AlphaFold predicted structure
FOXE3 · Q13461
Mean pLDDT
65.0/ 100
Low
319 residues
Confidence breakdown
- Very high(≥ 90)22%
- Confident(70–90)10%
- Low(50–70)43%
- Very low(< 50)25%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
FOXE3
Chr 1p33forkhead box E3
- Aliases:
- FREAC8
- MANE:
- ENST00000335071.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGlaucoma (developmental)
BIALLELIC, autosomal or pseudoautosomalOcular coloboma
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalThoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
congenital primary aphakia
0.81cataract 34 multiple types
0.73Posterior polar cataract
0.67early-onset non-syndromic cataract
0.65anterior segment dysgenesis
0.64Ocular anterior segment dysgenesis
0.64Familial ocular anterior segment mesenchymal dysgenesis
0.61cataract
0.56familial thoracic aortic aneurysm and aortic dissection
0.51Peters anomaly
0.51
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Forkhead box protein E3
Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149)
Diseases associated with FOXE3
Curated MONDO disease pages that list FOXE3 among their top associated genes.