ArticleIndian journal of pharmacology2024
Characterization of missense nonsynonymous single-nucleotide polymorphism of runt-related transcription factor-2 gene - An in silico approach.
Article in Indian journal of pharmacology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Association between MEF2A variants and ischemic stroke risk: a case-control study and two prospective cohort studies in a Chinese population.BMC cardiovascular disorders · 2026Article
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7 authors.
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Abstract
objectivesSingle-nucleotide polymorphism (SNP) codes for multiple amino acids, impacting protein functions and disease prognosis. Runt-related transcription factor-2 (RUNX2), a transcription factor linked to osteoblast differentiation, regulates cell proliferation in endothelium and osteoblastic cells. Understanding Runx2's role in nonosseous tissues is rapidly advancing. This study aims to identify harmful SNPs of the RUNX2 gene that may alter disease susceptibility using computational techniques.
methodsThe study uses various in silico methods to identify nonsynonymous SNPs (nsSNPs) of the RUNX2 gene, which could potentially alter protein structure and functions, with further analyses by I-Mutant, ConSurf, Netsurf 3.0, GeneMANIA, and Have (y)Our Protein Explained.
resultsSix missense nsSNPs were identified as potentially harmful, disease-causing, and damaging. Four were found to be unstable, while five were conserved. All six nsSNPs had a coiled secondary structure. Five nsSNPs were found to be destabilized.
conclusionThe RUNX2 gene's deleterious missense nsSNPs were identified by this study, and they may be exploited in future experimental studies. These high-risk nsSNPs might be considered target molecules in therapeutic and diagnostic therapies in teeth and bone development.
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