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AML3 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). Inhibits KAT6B-dependent transcriptional activation. Interaction with SATB2 results in enhanced DNA binding and transactivation by these transcription factors. Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3 and HIPK3. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with KAT6A and KAT6B. Binds to cyclin B1 CCNB1. Interacts with DDX5. Specifically expressed in osteoblasts. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: nuclear chromatin; nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: BMP signaling pathway; chondrocyte differentiation; hemopoiesis; negative regulation of transcription, DNA-dependent; neuron differentiation; ossification; osteoblast differentiation; positive regulation of transcription, DNA-dependent; regulation of cell differentiation; regulation of transcription from RNA polymerase II promoter
Disease: Cleidocranial Dysplasia; Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Reference #:  Q13950 (UniProtKB)
Alt. Names/Synonyms: Acute myeloid leukemia 3 protein; AML3; CBF-alpha 1; CBF-alpha-1; CBFA1; CCD; CCD1; Core-binding factor subunit alpha-1; core-binding factor, runt domain, alpha subunit 1; MGC120022; MGC120023; Oncogene AML-3; OSF-2; OSF2; Osteoblast-specific transcription factor 2; PEA2-alpha A; PEA2aA; PEBP2-alpha A; PEBP2A; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1; polyomavirus enhancer binding protein 2 alpha A subunit; Polyomavirus enhancer-binding protein 2 alpha A subunit; Runt-related transcription factor 2; RUNX2; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit
Gene Symbols: RUNX2
Molecular weight: 56,648 Da
Basal Isoelectric point: 9.03  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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