Gene: GATA5

Alternate names for this Gene: CHTD5|GATAS|bB379O24.1

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: GATA binding protein 5

Type of Gene: protein-coding

rs200383755 in GATA5 gene and Benign Prostatic Hyperplasia PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs1555896778 in GATA5 gene and CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 PMID 22641149 2012 Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.

PMID 23175127 2013 A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation.

PMID 24573614 2014 Somatic GATA5 mutations in sporadic tetralogy of Fallot.

PMID 23031282 2013 Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.

PMID 23289003 2013 GATA5 loss-of-function mutations underlie tetralogy of fallot.

PMID 22483626 2012 Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation.

PMID 25543888 2015 GATA5 loss-of-function mutation in familial dilated cardiomyopathy.

PMID 23295592 2012 Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation.

PMID 24638895 2014 GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.

PMID 22961344 2013 GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.

rs200383755 in GATA5 gene and Lower Urinary Tract Symptoms PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs6061555 in GATA5 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.