GENE REFERENCE / HGNC:1092

FOXL2

forkhead box L2

protein-coding gene3q22.3Gene information

What does this gene do?

The FOXL2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this role, the FOXL2 protein is called a transcription factor. The protein contains one area where a protein building block (amino acid) called alanine is repeated multiple times. This stretch of alanines is known as a polyalanine tract or poly(A) tract. The function of this poly(A) tract is unknown.

The FOXL2 protein is active in multiple tissues, including the eyelids, the ovaries, and a hormone-producing gland at the base of the brain called the pituitary. It is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the FOXL2 protein regulates the growth and division (proliferation) of hormone-producing ovarian cells called granulosa cells. This protein is also involved in the breakdown of fats, steroid hormones, and potentially harmful molecules called reactive oxygen species in the ovaries. The FOXL2 protein also plays a role in controlled cell death (apoptosis) in the ovaries.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2013-10.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 366
Submissions for variants in or overlapping this gene: 520
Submissions explicitly reporting this gene: 463
Alleles reported pathogenic / likely pathogenic: 191
VariationIDs with uncertain significance: 108
VariationIDs with conflicting classifications: 3

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about FOXL2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 191 alleles in FOXL2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in FOXL2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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