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 Preimplantation Embryo and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TBX2.
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.