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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXE3 Gene

protein-coding   GIFtS: 50
GCID: GC01P047881

Forkhead Box E3


(Previous symbol: FKHL12)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Forkhead Box E31 2     FREAC82 3
FKHL121 2 3 5     Forkhead Box Protein E32
Forkhead-Related Protein FKHL122 3     Forkhead, Drosophila, Homolog-Like 122
Forkhead-Related Transcription Factor 82 3     ASMD5
FREAC-82 3     

External Ids:    HGNC: 38081   Entrez Gene: 23012   Ensembl: ENSG000001867907   OMIM: 6010945   UniProtKB: Q134613   

Export aliases for FOXE3 gene to outside databases

Previous GC identifers: GC01P047507 GC01P046770 GC01P047240 GC01P047251 GC01P047593 GC01P047654 GC01P045998


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 foxe3-related cataracts, autosomal dominant. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXF1.

Gene Wiki entry for FOXE3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXE3 gene promoter:
         GR   RP58   HOXA3   Nkx2-5   c-Ets-1   CREB   CP2   FOXO4   deltaCREB   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXE3 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXE3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXE3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p32

FOXE3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXE3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P047881:  view genomic region     (about GC identifiers)

Start:
47,881,744 bp from pter      End:
47,883,724 bp from pter
Size:
1,981 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461 (See protein sequence)
Recommended Name: Forkhead box protein E3  
Size: 319 amino acids; 33234 Da
Subcellular location: Nucleus
Developmental stage: Expressed in the lens during embryonic development. Predominantly expressed in the anterior
lens epithelium but with some expression posteriorly. Not expressed in brain in embryos
Secondary accessions: Q5SVY9 Q9NQV9

Explore the universe of human proteins at neXtProt for FOXE3: NX_Q13461

Explore proteomics data for FOXE3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13461

  • FOXE3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXE3 Protein Expression
    REFSEQ proteins: NP_036318.1  
    ENSEMBL proteins: 
     ENSP00000334472  

    Human Recombinant Protein Products for FOXE3: 
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    Cloud-Clone Corp. Proteins for FOXE3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005667transcription factor complex IDA10652278

    FOXE3 for ontologies           About GeneDecksing



    FOXE3 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for FOXE3 
    Cloud-Clone Corp. CLIAs for FOXE3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FOX: Forkhead boxes

    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q13461

    ProtoNet protein and cluster: Q13461

    UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXE3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for FOXE3:
    transcription factor-like 12,with a Drosophila homeo forkhead DNA binding domain homolog

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8825632
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0008134transcription factor binding IBA--
    GO:0008301DNA binding, bending IBA--
         
    FOXE3 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Foxe3):
     behavior/neurological  cardiovascular system  nervous system  vision/eye 

    FOXE3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FOXE3: Foxe3tm1Mjam Foxe3tm1Pca

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FOXE3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FOXE3

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    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FOXE3

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0001654eye development ----
    GO:0002089lens morphogenesis in camera-type eye IBA--
    GO:0006355regulation of transcription, DNA-dependent NAS--
    GO:0006366transcription from RNA polymerase II promoter IDA10652278

    FOXE3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXE3

    Search CenterWatch for drugs/clinical trials and news about FOXE3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FOXE3 gene: 
    NM_012186.2  

    Unigene Cluster for FOXE3:

    Forkhead box E3
    Hs.112968  [show with all ESTs]
    Unigene Representative Sequence: AF275722
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000335071(uc001crk.3)
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FOXE3:
    hsa-miR-486-3p
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXE3

    Additional mRNA sequence: AF275722.1 

    2 DOTS entries:

    DT.103174  DT.99997576 

    9 AceView cDNA sequences:

    BM670228 CD675500 AA641009 NM_012186 AF275722 BM712165 CD674161 AA621310 
    BX090569 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXE3 expression in normal human tissues (normalized intensities)      FOXE3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTACTTGC
    FOXE3 Expression
    About this image


    FOXE3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Eye (Sensory Organs)
             Retina

    See FOXE3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXE3

    SOURCE GeneReport for Unigene cluster: Hs.112968
        SABiosciences Custom PCR Arrays for FOXE3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FOXE3 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxe31 , 5 forkhead box E31, 5 84.49(n)1
    84.03(a)1
      4 (52.73 cM)5
    309231  NM_015758.21  NP_056573.11 
     1149251475 
    chicken
    (Gallus gallus)
    Aves FOXE36
    --
    --
    46(a)
    36(a)
    1 ↔ 1
    possible ortholog
    Z(70502663-70503535)
    8(20873411-20875481)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    possible ortholog
    GL343249.1(1609961-1610970)
    zebrafish
    (Danio rerio)
    Actinopterygii foxe16
    foxe36
    forkhead box E3
    30(a)
    29(a)
    1 ↔ many
    possible ortholog
    1(25667679-25669061)
    8(20206672-20208317)


    ENSEMBL Gene Tree for FOXE3 (if available)
    TreeFam Gene Tree for FOXE3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXE3 gene
    FOXF12  FOXA22  FOXF22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXC12  
    FOXD4L22  FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXL12  
    FOXA12  FOXE12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  
    FOXD42  
    12 SIMAP similar genes for FOXE3 using alignment to 1 protein entry:     FOXE3_HUMAN:
    FOXC1    FOXD4L5    FOXD4L3    FOXE1    FOXD2    FOXD4
    FOXD4L1    FOXD4L2    FOXD4L4    FOXD4L6    FOXA1    FOXA2

    FOXE3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/87 SNPs in FOXE3 are shown (see all 87)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0625844
    Anterior segment mesenchymal dysgenesis (ASMD)4--see VAR_0625842 R L mis40--------
    rs803581941,2
    Cpathogenic147882707(+) TGCTGA/CGCCGC 2 * C stg10--------
    rs340823591,2
    C,Funtested147882497(+) CGCGCC/TGAGCT 2 A syn14Minor allele frequency- T:0.39NA EU 497
    VAR_0262354
    ----see VAR_0262352 S G mis40--------
    VAR_0262344
    ----see VAR_0262342 G A mis40--------
    VAR_0625834
    ----see VAR_0625832 M V mis40--------
    VAR_0625824
    ----see VAR_0625822 G A mis40--------
    rs1167697261,2
    F--47879747(+) TCTATC/TATAAC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs66737891,2
    C,F,A--47879762(+) AGTTGT/CCTGTC 1 -- us2k1 tfbs36Minor allele frequency- C:0.24WA CSA NA EA 363
    rs66738821,2
    C,F,H--47879793(+) TTCATC/TTCTGT 1 -- us2k117Minor allele frequency- T:0.37NS EA NA WA CSA 794

    HapMap Linkage Disequilibrium report for FOXE3 (47881744 - 47883724 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FOXE3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv871961CNV Loss21882294


    Human Gene Mutation Database (HGMD): FOXE3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FOXE3
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXE3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601094   
    OMIM disorders: 107250  610256  
    UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for FOXE3:    About MalaCards
    congenital aphakia    foxe3-related cataracts, autosomal dominant    foxe3-related anterior segment mesenchymal dysgenesis    anterior segment mesenchymal dysgenesis
    cataracts, autosomal dominant    aniridia    peters anomaly    anophthalmia/microphthalmia
    coloboma    microphthalmia    cataract    glaucoma
    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for FOXE3:
    Congenital aphakia     Microphthalmia     Aniridia

    FOXE3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FOXE3
    Human Genome Epidemiology (HuGE) Navigator: FOXE3 (1 document)

    Export disorders for FOXE3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FOXE3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with FOXE3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PubMed id 8825632)1, 2, 3 Larsson C....Carlsson P. (1995)
    2. FOXE3 plays a significant role in autosomal recessive microphthalmia. (PubMed id 20140963)1, 4 Reis L.M....Semina E.V. (2010)
    3. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. (PubMed id 19708017)1, 2 Iseri S.U....Ragge N.K. (2009)
    4. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. (PubMed id 16826526)1, 2 Valleix S.... Kantelip B. (2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. (PubMed id 11159941)1, 2 Semina E.V.... Jamrich M. (2001)
    7. Growth inhibition of human lens epithelial cells by sh ort hairpin RNA in transcription factor forkhead box E3 (FOXE3). (PubMed id 22527307)1 Wang Y....Huang Y. (2012)
    8. A novel, non-stop mutation in FOXE3 causes an autosom al dominant form of variable anterior segment dysgenesis including Peters anoma ly. (PubMed id 21150893)1 Doucette L....Young T.L. (2011)
    9. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. (PubMed id 22204637)1 Jimenez N.L....Slavotinek A.M. (2011)
    10. Homozygous FOXE3 mutations cause non-syndromic, bilat eral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. (PubMed id 20664696)1 Ali M....Zenteno J.C. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2301 HGNC: 3808 AceView: FOXE3 Ensembl:ENSG00000186790 euGenes: HUgn2301
    ECgene: FOXE3 H-InvDB: FOXE3

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    PharmGKB entry for FOXE3 Pharmacogenomics, SNPs, Pathways
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