Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development (PubMed:24000169). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression (By similarity). 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 (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).
Involvement in disease
Atrial septal defect 2 Ventricular septal defect 1 Tetralogy of Fallot Atrioventricular septal defect 4 Testicular anomalies with or without congenital heart disease GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Contains 2 GATA-type zinc fingers.
Methylation at Lys-300 attenuates transcriptional activity.
All lanes : Anti-GATA4 antibody (ab227512) at 1/3000 dilution
Lane 1 : Non-transfected HeLa (human epithelial cell line from cervix adenocarcinoma) whole cell extract Lane 2 : GATA4 shRNA transfected HeLa (human epithelial cell line from cervix adenocarcinoma) whole cell extract