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Aliases for FOXE3 Gene

Aliases for FOXE3 Gene

  • Forkhead Box E3 2 3
  • FKHL12 3 4 6
  • Forkhead-Related Transcription Factor 8 3 4
  • Forkhead-Related Protein FKHL12 3 4
  • FREAC-8 3 4
  • FREAC8 3 4
  • Forkhead, Drosophila, Homolog-Like 12 3
  • Forkhead Box Protein E3 3
  • ASMD 6

External Ids for FOXE3 Gene

Previous Symbols for FOXE3 Gene

  • FKHL12

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 congenital aphakia and sclerocornea. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXC1.

UniProtKB/Swiss-Prot for FOXE3 Gene

  • Transcription factor activator.

Gene Wiki entry for FOXE3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXE3 Gene

Genomics for FOXE3 Gene

Genomic Location for FOXE3 Gene

Start:
47,416,072 bp from pter
End:
47,418,052 bp from pter
Size:
1,981 bases
Orientation:
Plus strand

Genomic View for FOXE3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXE3 Gene

Regulatory Elements 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

Proteomics data for FOXE3 Gene at MOPED

Post-translational modifications for FOXE3 Gene

No Post-translational modifications

Other Protein References for FOXE3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXE3 Gene

Domains for FOXE3 Gene

Gene Families for FOXE3 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXE3 Gene

UniProtKB/Swiss-Prot:

FOXE3_HUMAN
Domain:
  • Contains 1 fork-head DNA-binding domain.:
    • Q13461
genes like me logo Genes that share domains with FOXE3: view

Function for FOXE3 Gene

Molecular function for FOXE3 Gene

GENATLAS Biochemistry: transcription factor-like 12,with a Drosophila homeo forkhead DNA binding domain homolog
UniProtKB/Swiss-Prot Function: Transcription factor activator.

Gene Ontology (GO) - Molecular Function for FOXE3 Gene

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

Animal Models for FOXE3 Gene

MGI Knock Outs for FOXE3:

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

Localization for FOXE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXE3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXE3 Gene COMPARTMENTS Subcellular localization image for FOXE3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FOXE3 Gene

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

Pathways for FOXE3 Gene

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 --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter IDA 10652278
GO:0009653 anatomical structure morphogenesis IBA --
genes like me logo Genes that share ontologies with FOXE3: view

No data available for Pathways by source for FOXE3 Gene

Transcripts for FOXE3 Gene

mRNA/cDNA for FOXE3 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXE3 Gene

Forkhead box E3:
Representative Sequences:

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

No ASD Table

Relevant External Links for FOXE3 Gene

GeneLoc Exon Structure for
FOXE3
ECgene alternative splicing isoforms for
FOXE3

Expression for FOXE3 Gene

mRNA expression in normal human tissues 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 (8.7), Brain - Putamen (basal ganglia) (6.5), Nerve - Tibial (5.1), and Brain - Cerebellar Hemisphere (4.3).

SOURCE GeneReport for Unigene cluster for FOXE3 Gene Hs.112968

genes like me logo Genes that share expressions with FOXE3: view

Orthologs for FOXE3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXE3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia FOXE3 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxe3 16
Foxe3 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXE3 37
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXE3 37
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXE3 37
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii foxe3 37
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fd59A 38
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 38
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 17 (a)
OneToOne
Species with no ortholog for FOXE3:
  • 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)

Paralogs for FOXE3 Gene

Selected SIMAP similar genes for FOXE3 Gene using alignment to 1 proteins:

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

Variants for FOXE3 Gene

Sequence variations from dbSNP and Humsavar for FOXE3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2291197 -- 47,418,097(+) GAGAC(A/G)GGTGA downstream-variant-500B
rs2291198 -- 47,418,311(+) GAGAC(A/G)AGATG downstream-variant-500B
rs2820969 -- 47,417,352(+) TCTCT(A/G)CCCCC utr-variant-3-prime
rs6666370 -- 47,417,347(+) CCCCA(C/T)CTCTA utr-variant-3-prime
rs6673789 -- 47,414,090(+) AGTTG(C/T)CTGTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv871961 CNV Loss 21882294

Relevant External Links for FOXE3 Gene

HapMap Linkage Disequilibrium report
FOXE3
Human Gene Mutation Database (HGMD)
FOXE3

Disorders for FOXE3 Gene

(2) OMIM Diseases for FOXE3 Gene (601094)

UniProtKB/Swiss-Prot

FOXE3_HUMAN
  • Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269 PubMed:11159941, ECO:0000269 PubMed:11980846}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital primary aphakia (CPA) [MIM:610256]: Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, 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. {ECO:0000269 PubMed:16826526, ECO:0000269 PubMed:25504734}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for FOXE3 Gene

Relevant External Links for FOXE3

Genetic Association Database (GAD)
FOXE3
Human Genome Epidemiology (HuGE) Navigator
FOXE3
genes like me logo Genes that share disorders with FOXE3: view

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
  2. Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease. (PMID: 25504734) Islam L. … Sowden J.C. (Hum. Mutat. 2015) 3 4
  3. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. (PMID: 11159941) Semina E.V. … Jamrich M. (Hum. Mol. Genet. 2001) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. (PMID: 16826526) Valleix S. … Kantelip B. (Am. J. Hum. Genet. 2006) 3 4

Products for FOXE3 Gene

Sources for FOXE3 Gene

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