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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
  • 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
  • Forkhead Box Protein E1 3
  • Forkhead Box E2 2
  • 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 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]

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

  • Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F097786 0.5 FANTOM5 37.8 -66.7 -66749 0.5 RFX1 CEBPB RAD21 FOXE1 ENSG00000260677 PTCSC2
GH09F097873 1.4 VISTA Ensembl ENCODE 32.8 +22.8 22828 4.3 PKNOX1 SIN3A ZNF143 FOS DEK ZNF263 SP5 REST SMARCB1 ATF4 FOXE1 TRMO ZNF322P1 ZNF782 NCBP1 XPA LOC105376171 CCDC180 GC09P097870 GC09P097916
GH09F097890 1.1 Ensembl 32.2 +37.1 37147 0.4 CTCF RFX1 ZNF654 REST BMI1 ZBTB40 RAD21 GATA3 SMC3 ZNF24 FOXE1 GC09P097870 GC09P097916
GH09F097904 1.4 FANTOM5 Ensembl ENCODE 30.5 +53.8 53808 4.9 CTCF RAD51 PBX2 IKZF1 ZBTB33 SPI1 NR2F2 TRMO FOXE1 KRT18P13 XPA TBC1D2 GC09P097916 GC09P097870
GH09F097858 0.4 ENCODE 26.6 +4.9 4920 0.2 RNF2 SUZ12 CBX2 EZH2 FOXE1 GC09P097870
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001309541 746 801 CTCF SUZ12 POLR2A SCRT2 SMC3 ZNF600 E2F6 EZH2 ZNF202 PHF8

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

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:
Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.

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 IMP,IBA 12165566
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 9697705
GO:0043565 sequence-specific DNA binding IEA,IMP 12165566
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FOXE1

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for FOXE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 9697705
genes like me logo Genes that share ontologies with FOXE1: view

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IMP 12165566
GO:0006590 thyroid hormone generation ISS --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FOXE1

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for FOXE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOXE1 Gene:

FOXE1

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

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
chimpanzee
(Pan troglodytes)
Mammalia FOXE1 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXE1 34 35
  • 87.42 (n)
mouse
(Mus musculus)
Mammalia Foxe1 34 16 35
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Foxe1 34
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXE1 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXE1 34 35
  • 70.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia foxe1 34
  • 59.05 (n)
zebrafish
(Danio rerio)
Actinopterygii foxe1 34 35
  • 61.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta fd64A 36
  • 63 (a)
fd96Cb 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 36
  • 49 (a)
pha-4 35
  • 16 (a)
ManyToMany
Species where no ortholog for FOXE1 was found in the sources mined by GeneCards:
  • 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
rs104894110 Pathogenic, Bamforth-Lazarus syndrome (BLS) [MIM:241850] 97,854,108(+) CATGG(C/T)CATCG reference, missense
rs28937575 Pathogenic, Bamforth-Lazarus syndrome (BLS) [MIM:241850] 97,854,084(+) CTACA(A/G)CTACA reference, missense
rs538912281 Pathogenic, Thyroid cancer, non-medullary, 4 (NMTC4) [MIM:616534] 97,854,657(+) TTGCG(C/G)CTTTG reference, missense
VAR_075978 Bamforth-Lazarus syndrome (BLS) [MIM:241850]
rs104894111 Pathogenic 97,854,218(+) GCATC(C/T)GCCAC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv6627 CNV deletion 18451855
nsv825000 CNV gain 20364138
nsv950914 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXE1

Disorders for FOXE1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bamforth-lazarus syndrome
  • hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate
thyroid cancer, nonmedullary, 4
  • thyroid cancer, non-medullary, 4
bamforth syndrome
  • bamforth-lazarus syndrome
familial papillary or follicular thyroid carcinoma
  • fnmtc
choanal atresia, posterior
  • choanal atresia
- 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:24219130, ECO:0000269 PubMed:9697705}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thyroid cancer, non-medullary, 4 (NMTC4) [MIM:616534]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269 PubMed:25381600}. Note=Disease susceptibility is associated with variations 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 22 64
  2. Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (PMID: 20094846) Kang I.N. … Junit S.M. (Biochem. Genet. 2010) 3 4 46 64
  3. 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 22 46 64
  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 22 46 64
  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 4 22 64

Products for FOXE1 Gene

Sources for FOXE1 Gene

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