U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    FOXE3 forkhead box E3 [ Homo sapiens (human) ]

    Gene ID: 2301, updated on 2-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FOXE3 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene STIL centriolar assembly protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47772177-47772742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47779829-47780558 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47799401-47800204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47800205-47801008 Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene Sharpr-MPRA regulatory region 7712 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47899798-47900313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47905134-47905903 Neighboring gene FOXD2 adjacent opposite strand RNA 1 Neighboring gene forkhead box D2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis  
    involved_in cell development  
    involved_in cell differentiation  
    involved_in ciliary body morphogenesis PubMed 
    involved_in cornea development in camera-type eye PubMed 
    involved_in epithelial cell proliferation  
    involved_in eye development PubMed 
    involved_in iris morphogenesis PubMed 
    involved_in lens development in camera-type eye PubMed 
    involved_in lens development in camera-type eye PubMed 
    involved_in mRNA transcription by RNA polymerase II PubMed 
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of lens fiber cell differentiation PubMed 
    involved_in positive regulation of lens epithelial cell proliferation PubMed 
    involved_in positive regulation of lens epithelial cell proliferation PubMed 
    involved_in regulation of cell cycle PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in trabecular meshwork development PubMed 
    acts_upstream_of_or_within transcription by RNA polymerase II PubMed 
    Component Evidence Code Pubs
    located_in chromatin  
    located_in nucleus PubMed 
    part_of transcription regulator complex 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)

    NEW Try the new Transcript table

    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
      5214..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, Q5SVY9, Q9NQV9
      UniProtKB/TrEMBL
      A0A0A1EII5
      Related
      ENSP00000334472.2, ENST00000335071.4
      Conserved Domains (1) summary
      smart00339
      Location:71159
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      47416285..47418052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47294744..47296511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    External link. Please review our privacy policy.