DISEASES

Disease-gene associations mined from literature

Literature associating RUNX2 and osteochondrodysplasia

RUNX2 [ENSP00000360493]

Polyomavirus enhancer-binding protein 2 alpha A subunit; Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. 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,  F6RGB9,  I3L0L0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM