GATA4: a conserved and ubiquitous member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. May regulate a set of cardiac-specific genes and play a crucial role in cardiogenesis. Defects are a cause of atrial septal defect 2 (ASD2). ASD2 is an autosomal dominant condition with atrial septal defect and other congenital heart disease but no conduction defects or noncardiac abnormalities.
Protein type: Motility/polarity/chemotaxis; Transcription factor
Chromosomal Location of Human Ortholog: 8p23.1-p22
Cellular Component: nucleoplasm; nuclear chromatin; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; NFAT protein binding; transcription activator binding; DNA binding; zinc ion binding; sequence-specific DNA binding; transcription coactivator activity; chromatin binding; transcription factor binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; cardiac muscle hypertrophy; negative regulation of autophagy; embryonic heart tube anterior/posterior pattern formation; positive regulation of transcription, DNA-dependent; Sertoli cell differentiation; Wnt receptor signaling pathway through beta-catenin; BMP signaling pathway; regulation of transcription, DNA-dependent; cell-cell signaling; embryonic digestive tract morphogenesis; embryonic foregut morphogenesis; heart looping; positive regulation of BMP signaling pathway; positive regulation of cardiac muscle cell proliferation; response to drug; response to retinoic acid; in utero embryonic development; male gonad development; gastrulation with mouth forming second; positive regulation of angiogenesis; response to estrogen stimulus; endoderm formation; response to mechanical stimulus; positive regulation of cardioblast differentiation; spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; blood coagulation; endoderm development
Disease: Ventricular Septal Defect 1; Atrial Septal Defect 2; Tetralogy Of Fallot; Testicular Anomalies With Or Without Congenital Heart Disease; Atrioventricular Septal Defect 4
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