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FLASH GENE

Symbol

GATA6

contributors: mct - updated : 26-11-2014

HGNC name	GATA binding protein 6
HGNC id	4174

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OFTD , AVSD5 , ASD9 , PACHD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in malignant astrocytoma, high grade tumoral   amplification --over   amplification and overexpression contribute to the oncogenic phenotypes of pancreatic cancer constitutional germinal mutation       genetic cause of CHD through disruption of its direct regulation of semaphorin-plexin signaling involving the cardiac neural crest in the pathogenesis of cardiac outflow tract defects constitutional germinal mutation     loss of function in 56p100 individuals with pancreatic agenesis tumoral     --other   aberrant expression of GATA6 correlates with poor prognosis and liver metastasis in colorectal cancer tumoral     --over   in esophageal adenocarcinomas (EAC) constitutional     --over   hypomethylation is associated with overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome

Susceptibility

Variant & Polymorphism

Candidate gene	candidate lineage-specific oncogene in pancreatobiliary cancer, with implications for novel treatment strategies
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas RNA interference approach against GATA6 may be an effective therapeutic approach for treatment of pancreatic cancer (PMID: 23832791) cancer digestive oesophagus therapeutic deprivation of GATA6 in GATA6-amplified esophageal adenocarcinomas (EAC) patients may improve patient survival

ANIMAL & CELL MODELS

	regulating HNF, required for differentiation of visceral endoderm in mouse embryo
	Gata6(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV) associated with subaortic VSDs
	simultaneous deletion of both murine Gata4 and Gata6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell proliferation, defects in branching morphogenesis