Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 11200
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CHEK2   Gene   UCSC   Ensembl
Aliases CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, hCds1
Gene name checkpoint kinase 2
Alternate names serine/threonine-protein kinase Chk2, CHK2 checkpoint homolog, cds1 homolog, checkpoint-like protein CHK2,
Gene location 22q12.1 (28741865: 28687742)     Exons: 22     NC_000022.11
Gene summary(Entrez) 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]
OMIM 604373

Protein Summary

Protein general information O96017  

Name: Serine/threonine protein kinase Chk2 (EC 2.7.11.1) (CHK2 checkpoint homolog) (Cds1 homolog) (Hucds1) (hCds1) (Checkpoint kinase 2)

Length: 543  Mass: 60,915

Tissue specificity: High expression is found in testis, spleen, colon and peripheral blood leukocytes. Low expression is found in other tissues.

Sequence MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIP
EDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREV
GPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKT
LGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIV
LELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKIL
GETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPE
VWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREG
EAEGAETTKRPAVCAAVL
Structural information
Protein Domains
FHA. (113-175)
Protein (220-486)
Interpro:  IPR020636 IPR000253 IPR011009 IPR000719 IPR008271 IPR008984
Prosite:   PS50006 PS50011 PS00108

Pfam:  
PF00498 PF00069

PDB:  
1GXC 2CN5 2CN8 2W0J 2W7X 2WTC 2WTD 2WTI 2WTJ 2XBJ 2XK9 2XM8 2XM9 2YCF 2YCQ 2YCR 2YCS 2YIQ 2YIR 2YIT 3I6U 3I6W 3VA4 4A9R 4A9S 4A9T 4A9U 4BDA 4BDB 4BDC 4BDD 4BDE 4BDF 4BDG 4BDH 4BDI 4BDJ 4BDK
PDBsum:   1GXC 2CN5 2CN8 2W0J 2W7X 2WTC 2WTD 2WTI 2WTJ 2XBJ 2XK9 2XM8 2XM9 2YCF 2YCQ 2YCR 2YCS 2YIQ 2YIR 2YIT 3I6U 3I6W 3VA4 4A9R 4A9S 4A9T 4A9U 4BDA 4BDB 4BDC 4BDD 4BDE 4BDF 4BDG 4BDH 4BDI 4BDJ 4BDK

DIP:  
24270
MINT:   124588
Other Databases GeneCards:  CHEK2;  Malacards:  CHEK2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0001302 replicative cell aging
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IEA biological_process
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006975 DNA damage induced protei
n phosphorylation
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0016605 PML body
IDA cellular_component
GO:0018105 peptidyl-serine phosphory
lation
IEA biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0035690 cellular response to drug
IEA biological_process
GO:0042176 regulation of protein cat
abolic process
IMP biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0044257 cellular protein cataboli
c process
IMP biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050821 protein stabilization
IDA biological_process
GO:0051301 cell division
IEA biological_process
GO:0071157 negative regulation of ce
ll cycle arrest
IEA biological_process
GO:0072428 signal transduction invol
ved in intra-S DNA damage
checkpoint
IMP biological_process
GO:0090307 mitotic spindle assembly
IMP biological_process
GO:0090399 replicative senescence
NAS biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:1902520 response to doxorubicin
IEA biological_process
GO:1903926 cellular response to bisp
henol A
IEA biological_process
GO:2000002 negative regulation of DN
A damage checkpoint
IEA biological_process
GO:2000210 positive regulation of an
oikis
IEA biological_process
GO:0000781 chromosome, telomeric reg
ion
IDA cellular_component
GO:0000077 DNA damage checkpoint
IEA biological_process
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001302 replicative cell aging
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IEA biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IEA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0006281 DNA repair
IEA biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006975 DNA damage induced protei
n phosphorylation
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007067 mitotic nuclear division
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0016301 kinase activity
IEA molecular_function
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016605 PML body
IEA cellular_component
GO:0016605 PML body
IDA cellular_component
GO:0016740 transferase activity
IEA molecular_function
GO:0018105 peptidyl-serine phosphory
lation
IEA biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0035690 cellular response to drug
IEA biological_process
GO:0042176 regulation of protein cat
abolic process
IMP biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IEA biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0044257 cellular protein cataboli
c process
IMP biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050821 protein stabilization
IDA biological_process
GO:0051301 cell division
IEA biological_process
GO:0071157 negative regulation of ce
ll cycle arrest
IEA biological_process
GO:0072428 signal transduction invol
ved in intra-S DNA damage
checkpoint
IMP biological_process
GO:0090307 mitotic spindle assembly
IMP biological_process
GO:0090399 replicative senescence
NAS biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:1902520 response to doxorubicin
IEA biological_process
GO:1903926 cellular response to bisp
henol A
IEA biological_process
GO:2000002 negative regulation of DN
A damage checkpoint
IEA biological_process
GO:2000210 positive regulation of an
oikis
IEA biological_process
GO:0000781 chromosome, telomeric reg
ion
IDA cellular_component
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000077 DNA damage checkpoint
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0001302 replicative cell aging
IMP biological_process
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
IDA molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0004674 protein serine/threonine
kinase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006468 protein phosphorylation
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006975 DNA damage induced protei
n phosphorylation
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IMP biological_process
GO:0016605 PML body
IDA cellular_component
GO:0019901 protein kinase binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0042176 regulation of protein cat
abolic process
IMP biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0044257 cellular protein cataboli
c process
IMP biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0072428 signal transduction invol
ved in intra-S DNA damage
checkpoint
IMP biological_process
GO:0090307 mitotic spindle assembly
IMP biological_process
GO:0090399 replicative senescence
NAS biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:0000781 chromosome, telomeric reg
ion
IDA cellular_component

KEGG pathways

hsa05166  HTLV-I infection
hsa04110  Cell cycle
hsa04115  p53 signaling pathway

Diseases

Associated diseases References
Atherosclerosis PMID: 19265784
Cancer PMID: 20729852
Diabetes PMID: 19855918
Endometriosis PMID: 25912412
Endometriosis INFBASE25912412

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25912412 Endometrio
sis

179 (59 endomet
rioid cancers,
36 clear cell c
ases, 18 contig
uous endometrio
sis cases, 66 b
enign endometri
otic ovarian cy
sts)
BAF250a
AKT
?H2AX
BIM
BAX
ATM
CHK2
Bcl2
Show abstract