Gene: TBX20

Alternate names for this Gene: ASD4

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.2

Description of this Gene: T-box transcription factor 20

Type of Gene: protein-coding

rs137852954 in TBX20 gene and Atrial Septal Defect 4 PMID 19762328 2010 A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

PMID 17668378 2007 Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.

rs6959887 in TBX20 gene and Birth Weight PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

rs57812663 in TBX20 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12154802 in TBX20 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs58437978 in TBX20 gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs336284 in TBX20 gene and Suicide PMID 26079190 2015 A genome-wide association study of suicidal behavior.