AlphaFold predicted structure
GATA5 · Q9BWX5
Mean pLDDT
58.9/ 100
Low
397 residues
Confidence breakdown
- Very high(≥ 90)22%
- Confident(70–90)4%
- Low(50–70)19%
- Very low(< 50)56%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GATA5
Chr 20q13.33GATA binding protein 5
- Aliases:
- bB379O24.1, GATAS
- MANE:
- ENST00000252997.3
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Familial non syndromic congenital heart disease
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPaediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital heart defects, multiple types, 5
0.76hypertensive disorder
0.51benign prostatic hyperplasia
0.45essential hypertension
0.40Increased blood pressure
0.40familial bicuspid aortic valve
0.39familial atrial fibrillation
0.38lower urinary tract symptom
0.38Tetralogy of Fallot
0.37neurodegenerative disease
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transcription factor GATA-5
Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888)
Diseases associated with GATA5
Curated MONDO disease pages that list GATA5 among their top associated genes.