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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)

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 a) murine leukemia virus b) polyomavirus enhancer c) T-cell receptor enhancers d) osteocalcin e) osteopontin f) bone sialoprotein g) collagen-1 alpha-1 h) LCK i) IL-3 j) 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: nucleus Alternative splicing: named isoforms=3 Expression: specifically expressed in osteoblasts Pathology: - defects in RUNX2 are the cause of cleidocranial dysplasia

General

core-binding factor [CBF]-alpha (PEBP2-alpha)

Properties

SIZE: entity length = 521 aa MW = 57 kD COMPARTMENT: cell nucleus MOTIF: glutamine-rich region {49-71} MOTIF: glutamine residue (SEVERAL) alanine-rich region {73-89} MOTIF: alanine residue (SEVERAL) Runt {101-229} threonine-rich region {237-521} MOTIF: threonine residue (SEVERAL) MYST3 interaction {336-439} MYST4 interaction {374-468}

Database Correlations

OMIM correlations MORBIDMAP 600211 UniProt Q13950 PFAM correlations Entrez Gene 860 Kegg hsa:860

References

  1. OMIM :accession 600211
  2. UniProt :accession Q13950
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RUNX2
  4. Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/RUNX2ID42183ch6p21.html