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. [prov... See more...

Aliases for FOXE3 Gene

Aliases for FOXE3 Gene

  • Forkhead Box E3 2 3 5
  • Forkhead-Related Transcription Factor 8 3 4
  • Forkhead-Related Protein FKHL12 3 4
  • Forkhead Box Protein E3 3 4
  • FREAC-8 3 4
  • FKHL12 3 4
  • FREAC8 3 4
  • Forkhead, Drosophila, Homolog-Like 12 3
  • CTRCT34 3
  • AAT11 3
  • ASGD2 3

External Ids for FOXE3 Gene

Previous HGNC Symbols for FOXE3 Gene

  • FKHL12

Previous GeneCards Identifiers for FOXE3 Gene

  • GC01P047507
  • GC01P046770
  • GC01P047240
  • GC01P047251
  • GC01P047593
  • GC01P047654
  • GC01P047881
  • GC01P045998

Summaries for FOXE3 Gene

Entrez Gene Summary for FOXE3 Gene

  • 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]

GeneCards Summary for FOXE3 Gene

FOXE3 (Forkhead Box E3) is a Protein Coding gene. Diseases associated with FOXE3 include Anterior Segment Dysgenesis 2 and Cataract 34, Multiple Types. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is FOXE1.

UniProtKB/Swiss-Prot Summary for FOXE3 Gene

  • Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149).

Gene Wiki entry for FOXE3 Gene

Additional gene information for FOXE3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXE3 Gene

Genomics for FOXE3 Gene

GeneHancer (GH) Regulatory Elements for FOXE3 Gene

Promoters and enhancers for FOXE3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXE3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXE3

Top Transcription factor binding sites by QIAGEN in the FOXE3 gene promoter:
  • c-Ets-1
  • CP2
  • CREB
  • deltaCREB
  • FOXO4
  • GR
  • HOXA3
  • Ik-1
  • Nkx2-5
  • RP58

Genomic Locations for FOXE3 Gene

Genomic Locations for FOXE3 Gene
chr1:47,416,072-47,418,052
(GRCh38/hg38)
Size:
1,981 bases
Orientation:
Plus strand
chr1:47,881,744-47,883,724
(GRCh37/hg19)
Size:
1,981 bases
Orientation:
Plus strand

Genomic View for FOXE3 Gene

Genes around FOXE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXE3 Gene

Proteins for FOXE3 Gene

  • Protein details for FOXE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13461-FOXE3_HUMAN
    Recommended name:
    Forkhead box protein E3
    Protein Accession:
    Q13461
    Secondary Accessions:
    • Q5SVY9
    • Q9NQV9

    Protein attributes for FOXE3 Gene

    Size:
    319 amino acids
    Molecular mass:
    33234 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXE3 Gene

Post-translational modifications for FOXE3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXE3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXE3 Gene

Domains & Families for FOXE3 Gene

Gene Families for FOXE3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXE3 Gene

Suggested Antigen Peptide Sequences for FOXE3 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead-related transcription factor 8 (FOXE3_HUMAN)
genes like me logo Genes that share domains with FOXE3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXE3 Gene

Function for FOXE3 Gene

Molecular function for FOXE3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149).
GENATLAS Biochemistry:
transcription factor-like 12,with a Drosophila homeo forkhead DNA binding domain homolog

Phenotypes From GWAS Catalog for FOXE3 Gene

Gene Ontology (GO) - Molecular Function for FOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IDA,IEA 25504734
GO:0003700 DNA-binding transcription factor activity TAS 8825632
GO:0043565 sequence-specific DNA binding ISS 11980846
genes like me logo Genes that share ontologies with FOXE3: view
genes like me logo Genes that share phenotypes with FOXE3: view

Human Phenotype Ontology for FOXE3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXE3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FOXE3 Gene

Localization for FOXE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXE3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXE3 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 25504734
GO:0005667 transcription factor complex IDA 10652278
genes like me logo Genes that share ontologies with FOXE3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXE3 Gene

Pathways & Interactions for FOXE3 Gene

PathCards logo

SuperPathways for FOXE3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 27218149
GO:0002088 lens development in camera-type eye ISS 17064680
GO:0002930 trabecular meshwork development ISS 17064680
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with FOXE3: view

No data available for Pathways by source and SIGNOR curated interactions for FOXE3 Gene

Drugs & Compounds for FOXE3 Gene

No Compound Related Data Available

Transcripts for FOXE3 Gene

mRNA/cDNA for FOXE3 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXE3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXE3 Gene

No ASD Table

Relevant External Links for FOXE3 Gene

GeneLoc Exon Structure for
FOXE3

Expression for FOXE3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXE3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXE3 Gene

This gene is overexpressed in Testis (x8.7), Brain - Putamen (basal ganglia) (x6.5), Nerve - Tibial (x5.1), and Brain - Cerebellar Hemisphere (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXE3

SOURCE GeneReport for Unigene cluster for FOXE3 Gene:

Hs.112968

Evidence on tissue expression from TISSUES for FOXE3 Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXE3 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with FOXE3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FOXE3 Gene

Orthologs for FOXE3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXE3 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Foxe3 31
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXE3 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXE3 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXE3 31
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXE3 31
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii foxe3 31
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fd59A 32
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 32
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToOne
Species where no ortholog for FOXE3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FOXE3 Gene

ENSEMBL:
Gene Tree for FOXE3 (if available)
TreeFam:
Gene Tree for FOXE3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXE3: view image

Paralogs for FOXE3 Gene

(12) SIMAP similar genes for FOXE3 Gene using alignment to 1 proteins:

  • FOXE3_HUMAN
genes like me logo Genes that share paralogs with FOXE3: view

Variants for FOXE3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXE3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
639324 Uncertain Significance: Congenital primary aphakia; Anterior segment mesenchymal dysgenesis 47,417,150(+) G/GGCCCGCT NONSENSE
643964 Uncertain Significance: Congenital primary aphakia; Anterior segment mesenchymal dysgenesis 47,417,208(+) C/T MISSENSE_VARIANT
643978 Uncertain Significance: Congenital primary aphakia; Anterior segment mesenchymal dysgenesis 47,416,842(+) C/T MISSENSE_VARIANT
646437 Uncertain Significance: Congenital primary aphakia; Anterior segment mesenchymal dysgenesis 47,417,027(+) C/T MISSENSE_VARIANT
650898 Uncertain Significance: Congenital primary aphakia; Anterior segment mesenchymal dysgenesis 47,416,719(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FOXE3 Gene

Structural Variations from Database of Genomic Variants (DGV) for FOXE3 Gene

Variant ID Type Subtype PubMed ID
dgv259n54 CNV loss 21841781
dgv260n54 CNV loss 21841781
dgv261n54 CNV loss 21841781
dgv262n54 CNV gain 21841781
dgv263n54 CNV gain+loss 21841781
dgv264n54 CNV loss 21841781
nsv546168 CNV loss 21841781
nsv546169 CNV gain 21841781
nsv546188 CNV loss 21841781
nsv546189 CNV gain+loss 21841781

Variation tolerance for FOXE3 Gene

Gene Damage Index Score: 2.10; 38.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXE3 Gene

Human Gene Mutation Database (HGMD)
FOXE3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXE3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXE3 Gene

Disorders for FOXE3 Gene

MalaCards: The human disease database

(32) MalaCards diseases for FOXE3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
anterior segment dysgenesis 2
  • asgd2
cataract 34, multiple types
  • ctrct34
aortic aneurysm, familial thoracic 11
  • aortic aneurysm, familial thoracic 11, susceptibility to
anterior segment dysgenesis
  • anterior segment mesenchymal dysgenesis
peters-plus syndrome
  • ptrpls
- elite association - COSMIC cancer census association via MalaCards
Search FOXE3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXE3_HUMAN
  • Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive. {ECO:0000269 PubMed:11159941, ECO:0000269 PubMed:11980846, ECO:0000269 PubMed:16826526, ECO:0000269 PubMed:19708017, ECO:0000269 PubMed:25504734}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cataract 34, multiple types (CTRCT34) [MIM:612968]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269 PubMed:27218149}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:26854927}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for FOXE3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FOXE3: view

No data available for Genatlas for FOXE3 Gene

Publications for FOXE3 Gene

  1. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PMID: 8825632) Larsson C … Carlsson P (Genomics 1995) 2 3 4 54
  2. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. (PMID: 27218149) Khan SY … Riazuddin SA (Nature communications 2016) 3 4 54
  3. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. (PMID: 26854927) Kuang SQ … Milewicz DM (The Journal of clinical investigation 2016) 3 4 54
  4. Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. (PMID: 25504734) Islam L … Sowden JC (Human mutation 2015) 3 4 54
  5. Growth inhibition of human lens epithelial cells by short hairpin RNA in transcription factor forkhead box E3 (FOXE3). (PMID: 22527307) Wang Y … Huang Y (Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2012) 3 4 54

Products for FOXE3 Gene

Sources for FOXE3 Gene