Statements (50)
| Predicate | Object |
|---|---|
| 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 |
transcription factor
bone development regulation of osteoblast differentiation |
| gptkbp:GOID |
GO:0048706
|
| gptkbp:HGNC_ID |
10472
|
| https://www.w3.org/2000/01/rdf-schema#label |
RUNX2 gene
|
| gptkbp:interactsWith |
gptkb:SMAD_proteins
HDACs CBFB protein |
| gptkbp:length |
521 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:6p21.1
|
| gptkbp:location |
gptkb:nucleus
|
| gptkbp:mutationAssociatedWith |
missense mutation
skeletal dysplasia 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
|