External Ids for TBX20 Gene
Previous GeneCards Identifiers for TBX20 Gene
This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for TBX20 Gene
TBX20 (T-Box 20) is a Protein Coding gene. Diseases associated with TBX20 include Atrial Septal Defect 4 and Isolated Nonsyndromic Congenital Heart Disease/Defects. Among its related pathways are Cardiac Progenitor Differentiation and Heart Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription factor binding. An important paralog of this gene is TBX18.
UniProtKB/Swiss-Prot for TBX20 Gene
Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.