TBX20 gene

T-box 20

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Atrial septal defect 4

From UniProt:

Atrial septal defect 4 (ASD4): A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. [MIM:611363]

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3

Molecular Location: base pairs 35,199,936 to 35,254,100 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3