GATA4 Chromosome 8
GATA binding protein 4
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What This Gene Does
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. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
8p23.1
Ensembl
ENSG00000136574
Associated Conditions (21)
Cardiovascular phenotype
Atrioventricular septal defect 4
Tetralogy of Fallot
Ventricular septal defect 1
Atrial septal defect 2
46
XY sex reversal 3
Microcephaly
Testicular anomalies with or without congenital heart disease
GATA4-related disorder
Neonatal insulin-dependent diabetes mellitus
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Congenital heart disease
Primary dilated cardiomyopathy
Inborn genetic diseases
Pulmonic stenosis
Tricuspid regurgitation
Pulmonary valve atresia
Brugada syndrome
Transposition of the great arteries
+1 more conditions
Key Variants
RS1053092495
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrioventricular septal defect 4, Cardiovascular phenotype
Health Risk
RS115099192
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Ventricular septal defect 1, Atrioventricular septal defect 4
Health Risk
RS116781972
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4
Health Risk
RS1182566703
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Atrioventricular septal defect 4, Cardiovascular phenotype
Health Risk
RS1282433424
Conflicting classifications of pathogenicity
Atrial septal defect 2, Atrioventricular septal defect 4, Atrial septal defect 2
Health Risk
RS1295769704
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4
Health Risk
RS1331416104
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Cardiovascular phenotype, GATA4-related disorder
Health Risk
RS139893755
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4
Health Risk
RS1405855570
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Atrioventricular septal defect 4
Health Risk
RS1453901762
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Atrioventricular septal defect 4
Health Risk
RS2130338262
Conflicting classifications of pathogenicity
Atrioventricular septal defect 4, Testicular anomalies with or without congenital heart disease, Atrioventricular septal defect 4
Health Risk
RS3729856
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrioventricular septal defect 4, Neonatal insulin-dependent diabetes mellitus
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1053092495 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Atrioventricular septal defect 4, Cardiovascular phenotype |
| RS115099192 | Health Risk | Conflicting classifications of pathogenicity | Tetralogy of Fallot, Ventricular septal defect 1, Atrioventricular septal defect 4 |
| RS116781972 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4 |
| RS1182566703 | Health Risk | Conflicting classifications of pathogenicity | Tetralogy of Fallot, Atrioventricular septal defect 4, Cardiovascular phenotype |
| RS1282433424 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 2, Atrioventricular septal defect 4, Atrial septal defect 2 |
| RS1295769704 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4 |
| RS1331416104 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, GATA4-related disorder |
| RS139893755 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4 |
| RS1405855570 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS1453901762 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2130338262 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Testicular anomalies with or without congenital heart disease, Atrioventricular septal defect 4 |
| RS3729856 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Atrioventricular septal defect 4, Neonatal insulin-dependent diabetes mellitus |
| RS387906769 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Tetralogy of Fallot, Ventricular septal defect 1 |
| RS387906772 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 2, GATA4-related disorder, Atrial septal defect 2 |
| RS549543886 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart disease, GATA4-related disorder, Congenital heart disease |
| RS55980825 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS56208331 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 2, Tetralogy of Fallot, Inborn genetic diseases |
| RS748737164 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 2, Atrioventricular septal defect 4, Atrial septal defect 2 |
| RS756903507 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Cardiovascular phenotype, Atrioventricular septal defect 4 |
| RS773626580 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Atrioventricular septal defect 4, Brugada syndrome |
| RS781143539 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS1249347695 | Health Risk | Likely pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS1585706802 | Health Risk | Likely pathogenic | — |
| RS2130313407 | Health Risk | Likely pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486974458 | Health Risk | Likely pathogenic | Testicular anomalies with or without congenital heart disease, Atrial septal defect 2, Testicular anomalies with or without congenital heart disease |
| RS2486974873 | Health Risk | Likely pathogenic | Atrial septal defect 2, Atrial septal defect 2 |
| RS2486975103 | Health Risk | Likely pathogenic | Atrial septal defect 2, Atrial septal defect 2 |
| RS104894073 | Health Risk | Pathogenic | Atrial septal defect 2, Transposition of the great arteries, Atrioventricular septal defect 4 |
| RS104894074 | Health Risk | Pathogenic | Atrial septal defect 2, Atrial septal defect 2 |
| RS1554498312 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS1585684790 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |
| RS1585703301 | Health Risk | Pathogenic | Atrial septal defect 2, Atrial septal defect 2 |
| RS1799991762 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4, Atrial septal defect 2 |
| RS2130068999 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2130307055 | Health Risk | Pathogenic | Atrial septal defect 2, Ventricular septal defect 1, Atrial septal defect 2 |
| RS2130313276 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486781068 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486966933 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486975023 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486996437 | Health Risk | Pathogenic | Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS368489876 | Health Risk | Pathogenic | Ventricular septal defect 1, Atrioventricular septal defect 4, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS398122402 | Health Risk | Pathogenic | Testicular anomalies with or without congenital heart disease, Testicular anomalies with or without congenital heart disease |
| RS864321698 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321700 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321701 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321702 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321703 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321704 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS864321705 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS180765750 | Health Risk | Pathogenic/Likely pathogenic | Atrial septal defect 2, Atrioventricular septal defect 4, Testicular anomalies with or without congenital heart disease |