GATA6 - Transcription factor GATA-6 - human protein (Medical)
 
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GATA6 »  Transcription factor GATA-6
 
Protein also known as:  GATA-binding factor 6.
Gene name:  GATA6
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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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. 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 (PubMed19666519).  
1
  • CuratedUniProtKB
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. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
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. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
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. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
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. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Atrial septal defect, ostium secundum type  99103  
Complete atrioventricular canal - ventricle hypoplasia  99067  
Congenital diaphragmatic hernia  2140  
Familial atrial fibrillation  334  
Pancreatic hypoplasia - diabetes - congenital heart disease  2255  
Tetralogy of Fallot  3303  
 

Keywords

Disease 
Atrial septal defect  definition   [KW-0976]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2627
MIM: 187500
MIM: 614475
MIM: 614474
MIM: 600001
MIM: 217095
PharmGKB: PA28589
Polymorphism databases
DMDM: 215273987
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.