Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXE1 Gene

protein-coding   GIFtS: 55
GCID: GC09P100615

forkhead box E1 (thyroid transcription factor 2)

(Previous name: forkhead box E2 )
(Previous symbols: FKHL15, TITF2, FOXE2)
 Explore 23 diseases affiliated with
FOXE1 via our new
 Human Malady Compendium 
Biological research products
for FOXE1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Forkhead Box E1 (Thyroid Transcription Factor 2)1 2     Forkhead Box Protein E22 3
FKHL151 2 3 5     Forkhead-Related Protein FKHL152 3
TITF21 2 3 5     Thyroid Transcription Factor 22 3
FOXE21 2 3     HFKL52 3
HFKH41 2 3     HNF-3/Fork Head-Like Protein 52 3
TTF-21 2 3     Forkhead Box Protein E12
TTF22 3 5     Forkhead, Drosophila, Homolog-Like 152
Forkhead Box E21 2     

External Ids:    HGNC: 38061   Entrez Gene: 23042   Ensembl: ENSG000001789197   OMIM: 6026175   UniProtKB: O003583   

Export aliases for FOXE1 gene to outside databases

Previous GC identifers: GC09P091440 GC09P092359 GC09P094072 GC09P095995 GC09P097695 GC09P099655 GC09P070216


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FOXE1:
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)

UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
Function: Probable transcription factor. Could be involved in thyroid gland organogenesis

Gene Wiki entry for FOXE1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXE1 gene promoter:
         GR   p53   NRSF form 1   NRSF form 2   Nkx6-1   FOXO4   FOXO1a   GR-alpha   Pax-4a   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FOXE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22

FOXE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXE1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P100615:  view genomic region     (about GC identifiers)

Start:
100,615,536 bp from pter      End:
100,618,997 bp from pter
Size:
3,462 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358 (See protein sequence)
Recommended Name: Forkhead box protein E1  
Size: 373 amino acids; 38076 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=CAA64246.1; Type=Miscellaneous discrepancy; Note=Several conflicts;
Secondary accessions: O75765 Q5T109 Q99526

Explore the universe of human proteins at neXtProt for FOXE1: NX_O00358

Post-translational modifications:

  • Phosphorylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00358

  • FOXE1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004464.2  
    ENSEMBL proteins: 
     ENSP00000364265  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for FOXE1 
    GenScript Custom Purified and Recombinant Proteins Services for FOXE1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FOXE1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9697705
    GO:0005667transcription factor complex IBA--


    FOXE1 for ontologies           About GeneDecksing



    FOXE1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of FOXE1
    Browse R&D Systems for Antibodies
    OriGene Antibodies: FOXE1
    OriGene Custom Antibody Services for FOXE1 
    GenScript Custom Superior Antibodies Services for FOXE1
    Novus Biologicals FOXE1 Antibodies
    Abcam antibodies for FOXE1 
    Uscn Antibodies for FOXE1
    ThermoFisher Antibodies for FOXE1

    Assay Products for FOXE1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FOXE1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FOXE1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FOXE1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry O00358

    ProtoNet protein and cluster: O00358

    UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
    Similarity: Contains 1 fork-head DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
    Function: Probable transcription factor. Could be involved in thyroid gland organogenesis

         Genatlas biochemistry entry for FOXE1:
    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

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FOXE1
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXE1 (see all 13):
    hsa-miR-28-3p hsa-miR-485-3p hsa-miR-513c hsa-miR-548aa hsa-miR-373* hsa-miR-583 hsa-miR-3680 hsa-miR-146a*
    SwitchGear 3'UTR luciferase reporter plasmidFOXE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXE1 (see all 7)
    OriGene shRNA RFP: FOXE1
    OriGene siRNA: FOXE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FOXE1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FOXE1 (NM_004473)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXE1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FOXE1
    Search LifeMap BioReagents cell lines for FOXE1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE1

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA9697705
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9697705
    GO:0003702RNA polymerase II transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--


    FOXE1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Foxe1tm1Rdl for FOXE1
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Foxe1):
     craniofacial  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  integument 
     mortality/aging 

    FOXE1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXE1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FOXE1 (O003583 ENSP000003642654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCB3Q019703, ENSP000002792304I2D: score=1 STRING: ENSP00000279230
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter NAS9169137
    GO:0002089lens morphogenesis in camera-type eye IBA--
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0006590thyroid hormone generation ISS--
    GO:0007389pattern specification process IBA--


    FOXE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FOXE1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXE1
    3 Novoseek chemical compound relationships for FOXE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iodide 62.4 4 16042141 (1), 18211961 (1), 17077129 (1)
    alanine 20.8 9 11580993 (3), 17318017 (3), 15320969 (1)
    sodium 14.5 4 16042141 (1), 18211961 (1), 17077129 (1)

    Search CenterWatch for drugs/clinical trials and news about FOXE1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FOXE1 gene: 
    NM_004473.3  

    Unigene Cluster for FOXE1:

    Forkhead box E1 (thyroid transcription factor 2)
    Hs.159234  [show with all ESTs]
    Unigene Representative Sequence: U89995
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375123(uc004axu.3)

    miRNA
    Products:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FOXE1
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXE1 (see all 13):
    hsa-miR-28-3p hsa-miR-485-3p hsa-miR-513c hsa-miR-548aa hsa-miR-373* hsa-miR-583 hsa-miR-3680 hsa-miR-146a*
    SwitchGear 3'UTR luciferase reporter plasmidFOXE1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXE1 (see all 7)
    OriGene shRNA RFP: FOXE1
    OriGene siRNA: FOXE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXE1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FOXE1 (NM_004473)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXE1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FOXE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FOXE1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXE1

    Additional cDNA sequence: U89995.1 

    1 DOTS entry:

    DT.204068 

    2 AceView cDNA sequences:

    NM_004473 U89995 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAACTTGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FOXE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXE1

    SOURCE GeneReport for Unigene cluster: Hs.159234

    UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
    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

        SABiosciences Expression via Pathway-Focused PCR Array including FOXE1: 
              Hedgehog Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FOXE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FOXE1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXE1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FOXE1 gene from 2/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC7687891 forkhead box protein E1-like 69.79(n)
    64.42(a)
      768789  XM_003643088.1  XP_003643136.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxe11 forkhead box E1 (thyroid transcription factor 2) 61.86(n)
    61.74(a)
      567676  XM_690973.3  XP_696065.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXE1 gene
    FOXF12  FOXA22  FOXD4L12  FOXF22  FOXC22  FOXB12  FOXI22  FOXE32  
    FOXC12  FOXD4L22  FOXQ12  FOXD4L32  FOXA32  FOXD12  FOXD32  FOXD4L52  
    FOXD4L42  FOXL12  FOXA12  FOXI12  FOXB22  FOXD4L62  FOXS12  FOXL22  
    FOXD22  FOXD42  
    16 SIMAP similar genes for FOXE1 using alignment to 1 protein entry:     FOXE1_HUMAN:
    FOXC1    FOXD4L2    FOXD4L3    FOXD4L4    FOXD4L6    FOXD4
    FOXA2    FOXD4L5    FOXL2    FOXD3    FOXE3    FOXA3
    FOXL1    FOXD2    FOXD1    FOXI3

    FOXE1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
    Polymorphism: 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


    10/131 NCBI SNPs in FOXE1 are shown (see all 131    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048941111,2
    Cpathogenic108541974(+) GCATCC/TGCCAC 2 R C mis10--------
    rs1048941101,2
    Cpathogenic108542084(+) CATGGC/TCATCG 2 A V mis10--------
    rs289375751,2
    Cpathogenic108542108(+) CTACAG/ACTACA 2 /N /S mis1 ese31Minor allele frequency- A:0.00NA 2
    rs727535061,2
    C,F,--70214695(+) ATCACG/ATTAGG 1 -- us2k12Minor allele frequency- A:0.12WA NA 238
    rs781645731,2
    C,--70214819(+) ATTTTA/TAAATT 1 -- us2k10--------
    rs727535081,2
    C,F,--70214891(+) TTACTT/CGGGAA 1 -- us2k12Minor allele frequency- C:0.13WA NA 238
    rs559172481,2
    --70215159(+) ACTCTC/TGTCTT 1 -- us2k10--------
    rs47431371,2
    F,--70215238(+) CCCCCC/ACACCC 1 -- us2k1 tfbs3 trp31Minor allele frequency- A:0.15NA 120
    rs746065991,2
    C,--70215657(+) TGGGGG/TTCTTC 1 -- us2k12Minor allele frequency- T:0.17CSA WA 120
    rs354233631,2
    C--70215716(+) CGTCGT/GCTTTA 1 -- us2k11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for FOXE1 (100615536 - 100618997 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXE1: --
    Human Gene Mutation Database (HGMD): FOXE1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXE1
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FOXE1 for disorders           About GeneDecksing

    OMIM gene information: 602617   
    OMIM disorders: 241850  
    UniProtKB/Swiss-Prot: FOXE1_HUMAN, O00358
  • Defects in FOXE1 are the cause of Bamforth-Lazarus syndrome (BLS) [MIM:241850]. BLS is associated with thyroid
  • agenesis, cleft palate and choanal atresia

    20/23 diseases for FOXE1 (see all 23):    About MalaCards
    hereditary sensory neuropathy    cleft palate    thyroiditis    congenital hypothyroidism
    hypothyroidism    bamforth-lazarus syndrome    choanal atresia    neuropathy
    cleft lip/palate    cleft palate, isolated    cleft lip    premature ovarian failure
    charge syndrome    thyroid agenesis    basal cell carcinoma    mucoepidermoid carcinoma
    squamous cell carcinoma    hyperthyroidism    genetic disease    carcinoma

    4 diseases from the University of Copenhagen DISEASES database for FOXE1:
    Choanal atresia     Cleft palate     Hypothyroidism     Cleft lip

    10/12 Novoseek disease relationships for FOXE1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid ectopic 93.4 20 11580993 (3), 10403172 (2), 9697705 (2), 16882747 (2) (see all 10)
    congenital hypothyroidism 87.7 14 15320969 (2), 10403172 (1), 11502839 (1), 16042141 (1) (see all 9)
    choanal atresia 78.5 9 9697705 (2), 12203737 (1), 16882747 (1), 12165566 (1)
    cleft palate 68.8 19 12165566 (3), 15320969 (3), 9697705 (2), 10403172 (1) (see all 7)
    hypoplasia 65.3 2 11580993 (1), 12786749 (1)
    carcinoma anaplastic 61.7 3 18084247 (1)
    carcinoma basal cell 46.9 3 15140221 (2), 15367491 (1)
    thyroid diseases 39.9 2 16042141 (1)
    somatic mutations 39.4 1 17684388 (1)
    thyroid papillary carcinoma 36.7 1 11325833 (1)

    Genetic Association Database (GAD): FOXE1
    Human Genome Epidemiology (HuGE) Navigator: FOXE1 (25 documents)

    Export disorders for FOXE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FOXE1 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with FOXE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. (PubMed id 9697705)1, 2, 3, 9 Clifton-Bligh R.J.... Chatterjee V.K. (1998)
    2. FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. (PubMed id 9169137)1, 2, 3 Chadwick B.P.... Frischauf A.-M. (1997)
    3. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. (PubMed id 11580993)1, 4, 9 Hishinuma A....Ieiri T. (2001)
    4. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). (PubMed id 10403172)1, 2, 9 Macchia P.E.... Di Lauro R. (1999)
    5. A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (PubMed id 16882747)1, 2, 9 Baris I.... Battaloglu E. (2006)
    6. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (PubMed id 12165566)1, 2, 9 Castanet M.... Polak M. (2002)
    7. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    8. The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern. (PubMed id 9052737)1, 2 Wiese S.... Thies U. (1997)
    9. Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions. (PubMed id 11762722)1, 9 Sequeira M.J....Ludgate M. (2001)
    10. Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. (PubMed id 15320969)1, 9 Tonacchera M....Pinchera A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2304 HGNC: 3806 AceView: FOXE1 Ensembl:ENSG00000178919 euGenes: HUgn2304
    ECgene: FOXE1 H-InvDB: FOXE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FOXE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXE1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FOXE1 gene:
    Search GeneIP for patents involving FOXE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of FOXE1
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for FOXE1   OriGene shRNA RFP for FOXE1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXE1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FOXE1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FOXE1   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FOXE1   OriGene Custom Protein Services for FOXE1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FOXE1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXE1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXE1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXE1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXE1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXE1
     GenScript Custom Purified and Recombinant Proteins Services for FOXE1 GenScript cDNA clones with any tag delivered in your preferred vector for FOXE1
     GenScript Custom Assay Services for FOXE1 GenScript Custom Superior Antibodies Services for FOXE1
     GenScript Custom overexpressing Cell Line Services for FOXE1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FOXE1 promoter
     Search Chromatin IP Primers for FOXE1
     RT2 qPCR Primer Assay in human, mouse, rat FOXE1
     GNC Network for FOXE1
     SABiosciences PCR Arrays including human, mouse, rat FOXE1
     Search Tocris compounds for FOXE1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FOXE1 antibodies
     Antibodies for FOXE1
     See all of Abcam's Antibodies, Kits and Proteins for FOXE1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     FOXE1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FOXE1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE1
     SwitchGear 3'UTR luciferase reporter plasmids for FOXE1
     Browse SwitchGear Promoter luciferase reporter plasmids for FOXE1
     ThermoFisher Antibodies for FOXE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXE1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FOXE1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4