External Ids for TBX2 Gene
Previous GeneCards Identifiers for TBX2 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for TBX2 Gene
TBX2 (T-Box 2) is a Protein Coding gene. Diseases associated with TBX2 include 17q23.1q23.2 microdeletion syndrome and ulnar-mammary syndrome. Among its related pathways are Heart Development and Inhibition of Ribosome Biogenesis by p14(ARF). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is TBX20.
UniProtKB/Swiss-Prot for TBX2 Gene
Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.