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FLASH GENE

Symbol

GATA5

contributors: mct - updated : 28-02-2017

HGNC name	GATA binding protein 5
HGNC id	15802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function epigenetic inactivation by methylation of CpG islands is an early frequent event during gastric carcinogenesis significantly correlated with H. pylori infection tumoral     --low   promoter hypermethylation may be an important mechanism of the transcriptional inactivation of ARRDC3, GATA5, and ELP3 in invasive ductal carcinomas (IDCs)

Susceptibility

to atrioventricular septal defects

Variant & Polymorphism

Candidate gene	candidate modifier gene for congenital heart disease
Marker
Therapy target

ANIMAL & CELL MODELS

	Gata4(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV), large ventricular septal defects (VSD) as well as hypertrophied mitral and tricuspid valves and aortic stenosis
	Gata6(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV) associated with subaortic VSDs