSP00000329178 ENSP00000385747 ENSP00000386087 ENSP00000372023 ENSP00000403659 ENSP00000404567 ENSP00000412901 ENSP00000404400 ENSP00000384919 ENSP00000384835 ENSP00000397478 ENSP00000390244 ENSP00000396903 ENSP00000408065 ENSP00000387451 ENSP00000381099 ENSP00000329012 ENSP00000372021 ENSP00000372006 ENSP00000442458 ENSP00000372007 Reactome Protein details: O96017
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CHEK2 for ontologies About GeneDecksing
CHEK2 Antibody Products:
Assay Products for CHEK2: |
Protein
Domains /
Families
for CHEK2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHEK2 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O96017ProtoNet protein and cluster: O96017 1 Blocks protein family: IPB000253 Forkhead-associated (FHA)
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CHK2 subfamilySimilarity: Contains 1 FHA domainSimilarity: Contains 1 protein kinase domain |
Function
for CHEK2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017Function: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation ofDNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cellcycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectorspreferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest throughphosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activityleads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. Mayalso phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation ofBRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Alsostimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation andactivation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 andPML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation ofactive p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription ofpro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNAdamage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of thechromosomal instability observed in some cancer cellsCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: 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 theT-loop/activation segment between protomers and transphosphorylation of the protomers. The autophosphorylated kinasedimer is fully active. Negatively regulated by PPM1D through dephosphorylation of Thr-68Enzyme Numbers (IUBMB): EC 2.7.112 EC 2.7.11.11
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): CHEK2 (NM_007194) | |  | Sino Biological Human cDNA Clone for CHEK2 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHEK2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHEK2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHEK2 |
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
CHEK2 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for CHEK2:
Animal Models:
Mouse knock-outs for CHEK2: Chek2tm1Nmt Chek2tm1Mak
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Chek2):
CHEK2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CHEK2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/28 super-pathways (see all 28) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ubiquitinated Orc1 is degraded by the proteasome | | | 2 | Chks in Checkpoint Regulation | | | 3 | G2/M DNA damage checkpoint | | | 4 | Apoptotic Pathways in Synovial Fibroblasts | | | 5 | Cell cycle_Role of 14-3-3 proteins in cell cycle regulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 EMD Millipore Pathways for CHEK2 (see all 6)
5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHEK2 (see all 12)
2 
Cell Signaling Technology (CST) Pathways for CHEK2
1 Tocris Bioscience Pathway for CHEK2
5/6  GeneGo (Thomson Reuters) Pathways for CHEK2 (see all 6)
5/9  BioSystems Pathways for CHEK2 (see all 9)
5/8 
Reactome Pathways for CHEK2 (see all 8)
1  PharmGKB Pathway for CHEK2
2 
Kegg Pathways (Kegg details for CHEK2):
CHEK2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHEK2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/66 Interacting proteins for CHEK2 (O960171, 2, 3 ENSP000003720234) via UniProtKB, MINT, STRING, and/or I2D (see all 66)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| XRCC1 | P188872, 3, ENSP000002628874 | MINT-7295039 MINT-7294980 MINT-7294997 MINT-7294787 MINT-7295015 MINT-7295027 MINT-7294958 MINT-7294756 I2D:
score=1 STRING: ENSP00000262887 | | MDM2 | Q009872, 3, ENSP000004172814 | MINT-58600 MINT-58601 MINT-58598 MINT-58602 MINT-58599 MINT-58604 I2D:
score=3 STRING: ENSP00000417281 | | TP53 | P046372, 3, ENSP000002693054 | MINT-58603 MINT-13742 MINT-6806523 I2D:
score=4 STRING: ENSP00000269305 | | CDC25A | P303042, 3, ENSP000003037064 | MINT-17354 MINT-15591 I2D:
score=4 STRING: ENSP00000303706 | | AATF | Q9NY611, 3, ENSP000002254024 | EBI-1180783,EBI-372428 I2D:
score=4 STRING: ENSP00000225402 |
About this table
Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table
CHEK2 for ontologies About GeneDecksing
|
Drugs & Compounds
for CHEK2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CHEK2 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for CHEK2 |
Compounds for CHEK2 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| DIM | Activates Chk2; induces G2/M cell cycle arrest | [1968-05-4] | | NSC 109555 ditosylate | Selective Chk2 inhibitor | [15427-93-7] |
3 HMDB Compounds for CHEK2 About this table
10/39 Novoseek chemical compound relationships for CHEK2 gene (see all 39) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| debromohymenialdisine |
90.9 |
9 |
15078995 (1), 19177354 (1), 16794575 (1), 17616632 (1) (see all 6) |
| sn 38 |
60.7 |
3 |
15699047 (1), 15213307 (1), 16535772 (1) |
| caffeine |
56.6 |
12 |
15620706 (2), 14757171 (1), 19536869 (1), 19705844 (1) (see all 10) |
| neocarzinostatin |
52 |
4 |
12386164 (2), 12654916 (1) |
| threonine |
51.4 |
16 |
12805407 (2), 18287812 (2), 19879149 (1), 16596250 (1) (see all 12) |
| camptothecin |
51.3 |
6 |
15699047 (2), 16905549 (1), 19557000 (1), 16150728 (1) (see all 5) |
| irofulven |
49.3 |
15 |
17118344 (5), 15269203 (5) |
| aphidicolin |
46.2 |
3 |
16732333 (1), 17118344 (1) |
| se-methylselenocysteine |
43 |
2 |
15213307 (1), 16535772 (1) |
| serine |
41.3 |
15 |
19879149 (1), 16596250 (1), 16940182 (1), 12663536 (1) (see all 13) |
Search CenterWatch for drugs/clinical trials and news about CHEK2 / CHK2
|
Transcripts
for CHEK2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CHEK2 gene (4 alternative transcripts): NM_001005735.1 NM_001257387.1 NM_007194.3 NM_145862.2 Unigene Cluster for CHEK2: Checkpoint kinase 2 Hs.291363 [show with all ESTs]Unigene Representative Sequence: AF21797518/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27): ENST00000416671 ENST00000434810 ENST00000456369 ENST00000328354 ENST00000404276
ENST00000472807 ENST00000405598 ENST00000382580(uc003adt.1) ENST00000433028
ENST00000448511 ENST00000417588 ENST00000433728 ENST00000403642 ENST00000402731
ENST00000447421 ENST00000464581 ENST00000491919 ENST00000425190
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): CHEK2 (NM_007194) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHEK2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHEK2 |
Additional cDNA sequence: AB040105.1 AB164374.1 AF086904.1 AF096279.1 AF174135.1 AF217975.1 AJ131197.1 AJ783839.1 AK289360.1 AK290754.1 AY551295.1 AY551297.1 AY551299.1 AY551303.1 AY551304.1 BC004207.2 CR456418.1 20 DOTS entries: DT.92436481 DT.100881584 DT.100881588 DT.120637880 DT.40232891 DT.92436482 DT.401799 DT.92436483 DT.97779954 DT.100753434 DT.100881593 DT.102832620 DT.97839203 DT.100734571 DT.100842973 DT.100881586 DT.100695166 DT.100881578 DT.102832622 DT.92419123 24/54 AceView cDNA sequences (see all 54): BQ642442 CB046828 AA804625 BQ054405 AI141716 AI826906 BU069809 AI796137 BM811398 BC065569 AI739537 NM_172002 BI518530 AI203804 CR456462 BC000004 BU195420 BM852301 BG696148 BF686324 BE782421 BQ642066 AW250733 BQ430738
GeneLoc Exon Structure
5/17 Alternative Splicing Database (ASD) splice patterns (SP) for CHEK2 (see all 17) About this scheme
| 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: | | | | | | | | | | | | | | | - | | - | | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | - | | - | |
| ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CHEK2
|
Expression
for CHEK2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CHEK2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGCAGTGC
About this image
See CHEK2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHEK2
SOURCE GeneReport for Unigene cluster: Hs.291363
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017Tissue specificity: High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expressionis found in other tissues
SABiosciences Expression via Pathway-Focused PCR Arrays including CHEK2 (see all 8):
Primer
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Assay Products: |
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Orthologs
for CHEK2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CHEK2 gene from 5/27 species (see all 27) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CHEK21 |
CHK2 checkpoint homolog (S. pombe) |
71.23(n)
71.23(a) |
|
768913 NM_001080107.1 NP_001073576.1 |
African clawed frog
(Xenopus laevis) |
Amphibia |
Cds12 |
protein kinase Cds1 |
76.34(n) |
|
AF326574.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufa66f082 |
wufa66f08 |
71.81(n) |
|
336998 AF265346.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
lok1 , 3 |
cell cycle checkpoint protein
serine/threonine more3
loki1 |
42(a)3
49.2(n)1
41.63(a)1 |
|
2 38B23
352881 NM_057870.31 NP_477218.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
chk-21 , 3 |
Protein CHK-21 |
34(a)
(best of 2)3
46.03(n)1
35.98(a)1 |
|
V(19901240-19908076)3
1803041 NM_001029100.21 NP_001024271.11 |
ENSEMBL Gene Tree for CHEK2 (if available)
TreeFam Gene Tree for CHEK2 (if available) |
Paralogs
for CHEK2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHEK2 gene
18/81 SIMAP similar genes for CHEK2 using alignment to 12 protein entries: CHK2_HUMAN (see all proteins)
(see all similar genes):CHK2 AHSA1 OK/SW-cl.41 CLTA TM4SF19 MAPKAPK5
C14orf105 STK32A HUNK CAMK1D CAMK1G KIN27
PRKD2 PRKAA1 CAMK1 SEPSECS ULK3 PRKACA
CHEK2 for paralogs About GeneDecksing
5/7 Pseudogenes.org Pseudogenes for CHEK2 (see all 7)
PGOHUM00000238744 PGOHUM00000246957 PGOHUM00000248821 PGOHUM00000262934 PGOHUM00000246381
|
Genomic Variants
for CHEK2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHEK2 (29083731 - 29138410 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for CHEK2
6 CNVs: 73808 39313 91015 79537 32463 31088
Human Gene Mutation Database (HGMD): CHEK2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHEK2 |
|
Disorders
/ Diseases
for CHEK2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CHEK2 for disorders About GeneDecksing
OMIM gene information: 604373
OMIM disorders: 609265 259500 114480 176807
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017
Defects in CHEK2 are associated with Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]; a highly penetrant familialcancer phenotype usually associated with inherited mutations in p53/TP53 Defects in CHEK2 may be a cause of susceptibility to prostate cancer (PC) [MIM:176807]. It is a malignancyoriginating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of theprostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patientsinclude small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamouscell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma andneuroendocrine carcinoma Defects in CHEK2 are found in some patients with osteogenic sarcoma (OSRC) [MIM:259500] Defects in CHEK2 is a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancyoriginating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasiveductal 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 thanone locus can be involved in different families or even in the same case. Note=CHEK2 variants are associated withsusceptibility to breast cancer and contribute to a substantial fraction of familial breast cancer (PubMed:12094328)
20/83  diseases for CHEK2 (see all 83): About MalaCardsli-fraumeni syndrome breast cancer ataxia-telangiectasia-like disorder nijmegen breakage syndrome
diffuse large b-cell lymphoma human t-cell leukemia virus type 1 sarcoma cervical intraepithelial neoplasia
hypoxia b-cell lymphomas ataxia telangiectasia bilateral breast cancer
prolymphocytic leukemia non-hodgkin lymphoma squamous cell carcinoma osteosarcoma, somatic
breast-ovarian cancer t-cell prolymphocytic leukemia breast cancer susceptibility urinary bladder cancer
3 diseases from the University of Copenhagen DISEASES database for CHEK2:Breast cancer Li-Fraumeni syndrome Ovarian cancer 10/43 Novoseek disease relationships for CHEK2 gene (see all 43) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia telangiectasia |
89.3 |
60 |
12192050 (3), 11085506 (2), 16905549 (2), 16322218 (2) (see all 42) |
| li-fraumeni syndrome |
81 |
22 |
11053450 (2), 14648717 (1), 11248330 (1), 11011113 (1) (see all 15) |
| nijmegen breakage syndrome |
72.6 |
2 |
11438675 (1), 20173316 (1) |
| germ-line mutation |
69.4 |
12 |
17661168 (2), 14701743 (1), 11479205 (1), 16452051 (1) (see all 10) |
| cancer |
61.2 |
96 |
15361833 (4), 16024600 (3), 19876921 (3), 11746983 (3) (see all 52) |
| breast cancer |
54.6 |
128 |
11461078 (5), 16671833 (5), 11857075 (5), 18085035 (4) (see all 50) |
| bilateral breast cancer |
50.8 |
2 |
19372713 (2) |
| tumors |
45.6 |
105 |
12393693 (5), 15942682 (4), 17178848 (4), 16437383 (3) (see all 49) |
| colon carcinoma |
42.3 |
2 |
15326376 (1), 15048074 (1) |
| ovarian cancer |
42 |
16 |
14507240 (3), 19338682 (2), 16596250 (1), 17380889 (1) (see all 9) |
Genetic Association Database (GAD): CHEK2
Human Genome Epidemiology (HuGE) Navigator: CHEK2 (149 documents)
Export disorders for CHEK2 gene to outside databases
|
Publications
for CHEK2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CHEK2 gene, integrated from 9 sources (see all 719):
(articles sorted by number of sources associating them with CHEK2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Association of two mutations in the CHEK2 gene with breast cancer. (PubMed id 15810020)1, 2, 4, 9 Bogdanova N.... Doerk T. (2005)
- Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. (PubMed id 15818573)1, 2, 4, 9 van Puijenbroek M.... Morreau H. (2005)
- A novel founder CHEK2 mutation is associated with increased prostate cancer risk. (PubMed id 15087378)1, 2, 4, 9 Cybulski C.... Lubinski J. (2004)
- CHEK2 variants associate with hereditary prostate cancer. (PubMed id 14612911)1, 2, 4, 9 Seppaelae E.H.... Schleutker J. (2003)
- CHEK2 variant I157T may be associated with increased breast cancer risk. (PubMed id 15239132)1, 2, 4, 9 Kilpivaara O.... Nevanlinna H. (2004)
- Limited relevance of the CHEK2 gene in hereditary breast cancer. (PubMed id 15095295)1, 2, 4, 9 Dufault M.R.... Arnold N. (2004)
- CHEK2 is a multiorgan cancer susceptibility gene. (PubMed id 15492928)1, 2, 4, 9 Cybulski C.... Lubinski J. (2004)
- Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. (PubMed id 15535844)1, 2, 4, 9 Friedrichsen D.M....Ostrander E.A. (2004)
- Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. (PubMed id 15649950)1, 2, 4 Shaag A....King M.-C. (2005)
- CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. (PubMed id 12454775)1, 2, 4 Sodha N....Eeles R.A. (2002)
|
External Searches for CHEK2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CHEK2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CHEK2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CHEK2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CHEK2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for CHEK2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHEK2 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/chek2/ |
|
| | |
About This Section
| Patent Information for CHEK2 gene:
Search GeneIP for patents involving CHEK2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CHEK2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for CHEK2 | | OriGene shRNA RFP for CHEK2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHEK2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHEK2 | | | OriGene Protein Over-expression Lysate for CHEK2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHEK2 | | OriGene 3'-UTR Clone for CHEK2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHEK2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for CHEK2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
 |
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| |
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