AlphaFold predicted structure
FOXE1 · O00358
Mean pLDDT
60.1/ 100
Low
373 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)11%
- Low(50–70)26%
- Very low(< 50)46%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
FOXE1
Chr 9q22.33forkhead box E1
- Aliases:
- TTF-2, HFKH4
- MANE:
- ENST00000375123.5
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Choanal atresia
BIALLELIC, autosomal or pseudoautosomalCongenital hypothyroidism
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited non-medullary thyroid cancer
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Bamforth-Lazarus syndrome
0.78thyroid gland follicular carcinoma
0.49thyroid cancer, nonmedullary, 4
0.48thyroid gland carcinoma
0.47hypothyroidism
0.46congenital hypothyroidism
0.44familial papillary or follicular thyroid carcinoma
0.42multinodular goiter
0.39thyroid gland disorder
0.39cleft palate
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Forkhead box protein E1
Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression