DISEASES

Disease-gene associations mined from literature

Literature associating GATA4 and tetralogy of Fallot

GATA4 [ENSP00000334458]

Transcription factor GATA-4; Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function. In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac- specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement. Required during testicular development. May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase; GATA zinc finger domain containing

Synonyms:  GATA4,  GATA4p,  hGATA4,  B2ZBW1,  B3KUF4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM