Gene
FOXL2
forkhead box L2
- HGNC 1092↗(opens in a new tab)
- Ensembl gene ENSG00000183770↗(opens in a new tab)
- NCBI Gene 668↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q22.3
- Coordinates
- Chromosome 3: 138,944,224–138,947,137 (GRCh38)
- Exons
- 1 exon across 2.9 kb
- Protein
- 376 amino acids
- Also known as
- BPES1
- Previous symbols
- BPES
- MANE Select transcript
- ENST00000648323.1NM_023067.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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Female Infertility
Diminished or absent ability of a female to achieve conception.
- 4 GenCC submitters rate it definitive or strong
How FOXL2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 2.9 kb; 1,131 of those bases code for the protein.
Sequencing FOXL2
10Moderate
How hard FOXL2 is to sequence with short reads, out of 100Each bar is the share of FOXL2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.15%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.77%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
69
positions in FOXL2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 2.9 kb of FOXL2, introns included, not only the 2.9 kb of exons.
Genes linked to the same conditions
- ANKRD31ankyrin repeat domain 31Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- BMP15bone morphogenetic protein 15Shares 1 condition
- BNC1basonuclin zinc finger protein 1Shares 1 condition
- CLPPcaseinolytic mitochondrial matrix peptidase proteolytic subunitShares 1 condition
- CYP19A1cytochrome P450 family 19 subfamily A member 1Shares 1 condition
- FANCMFA complementation group MShares 1 condition
- FIGLAfolliculogenesis specific bHLH transcription factorShares 1 condition
- FMR1fragile X messenger ribonucleoprotein 1Shares 1 condition
- FSHRfollicle stimulating hormone receptorShares 1 condition
- GALTgalactose-1-phosphate uridylyltransferaseShares 1 condition
- GDF9growth differentiation factor 9Shares 1 condition
Traits linked to FOXL2
The Human Phenotype Ontology lists these as features of the rare conditions FOXL2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Abnormal absence of menstruation
- Decreased fertility
- Early menopause
- Female infertility
- Light or infrequent menstrual periods
- Polycystic ovaries
- Previous menstrual periods stop
- Small uterus
Show 2 more traits
Abnormality of the eye
- Drooping upper eyelid
- Abnormality of refraction
- Decreased tear secretion
- Lazy eye
- Cross-eyed
- Involuntary, rapid, rhythmic eye movements
- Abnormally small eyeball
- Cornea of eye less than 10mm in diameter
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-e609d43e.
Cite this page
Dante Labs. (n.d.). FOXL2 gene: forkhead box L2. Retrieved 18 October 2026, from https://dantelabs.com/genes/foxl2
Dante Labs. FOXL2 gene: forkhead box L2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/foxl2
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