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

FOXL2 Gene

protein-coding   GIFtS: 55
GCID: GC03M138663

forkhead box L2


(Previous symbol: BPES)
 Explore 23 diseases affiliated with
FOXL2 via our new
 Human Malady Compendium 
Biological research products
for FOXL2
    

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

Aliases
Forkhead Box L21 2     POF32 5
BPES1 2 5     PINTO2
BPES11 2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FOXL2:
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)

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)


(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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FOXL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: FOXL2_HUMAN, P58012 (See protein sequence)
Recommended Name: Forkhead box protein L2  
Size: 376 amino acids; Da
Subunit: Interacts with ESR1 (By similarity). Interacts with SMAD3 (By similarity). Interacts with DDX20. Interacts
with UBE2I/UBC9
Subcellular location: Nucleus
Secondary accessions: Q4ZGJ3

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

Post-translational modifications:

  • Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58012

  • FOXL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_075555.1  
    ENSEMBL proteins: 
     ENSP00000333188  

    Human Recombinant Protein Products: 
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    Uscn Proteins for FOXL2

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

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


    FOXL2 for ontologies           About GeneDecksing



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

    FOXL2 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 P58012

    ProtoNet protein and cluster: P58012

    UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
    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: 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

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    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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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (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 NAS12471206
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0005515protein binding IPI16153597


    FOXL2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Foxl2tm1Gpil for FOXL2
         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Foxl2):
     cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging 
     normal  reproductive system  vision/eye 

    FOXL2 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 FOXL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for FOXL2 (P580123 ENSP000003331884) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAK1Q131533, ENSP000002785684I2D: score=1 STRING: ENSP00000278568
    SMAD3P840223, ENSP000003329734I2D: score=1 STRING: ENSP00000332973
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    ESR2Q927313I2D: score=1 
    SOX9P484363I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development ISS--
    GO:0002074extraocular skeletal muscle development IMP12630957
    GO:0006309apoptotic DNA fragmentation IMP16153597
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006917induction of apoptosis IBA--


    FOXL2 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

    FOXL2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FOXL2
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FOXL2 

    (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,
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    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 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)

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXL2
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.208101  DT.120867932 

    24/26 AceView cDNA sequences (see all 26):

    NM_023067 AA156960 AI887435 BC062549 BF194985 BX095729 BF513496 AI370750 
    BI254526 BC019896 BF195667 AI140383 AI089172 AF301906 AI224168 AA156761 
    AA128030 BU540786 BF507370 BQ227945 AA088215 AA128061 BF221724 AA088637 

    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

    FOXL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTAGACGCG

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

    About this image

    FOXL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryOvigerous CordOvarian Somatic CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    OvaryAntral FollicleMature Granulosa CellsOvary
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FOXL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXL2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXL2: 
              Apoptosis 384HT in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
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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 FOXL2 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FOXL21 forkhead box L2 79.5(n)
    79.28(a)
      503512  NM_001012612.1  NP_001012630.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxl21 forkhead box L2 69.4(n)
    71.8(a)
      692279  NM_001045252.1  NP_001038717.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    17(a)
    1 ↔ 1
    Group8.16(377700-385786)


    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)
    About This Section
    Paralogs for FOXL2 gene
    FOXF12  FOXA22  FOXD4L12  FOXF22  FOXC22  FOXB12  FOXI22  FOXE32  
    FOXC12  FOXD4L22  FOXQ12  FOXD4L32  FOXA32  FOXD12  FOXD32  FOXD4L52  
    FOXD4L42  FOXE12  FOXL12  FOXA12  FOXI12  FOXB22  FOXD4L62  FOXS12  
    FOXD22  FOXD42  
    17 SIMAP similar genes for FOXL2 using alignment to 6 protein entries:     FOXL2_HUMAN (see all proteins):
    FOXJ3    FOXC2    FOXK2    FOXI1    FOXA1    FOXE1
    FOXA2    FOXL1    FOXC1    FOXD4    FOXI3    FOXD1
    FOXG1    FOXI2    KIAA0415    FOXF1    FOXS1

    FOXL2 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

    10/75 NCBI SNPs in FOXL2 are shown (see all 75    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378841,2
    Cpathogenic246817252(-) GTACAT/GCATCG 1 -- us2k1 ese31Minor allele frequency- G:0.00NA 2
    rs1048937391,2
    Cpathogenic246817587(-) ACCTGC/TAGTCT 1 -- us2k10--------
    rs1048937411,2
    Cpathogenic246817656(-) CCTGCC/TAGATG 1 -- us2k10--------
    rs289378851,2
    Cpathogenic246817773(-) GGCCGA/TACACA 1 -- us2k1 ese30--------
    rs1048937381,2
    Cpathogenic246817823(-) TCGTAC/GAATGG 1 -- us2k10--------
    rs1142044401,2
    C,F,--136039683(+) TCAGGC/TCAGGG 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs794875891,2
    F,--136041888(+) ACGGCG/AAGGGG 1 -- int11Minor allele frequency- A:0.09WA 118
    rs732316421,2
    C,F,--136042820(+) TATGAG/CAGAGA 1 -- int11Minor allele frequency- C:0.05NA 120
    rs9312501,2
    C,F,H,--136043163(-) AGATGC/ATGAAT 1 -- int127Minor allele frequency- A:0.15MN NS EA NA WA CSA 4397
    rs133257881,2
    C--138662610(+) CAGAGA/GTTAGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for FOXL2 (138663066 - 138665982 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXL2: --
    Human Gene Mutation Database (HGMD): FOXL2

    Locus Specific Mutation Databases (LSDB): FOXL2

    1 SABiosciences Cancer Mutation PCR Assay for FOXL2:
    Cosmic IdAA Change
    33661p.C134W
    2 SABiosciences Cancer Mutation PCR Arrays containing FOXL2:
    Ovarian Cancer  
    Cancer Comprehensive Panel 384HT
    1 SABiosciences qBiomarker Copy Number PCR Array containing FOXL2:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FOXL2 for disorders           About GeneDecksing

    OMIM gene information: 605597   
    OMIM disorders: 110100  608996  
    UniProtKB/Swiss-Prot: FOXL2_HUMAN, P58012
  • Defects in FOXL2 are a cause of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
  • [MIM:110100]; also known as blepharophimosis syndrome. It is an autosomal dominant disorder characterized by eyelid
    dysplasia, small palpebral fissures, drooping eyelids and a skin fold running inward and upward from the lower lid. 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. 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
  • Defects in FOXL2 are a cause of premature ovarian failure type 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

    20/23 diseases for FOXL2 (see all 23):    About MalaCards
    premature ovarian failure 3    premature ovarian failure    blepharophimosis    blepharophimosis, ptosis, and epicanthus inversus syndrome
    hereditary neuralgic amyotrophy    corpus luteum cyst    developmental disabilities    ptosis
    sex reversal    disorders of sex development    laryngostenosis    steatitis
    hypertropia    granulosa cell tumor of the ovary    mobius syndrome    gonadoblastoma
    ovarian cyst    amenorrhea    keloids    microcephaly

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

    9 Novoseek 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
    Blepharophimosis, Ptosis, and Epicanthus Inversus

    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)
    About This Section

    PubMed articles for FOXL2 gene, integrated from 9 sources (see all 154):
    (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. (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. (2002)
    3. The human FOXL2 mutation database. (PubMed id 15300845)1, 2, 9 Beysen D.... De Baere E. (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. (2009)
    5. 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. (2009)
    6. 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. (2001)
    7. 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. (2008)
    8. 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. (2004)
    9. Mutation of FOXL2 in granulosa-cell tumors of the ova ry. (PubMed id 19516027)1, 2, 9 Shah S.P....Huntsman D.G. (2009)
    10. Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis. (PubMed id 16153597)1, 2, 9 Lee K....Bae J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 668 HGNC: 1092 AceView: FOXL2 Ensembl:ENSG00000183770 euGenes: HUgn668
    ECgene: FOXL2 H-InvDB: FOXL2

    (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 FOXL2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXL2

    (Patent information from GeneIP,
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    About This Section
    Patent Information for FOXL2 gene:
    Search GeneIP for patents involving FOXL2

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