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FOXL2 Gene

protein-coding   GIFtS: 57
GCID: GC03M138663

Forkhead Box L2


(Previous symbol: BPES)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Forkhead Box L21 2     POF32 5
BPES1 2 5     PINTO2
BPES12 5     Forkhead Box Protein L22
PFRK2 5     Forkhead Transcription Factor FOXL22

External Ids:    HGNC: 10921   Entrez Gene: 6682   Ensembl: ENSG000001837707   OMIM: 6055975   UniProtKB: P580123   

Export aliases for FOXL2 gene to outside databases

Previous GC identifers: GC03M135601 GC03M139464 GC03M139944 GC03M139983 GC03M140145 GC03M136038


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FOXL2 Gene:
This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may
play a role in ovarian development and function. Mutations in this gene are a cause of blepharophimosis syndrome
and premature ovarian failure 3. (provided by RefSeq, Jun 2009)

GeneCards Summary for FOXL2 Gene:
FOXL2 (forkhead box L2) is a protein-coding gene. Diseases associated with FOXL2 include gynandroblastoma, and blepharophimosis, ptosis, and epicanthus inversus syndrome. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXA2.

UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
Function: Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and
repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to
testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic
activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By
similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of
FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates
SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2

Gene Wiki entry for FOXL2 (Forkhead box L2) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXL2 gene promoter:
         E2F-3a   E2F   E2F-1   FOXO4   FOXO1a   E2F-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXL2 promoter sequence
   Search Chromatin IP Primers for FOXL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXL2


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

Entrez Gene cytogenetic band: 3q23   Ensembl cytogenetic band:  3q22.3   HGNC cytogenetic band: 3q23

FOXL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M138663:  view genomic region     (about GC identifiers)

Start:
138,663,066 bp from pter      End:
138,665,982 bp from pter
Size:
2,917 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012 (See protein sequence)
Recommended Name: Forkhead box protein L2  
Size: 376 amino acids; 38772 Da
Subunit: Interacts with ESR1 (By similarity). Interacts with SMAD3 (By similarity). Interacts with DDX20.
Interacts with UBE2I/UBC9
Secondary accessions: Q4ZGJ3

Explore the universe of human proteins at neXtProt for FOXL2: NX_P58012

Explore proteomics data for FOXL2 at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_075555.1  
    ENSEMBL proteins: 
     ENSP00000333188  

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    Cloud-Clone Corp. ELISAs for FOXL2
    Cloud-Clone Corp. CLIAs for FOXL2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FOX: Forkhead boxes

    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry P58012

    ProtoNet protein and cluster: P58012

    UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXL2_HUMAN, P58012
    Function: Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and
    repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to
    testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic
    activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By
    similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of
    FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates
    SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2
    Induction: In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and
    heat-shock conditions. Down-regulated by SIRT1

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS11175783
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS11175783
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0005515protein binding IPI16153597
         
    FOXL2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for FOXL2:
     Cell division defect  Decreased TP53 protein express  Increased G2M DNA content 

         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Foxl2):
     cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging 
     no phenotypic analysis  normal  reproductive system  vision/eye 

    FOXL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Foxl2tm1Gpil for FOXL2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FOXL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXL2

    miRNA
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    Block miRNA regulation of human, mouse, rat FOXL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FOXL2 (see all 35):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-133a hsa-miR-23a hsa-miR-302b
    SwitchGear 3'UTR luciferase reporter plasmidFOXL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FOXL2

    Gene Editing
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    OriGene clones in human, mouse for FOXL2 (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FOXL2 (NM_023067)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXL2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FOXL2_HUMAN, P58012: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12471206
    GO:0005667transcription factor complex IBA--

    FOXL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXL2: 
              Apoptosis 384HT in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FOXL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for FOXL2 (P580123 ENSP000003331884) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    PAK1Q131533, ENSP000002785684I2D: score=1 STRING: ENSP00000278568
    SMAD3P840223, ENSP000003329734I2D: score=1 STRING: ENSP00000332973
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    SOX9P484363, ENSP000002454794I2D: score=1 STRING: ENSP00000245479
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0001541ovarian follicle development ISS--
    GO:0002074extraocular skeletal muscle development IMP12630957
    GO:0006309apoptotic DNA fragmentation IMP16153597
    GO:0006355regulation of transcription, DNA-templated ----

    FOXL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FOXL2

    1 Novoseek inferred chemical compound relationship for FOXL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 61.5 25 17089161 (3), 16131596 (2), 18158309 (2), 16219626 (2) (see all 15)



    FOXL2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FOXL2 gene: 
    NM_023067.3  

    Unigene Cluster for FOXL2:

    Forkhead box L2
    Hs.289292  [show with all ESTs]
    Unigene Representative Sequence: NM_023067
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000330315(uc003esw.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat FOXL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FOXL2 (see all 35):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-133a hsa-miR-23a hsa-miR-302b
    SwitchGear 3'UTR luciferase reporter plasmidFOXL2 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FOXL2
      QuantiTect SYBR Green Assays in human, mouse, rat FOXL2
      QuantiFast Probe-based Assays in human, mouse, rat FOXL2

    Additional mRNA sequence: 

    AF301906.1 BC019896.1 BC062549.1 DQ089670.1 DQ089671.1 DQ089672.1 FJ598614.1 

    2 DOTS entries:

    DT.208101  DT.120867932 

    Selected AceView cDNA sequences (see all 26):

    AI370750 BC062549 AI887435 NM_023067 BF194985 AA156960 BF513496 BX095729 
    AI089172 AF301906 BI254526 AI224168 BC019896 AI140383 BF195667 AA128030 
    AA156761 BU540786 BF507370 BQ227945 AA088215 AA128061 BF683120 BF221724 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FOXL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTAGACGCG
    FOXL2 Expression
    About this image


    FOXL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    FOXL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.289292

    UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
    Tissue specificity: In addition to its expression in the developing eyelid, it is transcribed very early in
    somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular
    cells of the adult ovary

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXL2: 
              Apoptosis 384HT in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXL2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FOXL2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxl21 , 5 forkhead box L21, 5 88.26(n)1
    94.62(a)1
      9 (51.41 cM)5
    269271  NM_012020.21  NP_036150.11 
     989556075 
    chicken
    (Gallus gallus)
    Aves FOXL26
    Gallus gallus forkhead box L2 (FOXL2), mRNA.
    79(a)
    1 ↔ 1
    9(5200075-5200992)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    21(a)
    many ↔ many
    6(59527327-59547107)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001491171 forkhead box protein L2-like 74.36(n)
    77.44(a)
      100149117  XM_001922826.2  XP_001922861.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta croc6
    crocodile
    18(a)
    1 → many
    3L(21467233-21469579)


    ENSEMBL Gene Tree for FOXL2 (if available)
    TreeFam Gene Tree for FOXL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXL2 gene
    FOXA22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXE32  FOXC12  FOXD4L22  
    FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXL12  FOXA12  
    FOXE12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXD42  
    15 SIMAP similar genes for FOXL2 using alignment to 6 protein entries:     FOXL2_HUMAN (see all proteins):
    FOXJ3    FOXC2    FOXK2    FOXL1    FOXI1    FOXA1
    FOXE1    FOXA2    FOXC1    FOXD4    FOXI3    FOXD1
    FOXG1    FOXI2    KIAA0415

    FOXL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FOXL2 (see all 64)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211964
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0211962 S L mis40--------
    VAR_0211994
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0211992 H R mis40--------
    VAR_0168874
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0168872 S F mis40--------
    VAR_0625494
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0625492 S C mis40--------
    VAR_0168854
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0168852 L F mis40--------
    VAR_0168864
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0168862 N K mis40--------
    VAR_0212034
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0212032 Y C mis40--------
    rs289378841,2,4
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0168832 mis40--------
    VAR_0625464
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)4--see VAR_0625462 W R mis40--------
    rs289378851,2,4
    Premature ovarian failure 3 (POF3)4--see VAR_0212042 mis40--------

    HapMap Linkage Disequilibrium report for FOXL2 (138663066 - 138665982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FOXL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877542CNV Loss21882294
    dgv5263n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): FOXL2
    Locus Specific Mutation Databases (LSDB): FOXL2

    1 Site Specific Mutation Identification with PCR Assay for FOXL2:
    Cosmic IdAA Change
    33661p.C134W
    2 Site Specific Cancer Mutation PCR Panels containing FOXL2:
    Ovarian Cancer
    Cancer Comprehensive Panel 384HT
    1 Copy Number PCR Panel containing FOXL2:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing FOXL2
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605597   
    OMIM disorders: 110100  608996  
    UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]: A disorder characterized
    by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral
    direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female
    infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure
    (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects. Note=The disease is caused by
    mutations affecting the gene represented in this entry. There is a mutational hotspot in the region coding for
    the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in BPES
    type II
  • Premature ovarian failure 3 (POF3) [MIM:608996]: An ovarian disorder defined as the cessation of ovarian
    function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of
    elevated levels of serum gonadotropins and low estradiol. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for FOXL2 (see all 34):    
    About MalaCards
    gynandroblastoma    blepharophimosis, ptosis, and epicanthus inversus syndrome    phimosis    premature ovarian failure 3
    blepharophimosis - epicanthus inversus - ptosis due to a point mutation    blepharophimosis    laryngostenosis    corpus luteum cyst
    granulosa cell tumor of the ovary    hypertropia    blepharophimosis, ptosis, and epicanthus inversus syndrome type 1    blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
    blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion    steatitis    mobius syndrome    hereditary neuralgic amyotrophy
    premature ovarian failure    gonadoblastoma    developmental disabilities    autosomal dominant disease

    8 diseases from the University of Copenhagen DISEASES database for FOXL2:
    Blepharophimosis     Premature ovarian failure     Autosomal dominant disease     Mobius syndrome
    Ovarian dysfunction     Granulosa cell tumor     Laryngostenosis     Infertility

    FOXL2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for FOXL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    blepharophimosis 96.9 37 12810580 (2), 15962237 (2), 16131596 (2), 18642388 (2) (see all 27)
    ovarian failure premature 95.3 37 15059956 (2), 16208278 (2), 19429596 (2), 20222838 (2) (see all 29)
    epicanthus 95.1 17 12810580 (2), 19929410 (2), 16086270 (2), 16131596 (1) (see all 12)
    ovarian dysfunction 81.8 12 16131596 (3), 19515849 (2), 20232352 (2), 17089161 (1) (see all 6)
    developmental disabilities 64.5 4 18726931 (1), 20232352 (1), 11175772 (1)
    granulosa cell tumor 55.9 3 20098707 (1), 20007069 (1), 17430735 (1), 19996294 (1) (see all 5)
    genetic disorder 42.2 4 15257268 (1), 11751061 (1), 15300845 (1), 11468277 (1)
    infertility 24.7 2 19819892 (1), 15459170 (1)
    tumors 2.28 5 17430735 (5), 18721930 (2), 19956657 (2), 19516027 (1) (see all 8)

    GeneTests: FOXL2
    GeneReviews: FOXL2
    Genetic Association Database (GAD): FOXL2
    Human Genome Epidemiology (HuGE) Navigator: FOXL2 (9 documents)

    Export disorders for FOXL2 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)
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    PubMed articles for FOXL2 gene, integrated from 10 sources (see all 170):
    (articles sorted by number of sources associating them with FOXL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. (PubMed id 12938087)1, 2, 4, 9 Udar N....Small K. (Hum. Mutat. 2003)
    2. Identification of novel mutations in FOXL2 associated with premature ovarian failure. (PubMed id 12149404)1, 2, 4, 9 Harris S.E....Shelling A.N. (Mol. Hum. Reprod. 2002)
    3. The human FOXL2 mutation database. (PubMed id 15300845)1, 2, 9 Beysen D.... De Baere E. (Hum. Mutat. 2004)
    4. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. (PubMed id 19010791)1, 2, 9 Benayoun B.A.... Veitia R.A. (Hum. Mol. Genet. 2009)
    5. Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. (PubMed id 20198651)1, 4, 9 Kim M.S....Lee S.H. (J. Pathol. 2010)
    6. Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene. (PubMed id 19744555)1, 2, 9 Kuo F.T.... Pisarska M.D. (Cell. Signal. 2009)
    7. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis- epicanthus inversus (BPES) families demonstrates a genotype -- phenotype correlation. (PubMed id 11468277)1, 2, 9 De Baere E.... Messiaen L. (Hum. Mol. Genet. 2001)
    8. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. (PubMed id 18372316)1, 2, 9 Beysen D....De Baere E. (Hum. Mol. Genet. 2008)
    9. Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure. (PubMed id 15181179)1, 4, 9 Bodega B....Marozzi A. (Mol. Hum. Reprod. 2004)
    10. Mutation of FOXL2 in granulosa-cell tumors of the ovary. (PubMed id 19516027)1, 2, 9 Shah S.P.... Huntsman D.G. (N. Engl. J. Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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)
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    Entrez Gene: 668 HGNC: 1092 AceView: FOXL2 Ensembl:ENSG00000183770 euGenes: HUgn668
    ECgene: FOXL2 H-InvDB: FOXL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FOXL2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FOXL2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXL2 gene:
    Search GeneIP for patents involving FOXL2

    GeneCards and IP:
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