|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
AML3
CBFA1
|
|
gptkbp:associatedWith
|
cleidocranial dysplasia
bone malformations
|
|
gptkbp:biologicalProcess
|
DNA binding
skeletal system development
transcriptional regulation
ossification
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for cleidocranial dysplasia
|
|
gptkbp:discoveredBy
|
Yoram Groner
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
RUNX2 protein
|
|
gptkbp:Entrez_Gene_ID
|
860
ENSG00000124813
|
|
gptkbp:expressedIn
|
bone tissue
osteoblasts
|
|
gptkbp:fullName
|
Runt-related transcription factor 2
|
|
gptkbp:function
|
gptkb:transcription_factor
bone development
regulation of osteoblast differentiation
|
|
gptkbp:GOID
|
GO:0048706
|
|
gptkbp:HGNC_ID
|
10472
|
|
gptkbp:interactsWith
|
gptkb:SMAD_proteins
HDACs
CBFB protein
|
|
gptkbp:length
|
521 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:6p21.1
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:mutationAssociatedWith
|
gptkb:skeletal_dysplasia
missense mutation
nonsense mutation
frameshift mutation
|
|
gptkbp:OMIM
|
600211
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Runx2 gene
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
gptkb:Wnt_signaling_pathway
|
|
gptkbp:product
|
RUNX2 protein
|
|
gptkbp:regulates
|
Runt domain family
bone sialoprotein gene
osteocalcin gene
regulated by BMP2
regulated by PTH
|
|
gptkbp:significance
|
pathogenic mutations cause cleidocranial dysplasia
|
|
gptkbp:symbol
|
RUNX2
|
|
gptkbp:UniProtID
|
Q13950
|
|
gptkbp:bfsParent
|
gptkb:chromosome_6_(human)
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RUNX2 gene
|