FOXE1 forkhead box E1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (97853226..97856717)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (110025163..110028654)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (100615508..100618999)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer.
Title: Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer.
FOXE1 Contributes to the Development of Psoriasis by Regulating WNT5A.
Title: FOXE1 Contributes to the Development of Psoriasis by Regulating WNT5A.
The high expression of FOXE1 in colorectal cancer predicts a promising prognosis: a retrospective study.
Title: The high expression of FOXE1 in colorectal cancer predicts a promising prognosis: a retrospective study.
Adipocyte signaling affects thyroid-specific gene expression via down-regulation of TTF-2/FOXE1.
Title: Adipocyte signaling affects thyroid-specific gene expression via down-regulation of TTF-2/FOXE1.
The Effect of LL37 Antimicrobial Peptide on FOXE1 and lncRNA PTCSC 2 Genes Expression in Colorectal Cancer (CRC) and Normal Cells.
Title: The Effect of LL37 Antimicrobial Peptide on FOXE1 and lncRNA PTCSC 2 Genes Expression in Colorectal Cancer (CRC) and Normal Cells.
Genetic predisposition of SNPs in miRNA-149 (rs2292832) and FOXE1 (rs3758249) in thyroid Cancer.
Title: Genetic predisposition of SNPs in miRNA-149 (rs2292832) and FOXE1 (rs3758249) in thyroid Cancer.
YY1-induced up-regulation of FOXE1 is negatively regulated by miR-129-5p and contributes to the progression of papillary thyroid microcarcinoma.
Title: YY1-induced up-regulation of FOXE1 is negatively regulated by miR-129-5p and contributes to the progression of papillary thyroid microcarcinoma.
FOXE1 regulates migration and invasion in thyroid cancer cells and targets ZEB1.
Title: FOXE1 regulates migration and invasion in thyroid cancer cells and targets ZEB1.
FOXE1 represses cell proliferation and Warburg effect by inhibiting HK2 in colorectal cancer.
Title: FOXE1 represses cell proliferation and Warburg effect by inhibiting HK2 in colorectal cancer.
Network-Based Analysis Reveals Association of FOXE1 Gene Polymorphisms in Thyroid Cancer Patients; A Case-Control Study in Southeast of Iran.
Title: Network-Based Analysis Reveals Association of FOXE1 Gene Polymorphisms in Thyroid Cancer Patients; A Case-Control Study in Southeast of Iran.

Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FOXE1_316 (e-PCR)
- UniSTS:277250

NoName (e-PCR)
- UniSTS:481083

NoName (e-PCR)
- UniSTS:494815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.