AlphaFold predicted structure
GATA3 · P23771
Mean pLDDT
58.1/ 100
Low
443 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)4%
- Low(50–70)25%
- Very low(< 50)53%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GATA3
Chr 10p14GATA binding protein 3
- Aliases:
- HDR
- MANE:
- ENST00000379328.9
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial hypoparathyroidism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
hypoparathyroidism-deafness-renal disease syndrome
0.82Hypoparathyroidism - deafness - renal disease
0.78breast adenocarcinoma
0.57asthma
0.56B-cell acute lymphoblastic leukemia
0.54neurodegenerative disease
0.54rheumatoid arthritis
0.52nasal cavity polyp
0.49Hodgkins lymphoma
0.48hereditary disease
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Trans-acting T-cell-specific transcription factor GATA-3
Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. Positively regulates ASB2 expression (By similarity). Coordinates macrophage transcriptional activation and UCP2-dependent metabolic reprogramming in response to IL33. Upon tissue injury, acts downstream of IL33 signaling to drive differentiation of inflammation-resolving alternatively activated macrophages
Diseases associated with GATA3
Curated MONDO disease pages that list GATA3 among their top associated genes.