InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GATA6

Summary

InnateDB Protein

IDBP-727742.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATA6

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000462313

InnateDB Gene

IDBG-1469 (GATA6)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19666519}.

Disease Associations

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:0000269PubMed: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:0000269PubMed:19666519}.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:0000269PubMed:20631719}. 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. {ECO:0000269PubMed:20581743, ECO:0000269PubMed:20631719}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:20581743}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:22158542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, gut and gut-derived tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	7 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008270	zinc ion binding
GO:0019901	protein kinase binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0003148	outflow tract septum morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007596	blood coagulation
GO:0008584	male gonad development
GO:0032911	negative regulation of transforming growth factor beta1 production
GO:0032912	negative regulation of transforming growth factor beta2 production
GO:0042493	response to drug
GO:0043066	negative regulation of apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0045766	positive regulation of angiogenesis
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051145	smooth muscle cell differentiation
GO:0060575	intestinal epithelial cell differentiation
GO:0060947	cardiac vascular smooth muscle cell differentiation
GO:0070848	response to growth factor
GO:0071158	positive regulation of cell cycle arrest
GO:0071456	cellular response to hypoxia