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FOXE1 forkhead box E1 [ Homo sapiens (human) ]

Gene ID: 2304, updated on 8-Oct-2017
Official Symbol
FOXE1provided by HGNC
Official Full Name
forkhead box E1provided by HGNC
Primary source
HGNC:HGNC:3806
See related
Ensembl:ENSG00000178919 MIM:602617; Vega:OTTHUMG00000020333
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; 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]
Orthologs
Location:
9q22.33
Exon count:
1
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (97853255..97856715)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100615537..100618997)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear cap binding protein subunit 1 Neighboring gene XPA, DNA damage recognition and repair factor Neighboring gene keratin 18 pseudogene 13 Neighboring gene tRNA methyltransferase O Neighboring gene hemogen

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

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

Markers

Homology

Gene Ontology Provided by GOA

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

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
    5001..8461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004473.3NP_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
    Related
    ENSP00000364265.3, OTTHUMP00000021756, ENST00000375123.4, OTTHUMT00000053341
    Conserved Domains (1) summary
    smart00339
    Location:53141
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

    Range
    97853255..97856715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    100762045..100765505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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