Mouse Anti-RUNX2 Recombinant Antibody (3F5) (CBMAB-R3866-CN)

RUNX2

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]

Runt Related Transcription Factor 2; Polyomavirus Enhancer-Binding Protein 2 Alpha A Subunit; SL3/AKV Core-Binding Factor Alpha A Subunit; Osteoblast-Specific Transcription Factor 2; SL3-3 Enhancer Factor 1 Alpha A Subunit; Runt-Related Transcription Factor 2; Acute Myeloid Leukemia 3 Protein; Oncogene AML-3; PEBP2-Alpha A; PEA2-Alpha A; CBF-Alpha-1; OSF-2;

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881).
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.

Biological Process BMP signaling pathwayISS:BHF-UCL
Biological Process cell maturationIEA:Ensembl
Biological Process cellular response to BMP stimulusISS:BHF-UCL
Biological Process chondrocyte developmentIEA:Ensembl
Biological Process chondrocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process embryonic cranial skeleton morphogenesisIEA:Ensembl
Biological Process embryonic forelimb morphogenesisIEA:Ensembl
Biological Process endochondral ossificationIEA:Ensembl
Biological Process epithelial cell proliferationIEA:Ensembl
Biological Process hemopoiesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ligamentous ossificationIEA:Ensembl
Biological Process negative regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of smoothened signaling pathwayIEA:Ensembl
Biological Process neuron differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process odontogenesis of dentin-containing toothIEA:Ensembl
Biological Process ossificationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process osteoblast developmentIEA:Ensembl
Biological Process osteoblast differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process osteoblast fate commitmentIEA:Ensembl
Biological Process positive regulation of chondrocyte differentiationIEA:Ensembl
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of epithelial cell proliferationIEA:Ensembl
Biological Process positive regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of stem cell proliferationIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusISS:BHF-UCL
Biological Process regulation of cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of fibroblast growth factor receptor signaling pathwayIEA:Ensembl
Biological Process regulation of odontogenesis of dentin-containing toothIEA:Ensembl
Biological Process regulation of ossificationIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to L-ascorbic acidIEA:Ensembl
Biological Process response to sodium phosphateIEA:Ensembl
Biological Process smoothened signaling pathwayIEA:Ensembl
Biological Process stem cell differentiationIEA:Ensembl
Biological Process stem cell proliferationIEA:Ensembl
Biological Process T cell differentiationIEA:Ensembl

Nucleus

Cleidocranial dysplasia (CLCD):
Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB):
An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.

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.