FOXL2

Chr 3q22.3

forkhead box L2

Aliases:: BPES1
MANE:: ENST00000648323.1

OMIM: 605597 ↗NCBI: 668 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FOXL2 · P58012

v62025-08-01

Predicted Aligned Error matrix for FOXL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.1/ 100

Low

376 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)10%
Low(50–70)32%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Blepharophimosis ptosis and epicanthus inversus
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

blepharophimosis, ptosis, and epicanthus inversus syndrome
0.85
primary ovarian failure
0.60
blepharophimosis-ptosis-epicanthus inversus syndrome type 2
0.60
hereditary disease
0.52
Opitz G/BBB syndrome
0.52
genetic non-acquired premature ovarian failure
0.45
ovarian granulosa cell tumor
0.37
Ovarian Sertoli-Leydig Cell Tumor
0.37
ovarian epithelial tumor
0.36
Blepharophimosis
0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Forkhead box protein L2

Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2