Aliases TBX2 Human Mouse Ensembl ENSG00000121068 | Species Human Entrez 6909 | |
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External IDs MGI: 98494 HomoloGene: 38123 GeneCards: TBX2 | ||
T-box transcription factor TBX2 is a protein that in humans is encoded by the TBX2 gene.
Contents
Function
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene.
In melanocytic cell types, expression of the T-box 2 gene is regulated by the Microphthalmia-associated transcription factor.
Clinical Significance
A participant in the Undiagnosed Diseases Network (UDN) with DiGeorge syndrome (of unknown cause), was found to carry the following genetic variant in the TBX2 gene: c.59G>A/p.R20Q. Research is underway to see if this change is causing symptoms in this participant.