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; nucleus
Molecular Function: chromatin binding; DNA binding; NFAT protein binding; protein binding; protein kinase binding; RNA polymerase II transcription factor activity, enhancer binding; sequence-specific DNA binding; transcription activator binding; transcription coactivator activity; transcription factor activity; transcription factor binding; zinc ion binding
Biological Process: anatomical structure formation; blood coagulation; BMP signaling pathway; cardiac muscle hypertrophy; cell development; cell fate commitment; cell-cell signaling; embryonic digestive tract morphogenesis; embryonic foregut morphogenesis; embryonic heart tube anterior/posterior pattern formation; endoderm development; endoderm formation; gastrulation with mouth forming second; heart looping; in utero embryonic development; male gonad development; negative regulation of autophagy; positive regulation of angiogenesis; positive regulation of BMP signaling pathway; positive regulation of cardiac muscle cell proliferation; positive regulation of cardioblast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; response to drug; response to estrogen stimulus; response to mechanical stimulus; response to vitamin A; Sertoli cell differentiation; spermatogenesis; transcription from RNA polymerase II promoter; Wnt receptor signaling pathway through beta-catenin
Disease: Atrial Septal Defect 2; Atrioventricular Septal Defect 4; Testicular Anomalies With Or Without Congenital Heart Disease; Tetralogy Of Fallot; Ventricular Septal Defect 1
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