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Aliases for FOXE1 Gene

Aliases for FOXE1 Gene

  • Forkhead Box E1 2 3 5
  • Thyroid Transcription Factor 2 2 3 4
  • Forkhead-Related Protein FKHL15 3 4
  • HNF-3/Fork Head-Like Protein 5 3 4
  • Forkhead Box Protein E2 3 4
  • Forkhead Box E2 2 3
  • FKHL15 3 4
  • FOXE2 3 4
  • TITF2 3 4
  • HFKH4 3 4
  • HFKL5 3 4
  • TTF-2 3 4
  • TTF2 3 4
  • Forkhead Box E1 (Thyroid Transcription Factor 2) 2
  • Forkhead, Drosophila, Homolog-Like 15 3
  • NMTC4 3

External Ids for FOXE1 Gene

Previous HGNC Symbols for FOXE1 Gene

  • FKHL15
  • TITF2
  • FOXE2

Previous GeneCards Identifiers for FOXE1 Gene

  • GC09P091440
  • GC09P092359
  • GC09P094072
  • GC09P095995
  • GC09P097695
  • GC09P099655
  • GC09P100615
  • GC09P070216

Summaries for FOXE1 Gene

Entrez Gene Summary for FOXE1 Gene

  • This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Mutations in this gene are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I. [provided by RefSeq, Jul 2008]

GeneCards Summary for FOXE1 Gene

FOXE1 (Forkhead Box E1) is a Protein Coding gene. Diseases associated with FOXE1 include Bamforth-Lazarus Syndrome and Thyroid Cancer, Nonmedullary, 4. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is FOXE3.

UniProtKB/Swiss-Prot for FOXE1 Gene

  • Probable transcription factor. Could be involved in thyroid gland organogenesis.

Gene Wiki entry for FOXE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXE1 Gene

Genomics for FOXE1 Gene

Regulatory Elements for FOXE1 Gene

Enhancers for FOXE1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FOXE1 on UCSC Golden Path with GeneCards custom track

Promoters for FOXE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FOXE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FOXE1 Gene

Chromosome:
9
Start:
97,853,254 bp from pter
End:
97,856,715 bp from pter
Size:
3,462 bases
Orientation:
Plus strand

Genomic View for FOXE1 Gene

Genes around FOXE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXE1 Gene

Proteins for FOXE1 Gene

  • Protein details for FOXE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00358-FOXE1_HUMAN
    Recommended name:
    Forkhead box protein E1
    Protein Accession:
    O00358
    Secondary Accessions:
    • O75765
    • Q5T109
    • Q99526

    Protein attributes for FOXE1 Gene

    Size:
    373 amino acids
    Molecular mass:
    38076 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA64246.1; Type=Miscellaneous discrepancy; Note=Several conflicts.; Evidence={ECO:0000305};

neXtProt entry for FOXE1 Gene

Proteomics data for FOXE1 Gene at MOPED

Post-translational modifications for FOXE1 Gene

Other Protein References for FOXE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXE1 Gene

Domains & Families for FOXE1 Gene

Gene Families for FOXE1 Gene

Protein Domains for FOXE1 Gene

Suggested Antigen Peptide Sequences for FOXE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00358

UniProtKB/Swiss-Prot:

FOXE1_HUMAN :
  • Contains 1 fork-head DNA-binding domain.
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXE1: view

Function for FOXE1 Gene

Molecular function for FOXE1 Gene

GENATLAS Biochemistry:
transcription factor-like 15,with a Drosophila homeo forkhead DNA binding domain homolog,expressed in the developing thyroid,in most of the foregut endoderm,including Rathke pouch
UniProtKB/Swiss-Prot Function:
Probable transcription factor. Could be involved in thyroid gland organogenesis.

Gene Ontology (GO) - Molecular Function for FOXE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA,IBA --
genes like me logo Genes that share ontologies with FOXE1: view
genes like me logo Genes that share phenotypes with FOXE1: view

Human Phenotype Ontology for FOXE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXE1 Gene

MGI Knock Outs for FOXE1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FOXE1 Gene

Localization for FOXE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXE1 Gene COMPARTMENTS Subcellular localization image for FOXE1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for FOXE1 Gene

Pathways & Interactions for FOXE1 Gene

SuperPathways for FOXE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter NAS 9169137
GO:0006351 transcription, DNA-templated IEA --
GO:0006590 thyroid hormone generation IEA,ISS --
GO:0009653 anatomical structure morphogenesis NAS 9169137
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with FOXE1: view

No data available for Pathways by source and SIGNOR curated interactions for FOXE1 Gene

Drugs & Compounds for FOXE1 Gene

(1) Drugs for FOXE1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for FOXE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOXE1: view

Transcripts for FOXE1 Gene

mRNA/cDNA for FOXE1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXE1 Gene

Forkhead box E1 (thyroid transcription factor 2):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXE1 Gene

No ASD Table

Relevant External Links for FOXE1 Gene

GeneLoc Exon Structure for
FOXE1
ECgene alternative splicing isoforms for
FOXE1

Expression for FOXE1 Gene

mRNA expression in normal human tissues for FOXE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXE1 Gene

This gene is overexpressed in Thyroid (x43.1).

Protein differential expression in normal tissues from HIPED for FOXE1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FOXE1 Gene



SOURCE GeneReport for Unigene cluster for FOXE1 Gene Hs.159234

mRNA Expression by UniProt/SwissProt for FOXE1 Gene

O00358-FOXE1_HUMAN
Tissue specificity: Detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine testis and thymus. Expression was strongest in heart and pancreas.
genes like me logo Genes that share expression patterns with FOXE1: view

Protein tissue co-expression partners for FOXE1 Gene

Primer Products

Orthologs for FOXE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FOXE1 35
  • 87.42 (n)
  • 91.91 (a)
FOXE1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxe1 35
  • 86.65 (n)
  • 90.19 (a)
Foxe1 16
Foxe1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxe1 35
  • 85.2 (n)
  • 88.83 (a)
oppossum
(Monodelphis domestica)
Mammalia FOXE1 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXE1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXE1 35
  • 70.14 (n)
  • 63.89 (a)
FOXE1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxe1 35
  • 59.05 (n)
  • 59.52 (a)
zebrafish
(Danio rerio)
Actinopterygii foxe1 35
  • 61.97 (n)
  • 60.56 (a)
foxe1 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fd64A 37
  • 63 (a)
fd96Cb 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 37
  • 49 (a)
pha-4 36
  • 16 (a)
ManyToMany
Species with no ortholog for FOXE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FOXE1 Gene

ENSEMBL:
Gene Tree for FOXE1 (if available)
TreeFam:
Gene Tree for FOXE1 (if available)

Paralogs for FOXE1 Gene

(14) SIMAP similar genes for FOXE1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FOXE1: view

Variants for FOXE1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for FOXE1 Gene

FOXE1_HUMAN-O00358
An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases.

Sequence variations from dbSNP and Humsavar for FOXE1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_008857 Bamforth-Lazarus syndrome (BLS)
VAR_016882 Bamforth-Lazarus syndrome (BLS)
VAR_027508 -
rs1443434 -- 97,855,197(+) CACCC(G/T)GTGTA utr-variant-3-prime
rs1443435 -- 97,855,301(+) TCTGG(C/T)ATTCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FOXE1 Gene

Variant ID Type Subtype PubMed ID
nsv893611 CNV Gain 21882294
nsv6627 CNV Loss 18451855
nsv825000 CNV Gain 20364138

Variation tolerance for FOXE1 Gene

Gene Damage Index Score: 1.93; 35.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXE1 Gene

Human Gene Mutation Database (HGMD)
FOXE1

Disorders for FOXE1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for FOXE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bamforth-lazarus syndrome
  • hypothyroidism, athyroidal, with spiky hair and cleft palate
thyroid cancer, nonmedullary, 4
  • thyroid cancer, non-medullary, 4
familial papillary or follicular thyroid carcinoma
  • fnmtc
choanal atresia
  • pca
congenital hypothyroidism
  • cretinism
- elite association - COSMIC cancer census association via MalaCards
Search FOXE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXE1_HUMAN
  • Bamforth-Lazarus syndrome (BLS) [MIM:241850]: A disease characterized by thyroid agenesis, cleft palate and choanal atresia. {ECO:0000269 PubMed:12165566, ECO:0000269 PubMed:9697705}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOXE1

Genetic Association Database (GAD)
FOXE1
Human Genome Epidemiology (HuGE) Navigator
FOXE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXE1
genes like me logo Genes that share disorders with FOXE1: view

No data available for Genatlas for FOXE1 Gene

Publications for FOXE1 Gene

  1. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. (PMID: 9697705) Clifton-Bligh R.J. … Chatterjee V.K. (Nat. Genet. 1998) 2 3 4 23 67
  2. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. (PMID: 20157192) Narumi S. … Hasegawa T. (J. Clin. Endocrinol. Metab. 2010) 3 23
  3. Spectrum of Human Foxe1/TTF2 Mutations. (PMID: 20453517) Castanet M. … Polak M. (Horm Res Paediatr 2010) 3 23
  4. TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. (PMID: 17318017) Santarpia L. … Benvenga S. (J. Endocrinol. Invest. 2007) 3 23
  5. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (PMID: 16882747) Baris I. … Battaloglu E. (J. Clin. Endocrinol. Metab. 2006) 3 23

Products for FOXE1 Gene

Sources for FOXE1 Gene

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