Gene: GATA6

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: GATA binding protein 6

Type of Gene: protein-coding

rs387906816 in GATA6 gene and ATRIAL SEPTAL DEFECT 9 PMID 20631719 2010 A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

rs387906815 in GATA6 gene and ATRIOVENTRICULAR SEPTAL DEFECT 5 PMID 20581743 2010 Identification of GATA6 sequence variants in patients with congenital heart defects.

rs1555628863 in GATA6 gene and Atrial Septal Defects PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs387906813 in GATA6 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 19666519 2009 GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

rs1555628863 in GATA6 gene and Congenital diaphragmatic hernia PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

PMID 24385578 2014 In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot.

PMID 24385578 2014 In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect.

rs587777710 in GATA6 gene and Gastrointestinal malrotation PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs387906813 in GATA6 gene and HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES PMID 22158542 2011 GATA6 haploinsufficiency causes pancreatic agenesis in humans.

rs587777710 in GATA6 gene and Patent ductus arteriosus PMID 24385578 2014 The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

rs387906814 in GATA6 gene and Tetralogy of Fallot PMID 20631719 2010 A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

PMID 20581743 2010 Identification of GATA6 sequence variants in patients with congenital heart defects.

PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs587777710 in GATA6 gene and Totally absent pericardium PMID 24385578 2014 The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

rs587777710 in GATA6 gene and Ventricular Septal Defects PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.