Format

Send to:

Choose Destination
    • Showing Current items.

    FOXE3 forkhead box E3 [ Homo sapiens (human) ]

    Gene ID: 2301, updated on 21-Apr-2019

    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
    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; 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

    Genomic context

    See FOXE3 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (47416072..47418052)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47881744..47883724)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene STIL centriolar assembly protein Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene FOXD2 adjacent opposite strand RNA 1 Neighboring gene forkhead box D2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Aortic aneurysm, familial thoracic 11, susceptibility to 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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell development IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary body morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cornea development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iris morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lens development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    mRNA transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of lens fiber cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of lens epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of lens epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    trabecular meshwork development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    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

    1. NG_016192.1 RefSeqGene

      Range
      5001..6981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012186.3NP_036318.1  forkhead box protein E3

      See identical proteins and their annotated locations for NP_036318.1

      Status: REVIEWED

      Source sequence(s)
      AF275722, AL607122
      Consensus CDS
      CCDS550.1
      UniProtKB/Swiss-Prot
      Q13461
      UniProtKB/TrEMBL
      A0A0A1EII5
      Related
      ENSP00000334472.2, ENST00000335071.4
      Conserved Domains (1) summary
      smart00339
      Location:71159
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      47416072..47418052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center