DISEASES

Disease-gene associations mined from literature

Literature associating RUNX2 and bone structure disease

RUNX2 [ENSP00000360493]

Runt-related transcription factor 2; 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.

Synonyms:  RUNX2,  RUNX2p,  hRUNX2,  A0A0D9SEN7,  A0A2R8Y7Z3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM