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. 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 2008].
Function:
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CSF 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 (By similarity). Inhibits MYST4-dependent transcriptional activation.
[SUBUNIT] Interaction with SATB2 results in enhanced DNA binding and transactivation by these transcription factors (By similarity). Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3 (By similarity). 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 MYST3 and MYST4.
Subunit:
Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with G22P1 (Ku70) and XRCC5 (Ku80). Interacts with MYST3 and MYST4.
Subcellular Location:
Nucleus.
Tissue Specificity:
Specifically expressed in osteoblasts.
Post-translational modifications:
Phosphorylated; probably by MAP kinases (MAPK). Isoform 3 is phosphorylated on Ser340.
DISEASE:
Defects in RUNX2 are the cause of cleidocranial dysplasia (CLCD) [MIM:119600]; also known as cleidocranial dysostosis (CCD). CLCD is an 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.
Similarity:
Contains 1 Runt domain.
SWISS:
Q13950
Gene ID:
860
Database links:
Entrez Gene: 860 Human
Entrez Gene: 12393 Mouse
Entrez Gene: 100155806 Pig
Entrez Gene: 367218 Rat
Omim: 600211 Human
SwissProt: Q13950 Human
SwissProt: Q9XSB7 Horse
SwissProt: Q08775 Mouse
SwissProt: Q9Z2J9 Rat
Unigene: 535845 Human
Unigene: 391013 Mouse
Unigene: 391017 Mouse
Unigene: 214214 Rat
Unigene: 83672 Rat
| Picture |
Blank control (blue line): U251 (fixed with 2% paraformaldehyde (10 min)and then permeabilized with 0.1% PBS-Tween for 20 min at room temperature).
Primary Antibody (green line): Rabbit Anti-RUNX2 antibody (SL20003R),Dilution: 1μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody (white blue line): Goat anti-rabbit IgG-PE,Dilution: 1μg /test.
Blank control:HL-60.
Primary Antibody (green line): Rabbit Anti-RUNX2 antibody (SL20003R)
Dilution: 1μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody : Goat anti-rabbit IgG-AF488
Dilution: 1μg /test.
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with 90% ice-cold methanol for 20 min at-20℃. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
Blank control:Molt4.
Primary Antibody (green line): Rabbit Anti-RUNX2 antibody (SL20003R)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody : Goat anti-rabbit IgG-FITC
Dilution: 1μg /test.
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with 90% ice-cold methanol for 20 min at-20℃. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
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