Aliases for TBX3 Gene
External Ids for TBX3 Gene
Previous HGNC Symbols for TBX3 Gene
Previous GeneCards Identifiers for TBX3 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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for TBX3 Gene
TBX3 (T-Box 3) is a Protein Coding gene. Diseases associated with TBX3 include Ulnar-Mammary Syndrome and Holt-Oram Syndrome. Among its related pathways are Signaling pathways regulating pluripotency of stem cells. 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 TBX3 Gene
Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.