UNIPROT #

Q13950

PROTEIN NAME

RUNX2

SYNONYMS

Acute myeloid leukemia 3 protein antibody; Alpha subunit 1 antibody; AML3 antibody; CBF alpha 1 antibody; CBF-alpha-1 antibody; CBFA1 antibody; CCD antibody; CCD1 antibody; Cleidocranial dysplasia 1 antibody; Core binding factor antibody; Core binding factor runt domain alpha subunit 1 antibody; Core binding factor subunit alpha 1 antibody; Core-binding factor subunit alpha-1 antibody; MGC120022 antibody; MGC120023 antibody; Oncogene AML 3 antibody; Oncogene AML-3 antibody; OSF 2 antibody; OSF-2 antibody; OSF2 antibody; Osteoblast specific transcription factor 2 antibody; Osteoblast-specific transcription factor 2 antibody; OTTHUMP00000016533 antibody; PEA2 alpha A antibody; PEA2-alpha A antibody; PEA2aA antibody; PEBP2 alpha A antibody; PEBP2-alpha A antibody; PEBP2A1 antibody; PEBP2A2 antibody; PEBP2aA antibody; PEBP2aA1 antibody; Polyomavirus enhancer binding protein 2 alpha A subunit antibody; Polyomavirus enhancer-binding protein 2 alpha A subunit antibody; Runt domain antibody; Runt related transcription factor 2 antibody; Runt-related transcription factor 2 antibody; RUNX2 antibody; RUNX2_HUMAN antibody; SL3 3 enhancer factor 1 alpha A subunit antibody; SL3-3 enhancer factor 1 alpha A subunit antibody; SL3/AKV core binding factor alpha A subunit antibody; SL3/AKV core-binding factor alpha A subunit antibody

TISSUE SPECIFICITY

Specifically expressed in osteoblasts.

POST-TRANSLATIONAL MODIFICATION

Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-340.

SUBCELLULAR LOCATION

Nucleus.

FUNCTION

The mammalian Runt-related transcription factor (RUNX) family comprises three members, RUNX1 (also designated AML-1, PEBP2αB, CBFA2), RUNX2 (also designated AML-3, PEBP2αA, CBFA1, Osf2) and RUNX3 (also designated AML-2, PEBPαC, CBFA3). RUNX family members are DNA-binding proteins that regulate the expression of genes involved in cellular differentiation and cell cycle progression. RUNX2 is essential for skeletal mineralization in that it stimulates osteoblast differentiation of mesenchymal stem cells, promotes chondrocyte hypertrophy and contributes to endothelial cell migration and vascular invasion of developing bones. Regulating RUNX2 expression may be a useful therapeutic tool for promoting bone formation. Mutations in the C-terminus of RUNX2 are associated with cleidocranial dysplasia syndrome, an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature.