GATA5 Chromosome 20
GATA binding protein 5
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What This Gene Does
The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000130700
Associated Conditions (5)
Inborn genetic diseases
Congenital heart defects
multiple types
5
GATA5-related disorder
Key Variants
RS111554140
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital heart defects, multiple types
Health Risk
RS112433432
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 5
Health Risk
RS113823160
Conflicting classifications of pathogenicity
GATA5-related disorder, GATA5-related disorder
Health Risk
RS140317494
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 5
Health Risk
RS141050743
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 5
Health Risk
RS1452062094
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 5
Health Risk
RS200383755
Conflicting classifications of pathogenicity
GATA5-related disorder, Congenital heart defects, multiple types
Health Risk
RS572247741
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 5
Health Risk
RS781869793
Conflicting classifications of pathogenicity
Health Risk
RS782773387
Conflicting classifications of pathogenicity
Health Risk
RS1555896778
Pathogenic
Congenital heart defects, multiple types, 5
Health Risk
RS1555896779
Pathogenic
Congenital heart defects, multiple types, 5
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111554140 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital heart defects, multiple types |
| RS112433432 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 5 |
| RS113823160 | Health Risk | Conflicting classifications of pathogenicity | GATA5-related disorder, GATA5-related disorder |
| RS140317494 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 5 |
| RS141050743 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 5 |
| RS1452062094 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 5 |
| RS200383755 | Health Risk | Conflicting classifications of pathogenicity | GATA5-related disorder, Congenital heart defects, multiple types |
| RS572247741 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 5 |
| RS781869793 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782773387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555896778 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 5 |
| RS1555896779 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 5 |
| RS1555897088 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 5 |
| RS782051102 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 5 |