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<span>RUNX2 gene</span>
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</div>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/runx2/</span>
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<div class="page-title">
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<a name="start" id="start"></a>
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<h1 class="with-also">RUNX2 gene</h1>
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<span class="alsocalled">RUNX family transcription factor 2</span>
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</div>
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<div class="page-actions"></div>
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<div class="mp-exp exp-full" data-bookmark="function">
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<h2>Normal Function</h2>
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<section><div class="mp-content"><p>The <i>RUNX2</i> gene provides instructions for making a protein that is involved in the development and maintenance of the teeth, bones, and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.</p><p>The RUNX2 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) and in the development of teeth.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="conditions">
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<h2>Health Conditions Related to Genetic Changes</h2>
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<section>
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<div class="mp-content mp-exp exp-full">
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<h3>Cleidocranial dysplasia</h3>
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<p>About 200 mutations in the <i>RUNX2</i> gene have been identified in individuals with cleidocranial dysplasia, a condition that primarily affects development of the bones and teeth. 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, nonfunctional protein. Occasionally, the entire gene is missing.</p><p>These genetic changes reduce or eliminate the activity of the protein produced from one copy of the <i>RUNX2</i> gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with the normal development of bones, cartilage, and teeth, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, individuals with a deletion of genetic material that includes <i>RUNX2</i> and other nearby genes may experience additional features, such as developmental delay, resulting from the loss of these genes.</p>
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<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/">More About This Health Condition</a>
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||
</div>
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</section>
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<section>
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<div class="mp-content mp-exp exp-full">
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<h3>Other disorders</h3>
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<p>An extra copy (duplication) of a segment of the <i>RUNX2</i> gene causes a disorder called metaphyseal dysplasia, maxillary hypoplasia, and brachydactyly (MDMHB). This condition is characterized by abnormalities near the ends of long bones (metaphyses), an underdeveloped upper jawbone (maxilla), and short fingers (brachydactyly). Other skeletal abnormalities can also occur in this disorder. Research suggests that the extra genetic material in one copy of the <i>RUNX2</i> gene in each cell alters the function of the RUNX2 protein, and may interfere with the maturation of cells that build bones (osteoblasts). However, the relationship between the altered RUNX2 function and the specific signs and symptoms of MDMHB is unclear.</p>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Gene</h2>
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<section>
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<ul class="bulletlist">
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<li>CBF-alpha 1</li> <li>CBFA1</li> <li>CCD</li> <li>CCD1</li> <li>core-binding factor, runt domain, alpha subunit 1</li> <li>MGC120022</li> <li>MGC120023</li> <li>OSF2</li> <li>osteoblast-specific transcription factor 2</li> <li>PEBP2aA</li> <li>polyomavirus enhancer binding protein 2 alpha A subunit</li> <li>RUNX2_HUMAN</li> <li>SL3-3 enhancer factor 1 alpha A subunit</li> <li>SL3/AKV core-binding factor alpha A subunit</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Tests Listed in the Genetic Testing Registry</h2>
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<ul>
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<li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=860[geneid]" target="TheNewWin">Tests of RUNX2</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Scientific Articles on PubMed</h2>
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<ul>
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<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28RUNX2%5BTIAB%5D%29+OR+%28runt-related+transcription+factor+2%5BTIAB%5D%29%29+AND+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+360+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Catalog of Genes and Diseases from OMIM</h2>
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<ul>
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<li><a href="https://omim.org/entry/156510" target="TheNewWin">METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB</a></li>
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<li><a href="https://omim.org/entry/600211" target="TheNewWin">RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2</a></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Gene and Variant Databases</h2>
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||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/860" target="TheNewWin">NCBI Gene</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RUNX2[gene]" target="TheNewWin">ClinVar</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
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||
|
||
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|
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duplication in RUNX2 as pathogenic variant. Eur J Med Genet. 2014
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Nov-Dec;57(11-12):617-20. doi: 10.1016/j.ejmg.2014.09.010. <a href="https://pubmed.ncbi.nlm.nih.gov/25311905" target="TheNewWin">Citation on PubMed</a></li>
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<li>Bruderer M, Richards RG, Alini M, Stoddart MJ. Role and regulation of RUNX2 in
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<a href="https://pubmed.ncbi.nlm.nih.gov/25340806" target="TheNewWin">Citation on PubMed</a></li>
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<li>Bufalino A, Paranaiba LM, Gouvea AF, Gueiros LA, Martelli-Junior H, Junior JJ,
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<li>Cohen MM Jr. Biology of RUNX2 and Cleidocranial Dysplasia. J Craniofac Surg.
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<li>D'Alessandro G, Tagariello T, Piana G. Cleidocranial dysplasia: etiology and
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<li>Dincsoy Bir F, Dinckan N, Guven Y, Bas F, Altunoglu U, Kuvvetli SS, Poyrazoglu
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<a href="https://pubmed.ncbi.nlm.nih.gov/28027977" target="TheNewWin">Citation on PubMed</a></li>
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<li>Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P. Cleidocranial dysplasia
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Nov;90(5):393-402. doi: 10.1111/cge.12812. Epub 2016 Jun 30. <a href="https://pubmed.ncbi.nlm.nih.gov/27272193" target="TheNewWin">Citation on PubMed</a></li>
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<li>Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder.
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<a href="https://pubmed.ncbi.nlm.nih.gov/20301686" target="TheNewWin">Citation on PubMed</a></li>
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<li>Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber
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<li>Vimalraj S, Arumugam B, Miranda PJ, Selvamurugan N. Runx2: Structure,
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2015;78:202-8. doi: 10.1016/j.ijbiomac.2015.04.008. Epub 2015 Apr 13. <a href="https://pubmed.ncbi.nlm.nih.gov/25881954" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Wysokinski D, Pawlowska E, Blasiak J. RUNX2: A Master Bone Growth Regulator
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May;34(5):305-15. doi: 10.1089/dna.2014.2688. Epub 2015 Jan 2. <a href="https://pubmed.ncbi.nlm.nih.gov/25555110" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
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||
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|
||
<section><div class="side-section"><div class="mp-content"><div class="section-header"><h2>Genomic Location</h2></div><div class="section-body"><span>The <em>RUNX2</em> gene is found on <a data-pid="20041" href="https://medlineplus.gov/genetics/chromosome/6/">chromosome 6</a>.</span></div></div>
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