|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CHK2
gptkb:RAD53
PP1425
|
|
gptkbp:associatedWith
|
gptkb:hereditary_breast_cancer
gptkb:Li-Fraumeni_syndrome
colorectal cancer
prostate cancer
|
|
gptkbp:biologicalProcess
|
apoptosis
DNA repair
cell cycle arrest
protein serine/threonine kinase activity
|
|
gptkbp:discoveredBy
|
Lee et al.
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
gptkb:CHK2_protein
|
|
gptkbp:Entrez_Gene_ID
|
11200
ENSG00000183765
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:checkpoint_kinase_2
|
|
gptkbp:function
|
gptkb:protein
DNA damage response
cell cycle checkpoint regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
16627
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CHEK2
|
|
gptkbp:length
|
15 exons
|
|
gptkbp:locatedOnChromosome
|
22
22q12.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
increased cancer risk
genomic instability
frameshift
|
|
gptkbp:OMIM
|
604373
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Chek2
|
|
gptkbp:pathway
|
ATM signaling pathway
DNA damage checkpoint pathway
|
|
gptkbp:PDB
|
2CN5
3I6U
3T8W
|
|
gptkbp:phosphorylates
|
gptkb:CDC25C
gptkb:BRCA1
gptkb:E2F1
gptkb:TP53
|
|
gptkbp:proteinFamily
|
serine/threonine-protein kinase
|
|
gptkbp:regulates
|
gptkb:CDC25C
gptkb:BRCA1
gptkb:E2F1
gptkb:TP53
|
|
gptkbp:UniProtID
|
O96017
|
|
gptkbp:bfsParent
|
gptkb:HGNC:1097
|
|
gptkbp:bfsLayer
|
6
|