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MGP001165

UniProt Annotations

Entry Information

Gene Name	GATA binding protein 6
Protein Entry	GATA6_HUMAN
UniProt ID	Q92908
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=Q92908-1; Sequence=Displayed; Name=2; IsoId=Q92908-2; Sequence=VSP_035778; Note=Produced by alternative initiation at Met-147 of isoform 1.;
Disease	Atrial septal defect 9 (ASD9) [MIM:614475]: 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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. {ECO:0000269\|PubMed:20631719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: 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. {ECO:0000269\|PubMed:20581743}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269\|PubMed:19666519}. Note=The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non- syndromic persistent truncus arteriosus (PubMed:19666519). {ECO:0000269\|PubMed:19666519}.
Disease	Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. {ECO:0000269\|PubMed:22158542}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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. {ECO:0000269\|PubMed:20581743, ECO:0000269\|PubMed:20631719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The GATA-type zinc fingers mediate interaction with LMCD1. {ECO:0000250}.
Function	Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation. Involved in gene regulation specifically in the gastric epithelium. Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). {ECO:0000250}.
Similarity	Contains 2 GATA-type zinc fingers. {ECO:0000255\|PROSITE-ProRule:PRU00094}.
Subcellular Location	Nucleus {ECO:0000269\|PubMed:19666519}.
Subunit	Interacts with LMCD1. {ECO:0000250}.
Tissue Specificity	Expressed in heart, gut and gut-derived tissues.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA6ID40690ch18q11.html";