GATA5

Chr 20

GATA binding protein 5

Also known as: CHTD5, GATAS, bB379O24.1

NCBI Gene: 140628 ENSG00000130700 UniProt: Q9BWX5

GATA5 encodes a transcription factor containing two GATA-type zinc fingers that is required during cardiovascular development and plays an important role in smooth muscle cell diversity. Mutations cause multiple types of congenital heart defects with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.629), consistent with its role in essential cardiac development.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital heart defects, multiple types, 5

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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