GATA6

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]

GATA Binding Protein 6

Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924).

Regulates SEMA3C and PLXNA2 (PubMed:19666519).

Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713).

May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778).

Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity).

Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).

In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate (PubMed:33082341).

Animal organ formation Source: Ensembl
Atrioventricular canal development Source: BHF-UCL
Atrioventricular node development Source: BHF-UCL
Cardiac muscle cell differentiation Source: Ensembl
Cardiac muscle hypertrophy in response to stress Source: Ensembl
Cardiac vascular smooth muscle cell differentiation Source: UniProtKB
Cell fate commitment Source: GO_Central
Cellular response to BMP stimulus Source: Ensembl
Cellular response to gonadotropin stimulus Source: Ensembl
Cellular response to hypoxia Source: UniProtKB
Club cell differentiation Source: Ensembl
Endodermal cell fate determination Source: Ensembl
Epithelial cell differentiation Source: GO_Central
Intestinal epithelial cell differentiation Source: MGI
In utero embryonic development Source: Ensembl
Liver development Source: Ensembl
Lung saccule development Source: Ensembl
Male gonad development Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of sebum secreting cell proliferation Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Negative regulation of transforming growth factor beta1 production Source: UniProtKB
Negative regulation of transforming growth factor beta2 production Source: UniProtKB
Outflow tract septum morphogenesis Source: BHF-UCL
Pancreatic A cell differentiation Source: Ensembl
Phospholipid metabolic process Source: Ensembl
Positive regulation of angiogenesis Source: UniProtKB
Positive regulation of cardiac muscle cell proliferation Source: Ensembl
Positive regulation of cardiac muscle myoblast proliferation Source: BHF-UCL
Positive regulation of cardioblast differentiation Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transforming growth factor beta activation Source: UniProtKB
Regulation of antimicrobial humoral response Source: UniProtKB
Regulation of cell cycle Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to drug Source: UniProtKB
Response to estrogen Source: Ensembl
Response to growth factor Source: UniProtKB
Response to retinoic acid Source: UniProtKB
Sebaceous gland cell differentiation Source: UniProtKB
Skin epidermis development Source: UniProtKB
Smooth muscle cell differentiation Source: UniProtKB
Tube morphogenesis Source: Ensembl
Type B pancreatic cell differentiation Source: Ensembl
Type II pneumocyte differentiation Source: Ensembl

Nucleus

Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
Conotruncal heart malformations (CTHM):
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.
Atrial septal defect 9 (ASD9):
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.
Tetralogy of Fallot (TOF):
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.
Atrioventricular septal defect 5 (AVSD5):
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.
Pancreatic agenesis and congenital heart defects (PACHD):
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.