|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CHK2
Rad53
|
|
gptkbp:associatedWith
|
gptkb:hereditary_breast_cancer
gptkb:Li-Fraumeni_syndrome
colorectal cancer
prostate cancer
|
|
gptkbp:discoveredBy
|
Lee et al.
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
CHEK2 protein
|
|
gptkbp:Entrez_Gene_ID
|
11200
ENSG00000183765
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
Checkpoint kinase 2
|
|
gptkbp:function
|
gptkb:protein
tumor suppressor
DNA damage checkpoint regulation
|
|
gptkbp:HGNC_ID
|
16627
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Chek2
|
|
gptkbp:interactsWith
|
gptkb:CDC25C
gptkb:MDC1
gptkb:BRCA1
gptkb:TP53
ATM
|
|
gptkbp:locatedOnChromosome
|
22
22q12.1
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
1100delC
I157T
R117G
S428F
|
|
gptkbp:OMIM
|
604373
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Chek2
yeast Rad53
|
|
gptkbp:pathway
|
DNA damage response
p53 signaling pathway
cell cycle checkpoint control
|
|
gptkbp:phosphorylates
|
gptkb:CDC25C
gptkb:BRCA1
gptkb:E2F1
gptkb:p53
Serine 19
Threonine 68
|
|
gptkbp:proteinFamily
|
serine/threonine-protein kinase
|
|
gptkbp:regulates
|
apoptosis
DNA repair
cell cycle arrest
|
|
gptkbp:UniProtID
|
O96017
|
|
gptkbp:bfsParent
|
gptkb:CHEK2
|
|
gptkbp:bfsLayer
|
7
|