|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
|
|
gptkbp:discoveredBy
|
Stacey et al.
|
|
gptkbp:encodedBy
|
CBFB gene
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000109272
|
|
gptkbp:expressedIn
|
hematopoietic cells
|
|
gptkbp:formsComplexWith
|
gptkb:RUNX3
gptkb:RUNX1
RUNX2
|
|
gptkbp:formsFusionGeneWith
|
gptkb:MYH11
|
|
gptkbp:fullName
|
Core-binding factor subunit beta
|
|
gptkbp:function
|
transcription factor subunit
|
|
gptkbp:fusionProtein
|
CBFβ-MYH11
|
|
gptkbp:gene
|
CBFB
|
|
gptkbp:HGNC_ID
|
1542
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CBFβ
|
|
gptkbp:interactsWith
|
DNA (indirectly via RUNX proteins)
|
|
gptkbp:involvedInTranslocation
|
inv(16)(p13q22)
|
|
gptkbp:locatedOnChromosome
|
16q22.1
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:molecularWeight
|
~22 kDa
|
|
gptkbp:mutationAssociatedWith
|
leukemogenesis
|
|
gptkbp:OMIM
|
600003
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:PDB
|
1H9D
|
|
gptkbp:RefSeq
|
NM_001755
|
|
gptkbp:regulates
|
gene expression
|
|
gptkbp:role
|
hematopoiesis
bone development
|
|
gptkbp:UniProtID
|
Q13951
|
|
gptkbp:bfsParent
|
gptkb:RUNX1
|
|
gptkbp:bfsLayer
|
7
|