FOXE3 forkhead box E3

Gene ID: 2301, updated on 5-Mar-2024
Gene type: protein coding
Also known as: AAT11; ASGD2; CATC3; FKHL12; FREAC8; CTRCT34

Summary

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Aortic aneurysm, familial thoracic 11, susceptibility to MedGen: C4479235OMIM: 617349GeneReviews: Heritable Thoracic Aortic Disease Overview	See labs
Cataract 34 multiple types MedGen: C2751822OMIM: 612968GeneReviews: Not available	See labs
Congenital primary aphakia MedGen: C1853230OMIM: 610256GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2017-12-13) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2017-12-13) ClinGen Genome Curation Page

Genomic context

Location:: 1p33

Sequence:: Chromosome: 1; NC_000001.11 (47416285..47418052)

Total number of exons:: 1

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FOXE3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FOXE3 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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