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FOXE1 forkhead box E1 [ Homo sapiens (human) ]

Gene ID: 2304, updated on 24-May-2020

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
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]
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

Genomic context

See FOXE1 in Genome Data Viewer
Location:
9q22.33
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (97853226..97856717)
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 keratin 18 pseudogene 13 Neighboring gene papillary thyroid carcinoma susceptibility candidate 2 Neighboring gene VISTA enhancer hs1595 Neighboring gene VISTA enhancer hs1596 Neighboring gene VISTA enhancers hs1597 and hs1717

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
Compare labs
Thyroid cancer, nonmedullary, 4
MedGen: C4225293 OMIM: 616534 GeneReviews: Not available
Compare labs

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anatomical structure morphogenesis NAS
Non-traceable Author Statement
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II 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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II 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
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Related
    ENSP00000364265.3, ENST00000375123.5
    Conserved Domains (1) summary
    smart00339
    Location:53141
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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