Gene: GATA4

Alternate names for this Gene: ASD2|TACHD|TOF|VSD1

Gene Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: GATA binding protein 4

Type of Gene: protein-coding

rs1405855570 in GATA4 gene and ATRIOVENTRICULAR SEPTAL DEFECT 4 PMID 12845333 2003 GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

PMID 15235040 2004 A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.

PMID 17643447 2007 Spectrum of heart disease associated with murine and human GATA4 mutation.

rs36038176 in GATA4 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs104894073 in GATA4 gene and Atrial septal defect 2 PMID 12845333 2003 GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

PMID 27984724 2016 Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.

PMID 15810002 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

PMID 18055909 2007 GATA4 sequence variants in patients with congenital heart disease.

PMID 17643447 2007 Spectrum of heart disease associated with murine and human GATA4 mutation.

PMID 20347099 2010 A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

PMID 20659440 2010 A novel mutation of GATA4 in a familial atrial septal defect.

rs10503425 in GATA4 gene and Congenital heart disease PMID 27426723 2017 Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

rs28447194 in GATA4 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs398122402 in GATA4 gene and TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE PMID 21220346 2011 Loss-of-function mutation in GATA4 causes anomalies of human testicular development.

rs17153755 in GATA4 gene and Testicular Germ Cell Tumor PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

rs6983129 in GATA4 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

rs104894073 in GATA4 gene and VENTRICULAR SEPTAL DEFECT 1 PMID 22101736 2012 A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.

PMID 21637914 2011 A novel GATA4 mutation responsible for congenital ventricular septal defects.

PMID 18672102 2009 GATA4 mutations in 486 Chinese patients with congenital heart disease.

PMID 21110066 2010 Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.