Aliases for TBX5 Gene
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 Transcription Factor 5) is a Protein Coding gene. Diseases associated with TBX5 include Holt-Oram Syndrome and Ventricular Septal Defect. Among its related pathways are Heart Development and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is TBX4.
UniProtKB/Swiss-Prot Summary 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:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).