GATA5
Chr 20ADARGATA binding protein 5
Also known as: CHTD5, GATAS, bB379O24.1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GATA5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools