Foxe3 forkhead box E3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Foxe3provided by MGI
Official Full Name: forkhead box E3provided by MGI
Primary source: MGI:MGI:1353569
See related: Ensembl:ENSMUSG00000044518 AllianceGenome:MGI:1353569
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dyl; rct; FREAC8
Summary: Enables sequence-specific DNA binding activity. Involved in camera-type eye development; negative regulation of lens fiber cell differentiation; and positive regulation of lens epithelial cell proliferation. Acts upstream of or within camera-type eye development; cell development; and positive regulation of epithelial cell proliferation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; eye; and heart. Used to study congenital aphakia. Human ortholog(s) of this gene implicated in anterior segment dysgenesis; anterior segment dysgenesis 2; cataract 34 multiple types; and thoracic aortic aneurysm. Orthologous to human FOXE3 (forkhead box E3). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 4 52.73 cM; 4 D1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (114781640..114783264, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (114924443..114926067, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The aging mouse lens transcriptome.
Title: The aging mouse lens transcriptome.
These results clearly show that the development of early-onset cataracts requires at least two mutant alleles of Foxe3(rct) and Pde6b(rd1), and another modifier associated with the severity of cataract phenotypes in Foxe3(rct) mice underlies the genetic backgrounds in mice.
Title: Pde6b(rd1) mutation modifies cataractogenesis in Foxe3(rct) mice.
The Hedgehog pathway with its member Smoothened is required during a discrete embryonic period (E9.5-E12.5) in lens development to regulate lens epithelial cell proliferation, survival and FoxE3 expression.
Title: A role for smoothened during murine lens and cornea development.
Foxe3 as a transcriptional target of Pitx3 explains at least in part some of the phenotypic similarities of the ak and dyl mice (dysgenic lens, a Foxe3 allele).
Title: Pitx3 directly regulates Foxe3 during early lens development.
The observed changes in the expression of FoxE3 suggest that Msx2 is an important contributor in controlling transcription of target genes critical for early eye development.
Title: Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.
the ectopic activation of downstream effectors of the hedgehog signaling pathway in the mouse lens disrupts normal fiber cell differentiation by a mechanism consistent with a sustained epithelial cellular developmental program driven by FoxE3.
Title: Activation of the hedgehog signaling pathway in the developing lens stimulates ectopic FoxE3 expression and disruption in fiber cell differentiation.
cataracts in rct mice are caused by reduced Foxe3 expression in the lens and this decreased expression is a result of a deletion in a cis-acting regulatory element
Title: A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice.
Data found no evidence that Pitx3 and Foxe3 genetically interact.
Title: Pitx3 controls multiple aspects of lens development.
Proper inactivation of FoxE3 expression at the lens equator is important for many aspects of fiber differentiation, and persistent expression leads to a partial epithelialization of fiber cells, with severe consequences for lens function.
Title: Persistent FoxE3 expression blocks cytoskeletal remodeling and organelle degradation during lens fiber differentiation.
early Foxe3 expression is sensitive to halved Pax6 gene dosage & there is phenotypic similarity between Pax6 & Foxe3 mutants; we propose that many ocular malformations associated with Pax6 haploinsufficiency are consequences of reduced Foxe3 expression
Title: Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Spontaneous (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC316354P1 (e-PCR)
- UniSTS:272959

PMC316354P2 (e-PCR)
- UniSTS:272960

PMC316354P3 (e-PCR)
- UniSTS:272961

NoName (e-PCR)
- UniSTS:493133

NoName (e-PCR)
- UniSTS:490597

NoName (e-PCR)
- UniSTS:495510

Foxe3 (e-PCR), detects polymorphism
- UniSTS:547224

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in ciliary body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISO Inferred from Sequence Orthology more info
involved_in eye development	ISS Inferred from Sequence or Structural Similarity more info
involved_in iris morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens development in camera-type eye	ISO Inferred from Sequence Orthology more info
involved_in lens development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in mRNA transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of lens fiber cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lens epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lens epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lens epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in trabecular meshwork development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: forkhead box protein E3

Names: Rinshoken cataract; dysgenetic lens

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.