FOXE3 forkhead box E3
Gene ID: 2301, updated on 18-Sep-2024Gene type: protein coding
Also known as: AAT11; ASGD2; CATC3; FKHL12; FREAC8; CTRCT34
- See all available tests in GTR for this gene
- Go to complete Gene record for FOXE3
- Go to Variation Viewer for FOXE3 variants
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 | not available |
Cataract 34 multiple types | not available |
Congenital primary aphakia | not available |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2017-12-13) ClinGen Genome Curation PageTriplosensitivity 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
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FOXE3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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