FOXE3 forkhead box E3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXE3provided by HGNC
Official Full Name: forkhead box E3provided by HGNC
Primary source: HGNC:HGNC:3808
See related: Ensembl:ENSG00000186790 MIM:601094; AllianceGenome:HGNC:3808
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Orthologs: mouse all
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Genomic context

Location:: 1p33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (47416285..47418052)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (47294744..47296511)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (47881957..47883724)

Chromosome 1 - NC_000001.11 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?

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Title: Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer cell proliferation by inhibiting neddylation.
Title: FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer cell proliferation by inhibiting neddylation.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Title: Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Title: Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Identification of FOXE3 transcription factor as a potent oncogenic factor in triple-negative breast cancer.
Title: Identification of FOXE3 transcription factor as a potent oncogenic factor in triple-negative breast cancer.
To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with 2 different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity.
Title: FOXE3 mutations: genotype-phenotype correlations.
Comparative analysis of this RNA-seq data with iSyTE data identified several lens-enriched genes to be down-regulated in foxe3 indel mutants. We also noted upregulation of lgsn and crygmxl2 and downregulation of fmodb and cx43.4, genes that are expressed in the zebrafish lens, but that are not yet associated with an eye phenotype in humans.
Title: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.
The sclerocornea-microphthalmia-aphakia complex is a severe malformative ocular phenotype resulting from mutations in the FOXE3 transcription factor. To date, patients from at least 14 families with this uncommon ocular disorder have been described. The identification of 2 novel pathogenic variants in our patients expands the mutational spectrum in FOXE3-related congenital eye disorders.
Title: Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Data show that DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1) is a transcriptional target of forkhead box protein E3 (FOXE3) in a pathway that is crucial for the development of the anterior segment of the eye.
Title: FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
Although congenital aphakia is known to be caused by mutations in the FOXE3 gene, the results of lack of coding mutation in this patient suggests a possible genetic heterogeneity of the disease.
Title: Lack of FOXE3 coding mutation in a case of congenital aphakia.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aortic aneurysm, familial thoracic 11, susceptibility to MedGen: C4479235 OMIM: 617349 GeneReviews: Heritable Thoracic Aortic Disease Overview	Compare labs
Cataract 34 multiple types MedGen: C2751822 OMIM: 612968 GeneReviews: Not available	Compare labs
Congenital primary aphakia MedGen: C1853230 OMIM: 610256 GeneReviews: Not available	Compare 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC316354P2 (e-PCR)
- UniSTS:272960

NoName (e-PCR)
- UniSTS:482658

NoName (e-PCR)
- UniSTS:494838

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment 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	ISS Inferred from Sequence or Structural Similarity more info	PubMed

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

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: forkhead box protein E3

Names: FREAC-8; forkhead, drosophila, homolog-like 12; forkhead-related protein FKHL12; forkhead-related transcription factor 8

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.

Genomic

NG_016192.1 RefSeqGene

Range

5214..6981

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012186.3 → NP_036318.1 forkhead box protein E3

Status: REVIEWED

Source sequence(s)

AF275722, AL607122

Consensus CDS

CCDS550.1

UniProtKB/Swiss-Prot

Q13461, Q5SVY9, Q9NQV9

UniProtKB/TrEMBL

A0A0A1EII5

Related

ENSP00000334472.2, ENST00000335071.4

Conserved Domains (1) summary

smart00339
Location:71 → 159

FH; FORKHEAD