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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:SETDB1
gptkb:ENX1
gptkb:KMT6
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:Weaver_syndrome
|
|
gptkbp:biologicalProcess
|
chromatin modification
histone-lysine N-methyltransferase activity
transcriptional repression
|
|
gptkbp:component
|
gptkb:Polycomb_Repressive_Complex_2_(PRC2)
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:Enhancer_of_zeste_homolog_2_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000106462
2146
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Enhancer_of_zeste_homolog_2
|
|
gptkbp:function
|
histone methyltransferase
|
|
gptkbp:GO_term
|
GO:0005634 (nucleus)
GO:0016571 (histone methylation)
|
|
gptkbp:HGNC_ID
|
gptkb:EZH2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EZH2 gene (human)
|
|
gptkbp:interactsWith
|
gptkb:EED
gptkb:AEBP2
gptkb:JARID2
gptkb:SUZ12
|
|
gptkbp:locatedOnChromosome
|
7q36.1
|
|
gptkbp:mutationAssociatedWith
|
oncogenic
nonsense
missense
frameshift
|
|
gptkbp:OMIM
|
601573
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Ezh2_(mouse)
gptkb:Ezh2_(zebrafish)
|
|
gptkbp:overexpressedIn
|
gptkb:cancer
leukemia
prostate cancer
|
|
gptkbp:proteinFamily
|
gptkb:CXC_domain
gptkb:SANT_domain
SET domain
|
|
gptkbp:RefSeq
|
NM_004456
|
|
gptkbp:regulates
|
gene silencing
H3K27 methylation
|
|
gptkbp:significance
|
pathogenic
likely pathogenic
|
|
gptkbp:target
|
gptkb:tazemetostat
small molecule inhibitors
|
|
gptkbp:UniProtID
|
gptkb:Q15910
|
|
gptkbp:bfsParent
|
gptkb:Ezh3_gene
|
|
gptkbp:bfsLayer
|
7
|