Gene Symbol | GATA4 |
Entrez Gene ID | 2626 |
Full Name | GATA binding protein 4 |
Synonyms | ASD2,TACHD,TOF,VSD1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a 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, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. |
Disorder MIM: | |
Disorder Html: | Atrial septal defect 2, 607941 (3); Ventricular septal defect 1, 614429 (3); Atrioventricular septal defect 4, 614430 (3); ?Testicular anomalies with or without congenital heart disease, 615542 (3); Tetralogy of Fallot, 187500 (3) |