Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
RUNX2 - RUNX family transcription factor 2
Function
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 860 | ENSG00000124813 | RUNX2 | Q13950 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000124813 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-04111 | JAG2 | down-regulates | RUNX2 | represses | R-3449 | 10 | 1 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-09508 | DOCK11 | down-regulates | RUNX2 | represses | R-3449 | 10 | 2 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-10948 | BMP5 | down-regulates | RUNX2 | represses | R-3449 | 10 | 2 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-11947 | CSMD1 | down-regulates | RUNX2 | represses | R-3449 | 10 | 2 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-16427 | SUSD5 | down-regulates | RUNX2 | represses | R-3449 | 10 | 2 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |
| CMF-27918 | CXorf22 | down-regulates | RUNX2 | represses | R-3449 | 10 | 2 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)TAS0612, LANATOSIDE C, DIGOXIN, ACETYLDIGITOXIN, OCRIPLASMIN, DIGITOXIN, DESLANOSIDE, ISTAROXIME |