core-binding factor [CBF]-alpha 1; runt-related transcription factor 2; RUNX2; acute myeloid leukemia 3 [AML3] protein; polyomavirus enhancer binding protein 2 alpha A subunit; PEBP2-alpha A; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit; osteoblast-specific transcription factor 2; OSF-2 (RUNX2, AML3, CBFA1, OSF2, PEBP2A)
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Function
- transcription factor
- role in osteoblastic differentiation & skeletal morphogenesis
- essential for maturation of osteoblasts & both intramembranous & endochondral ossification
- CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers & promoters, including
- murine leukemia virus
- polyomavirus enhancer
- T-cell receptor enhancers
- osteocalcin
- osteopontin
- bone sialoprotein
- collagen-1 alpha-1
- LCK
- IL-3
- GM-CSF promoters
- inhibits MYST4-dependent transcriptional activation
- interacts with HIVEP3 (putative)
- CBF-alpha subunit binds DNA as a monomer & through the Runt domain; DNA-binding is increased by heterodimerization
- interacts with G22P1 (Ku70) & XRCC5 (Ku80)
- interacts with MYST3 & MYST4
- phosphorylated; probably by MAP kinases (MAPK)
Structure
- heterodimer of an CBF-alpha & a CBF-beta subunit
- proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes & contains the phosphorylation sites
- contains 1 Runt domain
Compartment
Alternative splicing
named isoforms=3
Expression
specifically expressed in osteoblasts
Pathology
- defects in RUNX2 are the cause of cleidocranial dysplasia
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/600211
- ↑ UniProt http://www.uniprot.org/uniprot/Q13950.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RUNX2
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/RUNX2ID42183ch6p21.html