DefinitionThis section has been translated automatically.
The RUNX2 gene (RUNX2 stands for: RUNX Family Transcription Factor 2) is a protein-coding gene located on chromosome 6p21.1. An important paralog of this gene is RUNX1.
General informationThis section has been translated automatically.
The RUNX2 gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with a Runt DNA binding domain. Runx2 is essential for osteoblast differentiation and chondrocyte maturation. During osteoblast differentiation, Runx2 is only weakly expressed in uncommitted mesenchymal cells, and its expression is upregulated in preosteoblasts, reaches the maximum level in immature osteoblasts and is downregulated in mature osteoblasts (Komori T 2019). The protein can bind DNA both as a monomer and, with higher affinity, as a subunit of a heterodimeric complex. In the N-terminal region of the encoded protein, there are two regions with potential trinucleotide repeat expansions.
You might also be interested in
Clinical pictureThis section has been translated automatically.
Diseases associated with RUNX2 include:
- Cleidocranial dysplasia 1
- and
- Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly.
A heterozygous mutation of Runx2 leads to open fontanelles and sutures, as more than half of the gene dosage of Runx2 is required for the induction of these genes in mesenchymal cells of the suture. Runx2 regulates the proliferation of osteoblast progenitor cells and their differentiation into osteoblasts via cross-regulation with Hedgehog, Fgf, Wnt and Pthlh signaling molecules and transcription factors, including Dlx5 and Sp7.
LiteratureThis section has been translated automatically.
- Cai XH et al. (2020) Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome. Zhongguo Shi Yan Xue Ye Xue Za Zhi 28:202-208.
- Giricz O et al. (2018) The RUNX1/IL-34/CSF-1R axis is an autocrinally regulated modulator of resistance to BRAF-V600E inhibition in melanoma. JCI Insight 3:e120422.
- Hong D et al. (2019) RUNX1-dependent mechanisms in biological control and dysregulation in cancer. J Cell Physiol 234:8597-8609.
- Hong D et al. (2017) Runx1 stabilizes the mammary epithelial cell phenotype and prevents epithelial to mesenchymal transition. Oncotarget 8:17610-17627.
- Komori T (2019) Regulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2. Int J Mol Sci 20:1694.
Lv W et al. (2021) Treatment of keloids through Runx2 siRNA-induced inhibition of the PI3K/AKT signaling pathway. Mol Med Rep 23:55.
