Summary of RUNX2

The gene codes for a protein, runt related transcription factor 2. Mutations are linked to the bone development disorder cleidocranial dysplasia (CCD) [R].


Function

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.

Protein names

Recommended name:

Runt-related transcription factor 2

Short name:

OSF-2

Alternative name(s):

Acute myeloid leukemia 3 protein
Core-binding factor subunit alpha-1
CBF-alpha-1
Oncogene AML-3
Osteoblast-specific transcription factor 2
Polyomavirus enhancer-binding protein 2 alpha A subunit
PEA2-alpha A
PEBP2-alpha A
SL3-3 enhancer factor 1 alpha A subunit
SL3/AKV core-binding factor alpha A subunit

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Top Gene-Substance Interactions

RUNX2 Interacts with These Diseases

Substances That Increase RUNX2

Substances That Decrease RUNX2

Advanced Summary

Conditions with Increased Gene Activity

Conditions with Decreased Gene Activity

Technical