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Gene

FOXE3

forkhead box E3

Summary

Cytogenetic location
1p33
Coordinates
Chromosome 1: 47,416,285–47,418,052 (GRCh38)
Exons
1 exon across 1.8 kb
Protein
319 amino acids
Inheritance
Autosomal dominant
Also known as
FREAC8
Previous symbols
FKHL12
MANE Select transcript
ENST00000335071.4NM_012186.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia

    • Anterior Segment Dysgenesis

      A group of developmental conditions of the front of the eye, including Peters anomaly, caused by changes in genes such as FOXC1, PITX3, FOXE3, CYP1B1 and CPAMD8.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      There is a high lifetime risk of glaucoma, so regular eye-pressure monitoring is recommended.

  • Aortic Aneurysm

    • Familial Thoracic Aortic Aneurysm 11 SusceptibilityAutosomal dominant

      An inherited susceptibility to thoracic aortic aneurysm and dissection linked to changes in FOXE3.

      • 1 GenCC submitter rates it definitive or strong
    • Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant

      Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.

      • ClinGen rates the link moderate
      What knowing changes

      Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How FOXE3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where FOXE3 sits. FOXE3 and 10 genes near it on chromosome 1, from 46,917,169 to 47,917,168.Chromosome 11p33p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4447 Mb47.2 Mb47.4 Mb47.6 Mb47.8 MbCYP4A11: 46,928,862–46,941,594, reverse strandCYP4A11CYP4X1: 47,023,593–47,050,751, forward strandCYP4X1CYP4Z1: 47,067,231–47,118,318, forward strandCYP4Z1CYP4A22: 47,137,388–47,174,328, forward strandCYP4A22PDZK1IP1: 47,183,582–47,191,398, reverse strandPDZK1IP1TAL1: 47,216,290–47,232,225, reverse strandTAL1STIL: 47,250,139–47,314,892, reverse strandSTILCMPK1: 47,333,780–47,409,050, forward strandCMPK1FOXE3: 47,416,285–47,418,052, forward strandFOXE3FOXD2: 47,438,044–47,440,691, forward strandFOXD2TRABD2B: 47,760,528–47,997,391, reverse strandTRABD2BDiagram of FOXE3: one exon on the forward strand of chromosome 1Exon 1: 23 known disease-causing sitesExon 1: 47,416,285–47,418,052, 1,768 bases15′3′

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 1.8 kb of the gene's 1.8 kb; 960 of those bases code for the protein.

How a genome test reads FOXE3

23

positions in FOXE3 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 1.8 kb of FOXE3, introns included, not only the 1.8 kb of exons.

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 2026-10-16: 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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FOXE3 gene: forkhead box E3. Retrieved 17 October 2026, from https://dantelabs.com/genes/foxe3

Vancouver

Dante Labs. FOXE3 gene: forkhead box E3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/foxe3

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