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

FOXN1 Gene

protein-coding   GIFtS: 53
GCID: GC17P026850

forkhead box N1

(Previous names: winged-helix nude, Rowett nude )
(Previous symbols: WHN, RONU)
 Explore 14 diseases affiliated with
FOXN1 via our new
 Human Malady Compendium 
Biological research products
for FOXN1
    

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

Aliases
Forkhead Box N11 2     Winged-Helix Nude1 2
WHN1 2 3 5     Winged-Helix Transcription Factor Nude2 3
RONU1 2 3     Forkhead Box Protein N12
FKHL201 2     Winged Helix Nude2
Rowett Nude1 2     

External Ids:    HGNC: 127651   Entrez Gene: 84562   Ensembl: ENSG000001091017   OMIM: 6008385   UniProtKB: O153533   

Export aliases for FOXN1 gene to outside databases

Previous GC identifers: GC17P026702 GC17P026996 GC17P023875 GC17P023059


(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 FOXN1:
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic
phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to
the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin
gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder
congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. (provided
by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FOXN1_HUMAN, O15353
Function: Transcriptional regulator involved in development

Gene Wiki entry for FOXN1


(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_000017.10  NC_018928.1  NT_010799.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXN1 gene promoter:
         Max1   SRF   SRF (504 AA)   Olf-1   Nkx2-5   NF-kappaB   AREB6   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXN1


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

Entrez Gene cytogenetic band: 17q11-q12   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11-q12

FOXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXN1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P026850:  view genomic region     (about GC identifiers)

Start:
26,833,261 bp from pter      End:
26,865,914 bp from pter
Size:
32,654 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: FOXN1_HUMAN, O15353 (See protein sequence)
Recommended Name: Forkhead box protein N1  
Size: 648 amino acids; 68925 Da
Subcellular location: Nucleus
Secondary accessions: B2R9Q7 O15352

Explore the universe of human proteins at neXtProt for FOXN1: NX_O15353

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15353

  • FOXN1 Protein expression data from MOPED and PaxDb:    About this image 
    FOXN1 Protein Expression
    REFSEQ proteins: NP_003584.2  
    ENSEMBL proteins: 
     ENSP00000462159   ENSP00000464645   ENSP00000226247  

    Human Recombinant Protein Products for FOXN1: 
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    Uscn Proteins for FOXN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS10767081
    GO:0005667transcription factor complex IBA--

    FOXN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FOXN1


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

    FOXN1 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 O15353

    ProtoNet protein and cluster: O15353

    UniProtKB/Swiss-Prot: FOXN1_HUMAN, O15353
    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXN1_HUMAN, O15353
    Function: Transcriptional regulator involved in development

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IBA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0008134transcription factor binding IBA--
    GO:0008301DNA binding, bending IBA--
    GO:0043565sequence-specific DNA binding IEA--
         
    FOXN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FOXN1:
     Decreased viability of wild-ty 

         15 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Foxn1):
     cellular  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     normal  pigmentation  reproductive system  skeleton  tumorigenesis 

    FOXN1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Foxn1tm1Nrm for FOXN1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FOXN1 

    miRNA
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    hsa-miR-4314 hsa-miR-502-5p hsa-miR-3909 hsa-miR-215 hsa-miR-3153 hsa-miR-192 hsa-miR-3667-3p
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXN1


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FOXN1

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

    1 Interacting protein for FOXN1 (ENSP000002262474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR2ENSP000003637084STRING: ENSP00000363708
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002260lymphocyte homeostasis IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10767081
    GO:0006366transcription from RNA polymerase II promoter TAS10767081
    GO:0006952defense response TAS7969402
    GO:0007389pattern specification process IBA--

    FOXN1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXN1
    Search CenterWatch for drugs/clinical trials and news about FOXN1 

    (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, Sirion Biotech, 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 FOXN1 gene: 
    NM_003593.2  

    Unigene Cluster for FOXN1:

    Forkhead box N1
    Hs.663679  [show with all ESTs]
    Unigene Representative Sequence: NM_003593
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577936 ENST00000579795 ENST00000226247(uc010crm.3 uc002hbj.3)


    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXN1:
    hsa-miR-4314 hsa-miR-502-5p hsa-miR-3909 hsa-miR-215 hsa-miR-3153 hsa-miR-192 hsa-miR-3667-3p
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXN1

    Additional cDNA sequence: 

    AK313878.1 Y11739.1 

    1 DOTS entry:

    DT.92042910 

    3 AceView cDNA sequences:

    NM_003593 Y11739 BF836852 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FOXN1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                            
    SP2:                                                            


    ECgene alternative splicing isoforms for FOXN1

    (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

    FOXN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCTGTCCAG
    FOXN1 Expression
    About this image
    See FOXN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXN1

    SOURCE GeneReport for Unigene cluster: Hs.663679

    UniProtKB/Swiss-Prot: FOXN1_HUMAN, O15353
    Tissue specificity: Expressed in thymus

        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXN1: 
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (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 animals.

    Orthologs for FOXN1 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FOXN11 forkhead box N1 64.27(n)
    57.91(a)
      417570  XM_415816.3  XP_415816.3 
    lizard
    (Anolis carolinensis)
    Reptilia FOXN16
    --
    62(a)
    1 ↔ 1
    GL343470.1(488412-497837)
    zebrafish
    (Danio rerio)
    Actinopterygii foxn11 forkhead box N1 57.81(n)
    53.66(a)
      266748  NM_212573.1  NP_997738.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Crg-16
    jumu6
    (see all 3)
    jumeau
    (see all 3)
    18(a)
    13(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    X(3688900-3691372)
    3R(6175906-6187343)


    ENSEMBL Gene Tree for FOXN1 (if available)
    TreeFam Gene Tree for FOXN1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXN1 gene
    FOXJ12  FOXN32  FOXK12  FOXN42  FOXK22  FOXP42  FOXG12  FOXJ32  
    FOXJ22  FOXP22  FOXN22  FOXP32  FOXP12  
    1 SIMAP similar gene for FOXN1 using alignment to 2 protein entries:     FOXN1_HUMAN (see all proteins):
    FOXN4

    FOXN1 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

    10/319 NCBI SNPs in FOXN1 are shown (see all 319    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945621,2
    Cpathogenic30147645(+) ACCAGC/TGAATG 2 R * stg10--------
    rs759471321,2
    --23058765(+) ACTGTG/TCACCA 1 -- us2k10--------
    rs598639781,2
    C--23059721(+) GTGGAG/TGTGGC 1 -- us2k12Minor allele frequency- T:0.02WA 120
    rs739891271,2
    C--23060970(+) GTTGGC/TCTGGC 1 -- int12Minor allele frequency- T:0.13WA 120
    rs1176882691,2
    C,F--23061116(+) ACACAC/TCNNNN 1 -- int11Minor allele frequency- T:0.02NA 120
    rs776398061,2
    --23061154(+) CAGAGA/GCCAAG 1 -- int10--------
    rs739891281,2
    C--23061211(+) AGCCTT/AAGCAT 1 -- int12Minor allele frequency- A:0.13WA 120
    rs1126933821,2
    C--23062360(+) GCCGGC/TCTCTC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs732785131,2
    C--23062452(+) ACTCAC/TGCAGG 1 -- int12Minor allele frequency- T:0.03WA 120
    rs620667661,2
    --23063683(+) CCCACC/TCAGAG 1 -- int12Minor allele frequency- T:0.09NA 122

    HapMap Linkage Disequilibrium report for FOXN1 (26833261 - 26865914 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXN1: --
    Human Gene Mutation Database (HGMD): FOXN1

    Locus Specific Mutation Databases (LSDB): FOXN1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FOXN1

    (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

    FOXN1 for disorders           About GeneDecksing

    OMIM gene information: 600838   
    OMIM disorders: 601705  
    UniProtKB/Swiss-Prot: FOXN1_HUMAN, O15353
  • Defects in FOXN1 are the cause of T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND)
  • [MIM:601705]. A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and
    ridging and pitting of all nails

    14 diseases for FOXN1:    About MalaCards
    alopecia    t-cell immunodeficiency, congenital alopecia and nail dystrophy    immunodeficiency    neural tube defect
    severe combined immunodeficiency    combined immunodeficiency    anencephaly    nevus
    squamous cell carcinoma    mediastinitis    keratosis    hypogonadism
    hermaphroditism    carcinoma

    1 disease from the University of Copenhagen DISEASES database for FOXN1:
    Alopecia

    1 Novoseek disease relationship for FOXN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    athymia 95.8 1 10483588 (1)

    Human Genome Epidemiology (HuGE) Navigator: FOXN1 (2 documents)

    Export disorders for FOXN1 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 FOXN1 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with FOXN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of mouse and human nude genes. (PubMed id 9321431)1, 2, 3, 9 Schorpp M.... Boehm T. (1997)
    2. Exposing the human nude phenotype. (PubMed id 10206641)1, 2 Frank J.... Christiano A.M. (1999)
    3. Human clinical phenotype associated with FOXN1 mutati ons. (PubMed id 20429426)1, 9 Pignata C....Amorosi S. (2009)
    4. Transcription of the nude gene (WHN) in human normal organs and mediastinal and pulmonary tumors. (PubMed id 10483588)1, 9 Gattenlohner S....Marx A. (1999)
    5. Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype. (PubMed id 10767081)1, 9 Schlake T....Boehm T. (2000)
    6. [Post-thymus transplant vitiligo in a child with Foxn1 deficiency]. (PubMed id 22721479)1 Levy E....Lipsker D. (2012)
    7. FOXN1 mutation abrogates prenatal T-cell development in humans. (PubMed id 21507891)1 Vigliano I....Pignata C. (2011)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1 Jugessur A....Murray J.C. (2010)
    9. A positive FGFR3/FOXN1 feedback loop underlies benign skin keratosis versus squamous cell carcinoma formation in humans. (PubMed id 19729838)1 Mandinova A....Dotto G.P. (2009)
    10. Dedicated epithelial recipient cells determine pigmentation patterns. (PubMed id 17803914)1 Weiner L....Brissette J.L. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8456 HGNC: 12765 AceView: FOXN1 Ensembl:ENSG00000109101 euGenes: HUgn8456
    ECgene: FOXN1 H-InvDB: FOXN1

    (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 FOXN1 Pharmacogenomics, SNPs, Pathways
    FOXN1basehttp://bioinf.uta.fi/FOXN1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXN1

    (Patent information from GeneIP,
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    Patent Information for FOXN1 gene:
    Search GeneIP for patents involving FOXN1

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