External Ids for TBX5 Gene
Previous HGNC Symbols for TBX5 Gene
Previous GeneCards Identifiers for TBX5 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 is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for TBX5 Gene
TBX5 (T-Box 5) is a Protein Coding gene. Diseases associated with TBX5 include Holt-Oram Syndrome and Aortic Valve Disease 2. Among its related pathways are Human Embryonic Stem Cell Pluripotency and Cardiac conduction. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is TBX4.
UniProtKB/Swiss-Prot for TBX5 Gene
DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).