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Aliases for FOXE1 Gene

Aliases for FOXE1 Gene

  • Forkhead Box E1 2 3
  • Thyroid Transcription Factor 2 2 3 4
  • FKHL15 3 4 6
  • TITF2 3 4 6
  • TTF2 3 4 6
  • 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
  • FOXE2 3 4
  • HFKH4 3 4
  • HFKL5 3 4
  • TTF-2 3 4
  • Forkhead Box E1 (Thyroid Transcription Factor 2) 2
  • Forkhead, Drosophila, Homolog-Like 15 3
  • Forkhead Box Protein E1 3

External Ids for FOXE1 Gene

Previous Symbols for FOXE1 Gene

  • FKHL15
  • TITF2
  • FOXE2

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 bamforth syndrome. Among its related pathways are Insulin secretion and TSH signaling pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor 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

Genomic Location for FOXE1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXE1 Gene

Regulatory Elements 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 for FOXE1 Gene

Gene Families for FOXE1 Gene

HGNC:
  • FOX :Forkhead boxes

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
Domain:
  • Contains 1 fork-head DNA-binding domain.:
    • O00358
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 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0003677 DNA binding IDA 9697705
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 9697705
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with FOXE1: view
genes like me logo Genes that share phenotypes with FOXE1: view

Animal Models for FOXE1 Gene

MGI Knock Outs for FOXE1:

miRNA for FOXE1 Gene

miRTarBase miRNAs that target FOXE1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
cytosol 2

Gene Ontology (GO) - Cellular Components for FOXE1 Gene

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

Pathways for FOXE1 Gene

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

Pathways by source for FOXE1 Gene

1 BioSystems pathway for FOXE1 Gene
1 KEGG pathway for FOXE1 Gene

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:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006590 thyroid hormone generation ISS --
genes like me logo Genes that share ontologies with FOXE1: view

Compounds for FOXE1 Gene

(3) Novoseek inferred chemical compound relationships for FOXE1 Gene

Compound -log(P) Hits PubMed IDs
iodide 62.4 3
alanine 20.8 7
sodium 14.5 3
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 (43.1).

Integrated Proteomics: protein expression 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 expressions with FOXE1: view

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 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FOXE1 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxe1 35
  • 85.2 (n)
  • 88.83 (a)
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 fd96Cb 37
  • 41 (a)
fd64A 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea pha-4 36
  • 16 (a)
ManyToMany
unc-130 37
  • 49 (a)
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

Selected 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

O00358-FOXE1_HUMAN
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 MAF
rs1443434 -- 97,855,197(+) CACCC(G/T)GTGTA utr-variant-3-prime
rs1443435 -- 97,855,301(+) TCTGG(C/T)ATTCT utr-variant-3-prime
rs3029497 -- 97,856,811(+) gctct(-/CCT)tttac downstream-variant-500B
rs7043516 -- 97,855,151(+) GACCG(A/C)GCAGG utr-variant-3-prime
rs7046645 -- 97,855,093(+) CGCAA(C/T)CTGAG 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

Relevant External Links for FOXE1 Gene

HapMap Linkage Disequilibrium report
FOXE1
Human Gene Mutation Database (HGMD)
FOXE1

Disorders for FOXE1 Gene

(1) OMIM Diseases for FOXE1 Gene (602617)

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.

(4) University of Copenhagen DISEASES for FOXE1 Gene

(12) Novoseek inferred disease relationships for FOXE1 Gene

Disease -log(P) Hits PubMed IDs
thyroid ectopic 93.4 15
congenital hypothyroidism 87.7 10
choanal atresia 78.5 5
cleft palate 68.8 12
hypoplasia 65.3 2

Relevant External Links for FOXE1

Genetic Association Database (GAD)
FOXE1
Human Genome Epidemiology (HuGE) Navigator
FOXE1
genes like me logo Genes that share disorders with FOXE1: view

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
  2. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. (PMID: 11580993) Hishinuma A. … Ieiri T. (Eur. J. Endocrinol. 2001) 3 23 48
  3. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). (PMID: 10403172) Macchia P.E. … Di Lauro R. (Biochimie 1999) 3 4 23
  4. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (PMID: 12165566) Castanet M. … Polak M. (Hum. Mol. Genet. 2002) 3 4 23
  5. 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 48

Products for FOXE1 Gene

  • Addgene plasmids for FOXE1

Sources for FOXE1 Gene

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