GATA6: Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation. Interacts with LMCD1. Expressed in heart, gut and gut-derived tissues. 2 isoforms of the human protein are produced by alternative initiation.
Protein type: Transcription factor; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 18q11.1-q11.2
Cellular Component: nucleoplasm; nucleus; transcription factor complex
Molecular Function: chromatin binding; protein binding; protein kinase binding; RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity; transcription factor binding; zinc ion binding
Biological Process: blood coagulation; cardiac muscle cell differentiation; cardiac muscle hypertrophy; cell development; cell fate commitment; cellular protein metabolic process; endodermal cell fate determination; in utero embryonic development; liver development; male gonad development; negative regulation of apoptosis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor-beta1 production; negative regulation of transforming growth factor-beta2 production; organ formation; phospholipid metabolic process; 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; response to drug; response to estrogen stimulus; smooth muscle cell differentiation; transcription from RNA polymerase II promoter; tube morphogenesis
Disease: Atrial Septal Defect 9; Atrioventricular Septal Defect 5; Conotruncal Heart Malformations; Heart Defects, Congenital, And Other Congenital Anomalies; Tetralogy Of Fallot
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