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    FOXE1 forkhead box E1 [ Homo sapiens (human) ]

    Gene ID: 2304, updated on 2-Nov-2024

    Summary

    Official Symbol
    FOXE1provided by HGNC
    Official Full Name
    forkhead box E1provided by HGNC
    Primary source
    HGNC:HGNC:3806
    See related
    Ensembl:ENSG00000178919 MIM:602617; AllianceGenome:HGNC:3806
    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
    TTF2; FOXE2; HFKH4; HFKL5; NMTC4; TITF2; TTF-2; BAMLAZ; FKHL15
    Summary
    This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
    Annotation information
    Note: TTF2 (Gene ID: 8458) and FOXE1 (Gene ID: 2304) share the TTF2 symbol/alias in common. TTF2 is a widely used alternative name for forkhead box E1 (FOXE1), which can be confused with the official symbol for transcription termination factor 2 (TTF2). [31 May 2018]
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FOXE1 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97853226..97856717)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110025163..110028654)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100615508..100618999)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear cap binding protein subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28674 Neighboring gene XPA, DNA damage recognition and repair factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20102 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100465986-100467185 Neighboring gene keratin 18 pseudogene 13 Neighboring gene papillary thyroid carcinoma susceptibility candidate 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28678 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100520047-100521246 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:100534165-100534666 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:100534667-100535166 Neighboring gene VISTA enhancer hs1595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20103 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:100571176-100572375 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100589760-100589981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100613975-100614476 Neighboring gene VISTA enhancer hs1596 Neighboring gene VISTA enhancers hs1597 and hs1717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28679 Neighboring gene tRNA methyltransferase O Neighboring gene hemogen

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bamforth-Lazarus syndrome
    MedGen: C1855794 OMIM: 241850 GeneReviews: Not available
    not available
    Thyroid cancer, nonmedullary, 4
    MedGen: C4225293 OMIM: 616534 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.
    EBI GWAS Catalog
    Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
    EBI GWAS Catalog
    Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    EBI GWAS Catalog
    Genome-wide association study on differentiated thyroid cancer.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.
    EBI GWAS Catalog
    Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in anatomical structure morphogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chordate pharynx development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cranial skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hair follicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hard palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in soft palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thymus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in thyroid gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in thyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid hormone generation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein E1
    Names
    HNF-3/fork head-like protein 5
    forkhead box protein E2
    forkhead, drosophila, homolog-like 15
    forkhead-related protein FKHL15
    thyroid transcription factor 2

    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_011979.1 RefSeqGene

      Range
      4972..8463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004473.4NP_004464.2  forkhead box protein E1

      See identical proteins and their annotated locations for NP_004464.2

      Status: REVIEWED

      Source sequence(s)
      AL499604, U89995
      Consensus CDS
      CCDS35078.1
      UniProtKB/Swiss-Prot
      O00358, O75765, Q5T109, Q99526
      Related
      ENSP00000364265.3, ENST00000375123.5
      Conserved Domains (1) summary
      smart00339
      Location:53141
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      97853226..97856717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      110025163..110028654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)