Summary of RUNX2
The gene codes for a protein, runt related transcription factor 2. Mutations are linked to the bone development disorder cleidocranial dysplasia (CCD) [R].
The Function of RUNX2
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) (By similarity). Inhibits KAT6B-dependent transcriptional activation.
Protein names
Recommended name:
Runt-related transcription factor 2Short name:
OSF-2Alternative name(s):
Acute myeloid leukemia 3 proteinCore-binding factor subunit alpha-1
CBF-alpha-1
Oncogene AML-3
Osteoblast-specific transcription factor 2
Polyomavirus enhancer-binding protein 2 alpha A subunit
PEA2-alpha A
PEBP2-alpha A
SL3-3 enhancer factor 1 alpha A subunit
SL3/AKV core-binding factor alpha A subunit
- RS10498760 (RUNX2) ??
- RS117787235 (RUNX2) ??
- RS1932040 (RUNX2) ??
- RS6904353 (RUNX2) ??
- RS7748231 (RUNX2) ??
- RS7771980 (RUNX2) ??
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Top Gene-Substance Interactions
RUNX2 Interacts with These Diseases
| Disease | Score |
Substances That Increase RUNX2
| Substances | Interaction | Organism | Category |
Substances That Decrease RUNX2
| Substances | Interaction | Organism | Category |
Advanced Summary
cleidocranial dysplasia More than 70 mutations in the RUNX2 gene have been identified in individuals with cleidocranial dysplasia. Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing. These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2.
The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts).
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Specifically expressed in osteoblasts.
Gene Pathways:
Molecular Function:
- Atp Binding
- Chromatin Binding
- Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
- Rna Polymerase Ii Core Promoter Sequence-Specific Dna Binding
- Rna Polymerase Ii Transcription Factor Activity, Sequence-Specific Dna Binding
- Transcriptional Activator Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
- Transcription Factor Activity, Sequence-Specific Dna Binding
Biological Processes:
- Bmp Signaling Pathway
- Cell Maturation
- Cellular Response To Bmp Stimulus
- Chondrocyte Development
- Chondrocyte Differentiation
- Embryonic Cranial Skeleton Morphogenesis
- Embryonic Forelimb Morphogenesis
- Endochondral Ossification
- Hemopoiesis
- Negative Regulation Of Smoothened Signaling Pathway
- Negative Regulation Of Transcription, Dna-Templated
- Neuron Differentiation
- Odontogenesis Of Dentin-Containing Tooth
- Ossification
- Osteoblast Development
- Osteoblast Differentiation
- Osteoblast Fate Commitment
- Positive Regulation Of Cell Proliferation
- Positive Regulation Of Chondrocyte Differentiation
- Positive Regulation Of Osteoblast Differentiation
- Positive Regulation Of Transcription, Dna-Templated
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter Involved In Cellular Response To Chemical Stimulus
- Regulation Of Cell Differentiation
- Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway
- Regulation Of Odontogenesis Of Dentin-Containing Tooth
- Regulation Of Transcription From Rna Polymerase Ii Promoter
- Stem Cell Differentiation
- T Cell Differentiation
- Cellular Response To Fibroblast Growth Factor Stimulus