2m9w | pdb_00002m9w

Solution NMR Structure of Transcription Factor GATA-4 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR4783B

spinqualitylabelsall models 2m9w Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 2m9w is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance. Ligands: ZN Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease GATA4_HUMAN Partial atrioventricular canal;Tetralogy of Fallot;Familial atrial fibrillation;8p23.1 microdeletion syndrome;46,XY partial gonadal dysgenesis;Complete atrioventricular canal;Atrial septal defect, ostium secundum type;Ventricular septal defect. Atrial septal defect 2 (ASD2) [MIM:607941: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry. Ventricular septal defect 1 (VSD1) [MIM:614429: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry. Tetralogy of Fallot (TOF) [MIM:187500: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. Note=The disease is caused by mutations affecting the gene represented in this entry. Atrioventricular septal defect 4 (AVSD4) [MIM:614430: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. Note=The disease is caused by mutations affecting the gene represented in this entry. Function GATA4_HUMAN Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement.

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