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Aliases for FOXL2 Gene

Aliases for FOXL2 Gene

  • Forkhead Box L2 2 3 5
  • Forkhead Transcription Factor FOXL2 3
  • Forkhead Box Protein L2 3
  • BPES1 3
  • PINTO 3
  • PFRK 3
  • POF3 3
  • BPES 3

External Ids for FOXL2 Gene

Previous HGNC Symbols for FOXL2 Gene

  • BPES

Previous GeneCards Identifiers for FOXL2 Gene

  • GC03M135601
  • GC03M139464
  • GC03M139944
  • GC03M139983
  • GC03M140145
  • GC03M138663
  • GC03M136038

Summaries for FOXL2 Gene

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. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]

CIViC summary for FOXL2 Gene

GeneCards Summary for FOXL2 Gene

FOXL2 (Forkhead Box L2) is a Protein Coding gene. Diseases associated with FOXL2 include Blepharophimosis, Ptosis, And Epicanthus Inversus and Premature Ovarian Failure 3. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is FOXC2.

UniProtKB/Swiss-Prot for FOXL2 Gene

  • 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 Gene

Additional gene information for FOXL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXL2 Gene

Genomics for FOXL2 Gene

GeneHancer (GH) Regulatory Elements for FOXL2 Gene

Promoters and enhancers for FOXL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I138942 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.9 1851 6.1 HDGF SMAD1 ATF1 POLR2B ZNF766 FOS ATF7 REST SMARCB1 ZNF592 FOXL2 FOXL2NB LINC01391 DBR1 DZIP1L ENSG00000272656 CEP70 ACTG1P1 COPB2 MRAS
GH03I138914 Enhancer 1.5 FANTOM5 Ensembl ENCODE 11.2 +31.3 31285 2.5 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF766 CEP70 PIK3CB FAIM LINC01391 FOXL2 FOXL2NB ATP5MC1P3
GH03I138923 Enhancer 1 Ensembl ENCODE 11.6 +23.5 23470 0.3 MEIS2 CTCF PKNOX1 RB1 ARID4B CEBPG ZNF2 ZNF48 RAD21 RFX5 FOXL2 FOXL2NB LINC01391 CEP70 FAIM ATP5MC1P3
GH03I139297 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.8 -353.9 -353879 7.6 HDGF SMAD1 FOXA2 MLX ARNT ARID4B ZNF766 ZNF143 FOS ZNF263 FOXL2NB FOXL2 PIR46128 ENSG00000272656 MRPS22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FOXL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXL2 gene promoter:

Genomic Locations for FOXL2 Gene

Genomic Locations for FOXL2 Gene
chr3:138,944,224-138,947,140
(GRCh38/hg38)
Size:
2,917 bases
Orientation:
Minus strand
chr3:138,663,066-138,665,982
(GRCh37/hg19)

Genomic View for FOXL2 Gene

Genes around FOXL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXL2 Gene

Proteins for FOXL2 Gene

  • Protein details for FOXL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58012-FOXL2_HUMAN
    Recommended name:
    Forkhead box protein L2
    Protein Accession:
    P58012
    Secondary Accessions:
    • Q4ZGJ3

    Protein attributes for FOXL2 Gene

    Size:
    376 amino acids
    Molecular mass:
    38772 Da
    Quaternary structure:
    • Interacts with ESR1 (By similarity). Interacts with SMAD3 (By similarity). Interacts with DDX20. Interacts with UBE2I/UBC9.

neXtProt entry for FOXL2 Gene

Post-translational modifications for FOXL2 Gene

  • Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity.

Other Protein References for FOXL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXL2 Gene

Domains & Families for FOXL2 Gene

Gene Families for FOXL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOXL2: view

No data available for UniProtKB/Swiss-Prot for FOXL2 Gene

Function for FOXL2 Gene

Molecular function for FOXL2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and heat-shock conditions. Down-regulated by SIRT1.

Phenotypes From GWAS Catalog for FOXL2 Gene

Gene Ontology (GO) - Molecular Function for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding TAS 11175783
GO:0003700 DNA binding transcription factor activity NAS 11175783
genes like me logo Genes that share ontologies with FOXL2: view
genes like me logo Genes that share phenotypes with FOXL2: view

Human Phenotype Ontology for FOXL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXL2 Gene

MGI Knock Outs for FOXL2:
Targeted motifs for FOXL2 Gene
HOMER Transcription Factor Regulatory Elements motif FOXL2
  • Consensus sequence: WWTRTAAACAVG Submotif: canonical Cell Type: Ovary GEO ID: GSE60858
  • Consensus sequence: NATGASTCABNN Submotif: canonical Cell Type: 3T3L1 GEO ID: GSE56872

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for FOXL2 Gene

Localization for FOXL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXL2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12471206
GO:0005654 nucleoplasm TAS --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with FOXL2: view

Pathways & Interactions for FOXL2 Gene

SuperPathways for FOXL2 Gene

No Data Available

SIGNOR curated interactions for FOXL2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001541 ovarian follicle development IEA,ISS --
GO:0001555 oocyte growth IEA --
GO:0002074 extraocular skeletal muscle development IMP 12630957
GO:0006309 apoptotic DNA fragmentation IMP 16153597
genes like me logo Genes that share ontologies with FOXL2: view

No data available for Pathways by source for FOXL2 Gene

Drugs & Compounds for FOXL2 Gene

(1) Drugs for FOXL2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FOXL2: view

Transcripts for FOXL2 Gene

mRNA/cDNA for FOXL2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXL2 Gene

Forkhead box L2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXL2 Gene

No ASD Table

Relevant External Links for FOXL2 Gene

GeneLoc Exon Structure for
FOXL2
ECgene alternative splicing isoforms for
FOXL2

Expression for FOXL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXL2 Gene

This gene is overexpressed in Ovary (x23.1), Cervix - Endocervix (x6.3), Fallopian Tube (x4.9), Pituitary (x4.5), and Uterus (x4.5).

Protein differential expression in normal tissues from HIPED for FOXL2 Gene

This gene is overexpressed in Platelet (61.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FOXL2 Gene



Protein tissue co-expression partners for FOXL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOXL2 Gene:

FOXL2

SOURCE GeneReport for Unigene cluster for FOXL2 Gene:

Hs.289292

mRNA Expression by UniProt/SwissProt for FOXL2 Gene:

P58012-FOXL2_HUMAN
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.

Evidence on tissue expression from TISSUES for FOXL2 Gene

  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXL2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • mouth
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with FOXL2: view

Orthologs for FOXL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FOXL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXL2 34 33
  • 99.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FOXL2 33 34
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Foxl2 33
  • 89.78 (n)
dog
(Canis familiaris)
Mammalia FOXL2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxl2 34 16 33
  • 88.26 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXL2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXL2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXL2 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 21 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii LOC100149117 33
  • 74.36 (n)
FOXL2 34
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta croc 34
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCM1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for FOXL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOXL2 Gene

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

Paralogs for FOXL2 Gene

genes like me logo Genes that share paralogs with FOXL2: view

Variants for FOXL2 Gene

Sequence variations from dbSNP and Humsavar for FOXL2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs104893737 pathogenic, Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 138,946,566(-) G/A coding_sequence_variant, stop_gained
rs104893738 pathogenic, Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1, Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 138,945,901(-) G/C coding_sequence_variant, stop_gained
rs104893739 pathogenic, Blepharophimosis, ptosis, and epicanthus inversus 138,946,137(-) G/A coding_sequence_variant, stop_gained
rs104893741 pathogenic, Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1, Blepharophimosis, ptosis, and epicanthus inversus 138,946,068(-) G/A coding_sequence_variant, stop_gained
rs1057516139 pathogenic, Blepharophimosis, ptosis, and epicanthus inversus 138,946,708(-) G/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for FOXL2 Gene

Variant ID Type Subtype PubMed ID
dgv4908n100 CNV gain 25217958
nsv591854 CNV gain 21841781

Variation tolerance for FOXL2 Gene

Gene Damage Index Score: 7.05; 80.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXL2 Gene

Human Gene Mutation Database (HGMD)
FOXL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXL2 Gene

Disorders for FOXL2 Gene

MalaCards: The human disease database

(30) MalaCards diseases for FOXL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FOXL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXL2_HUMAN
  • 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. {ECO:0000269 PubMed:11175783, ECO:0000269 PubMed:11468277, ECO:0000269 PubMed:12400065, ECO:0000269 PubMed:12529855, ECO:0000269 PubMed:12630957, ECO:0000269 PubMed:12938087, ECO:0000269 PubMed:15257268, ECO:0000269 PubMed:16454982, ECO:0000269 PubMed:17089161, ECO:0000269 PubMed:18372316, ECO:0000269 PubMed:18484667, ECO:0000269 PubMed:18642388, ECO:0000269 Ref.2}. 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. {ECO:0000269 PubMed:12149404, ECO:0000269 PubMed:19429596}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FOXL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FOXL2: view

No data available for Genatlas for FOXL2 Gene

Publications for FOXL2 Gene

  1. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. (PMID: 12938087) Udar N … BPES Consortium (Human mutation 2003) 3 4 22 44 58
  2. Identification of novel mutations in FOXL2 associated with premature ovarian failure. (PMID: 12149404) Harris SE … Shelling AN (Molecular human reproduction 2002) 3 4 22 44 58
  3. Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. (PMID: 20198651) Kim MS … Lee SH (The Journal of pathology 2010) 3 22 44 58
  4. Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure. (PMID: 20222838) Ni F … Cao Y (Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010) 3 22 44 58
  5. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. (PMID: 19010791) Benayoun BA … Veitia RA (Human molecular genetics 2009) 3 4 22 58

Products for FOXL2 Gene

Sources for FOXL2 Gene

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