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Aliases for FOXL2 Gene

Aliases for FOXL2 Gene

  • Forkhead Box L2 2 3
  • BPES1 3 6
  • PFRK 3 6
  • POF3 3 6
  • BPES 3 6
  • Forkhead Transcription Factor FOXL2 3
  • Forkhead Box Protein L2 3
  • PINTO 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. 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 premature ovarian failure 3 and blepharophimosis, epicanthus inversus, and ptosis, type 1. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXE3.

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

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

Genomics for FOXL2 Gene

Regulatory Elements for FOXL2 Gene

Genomic Location for FOXL2 Gene

Start:
138,944,224 bp from pter
End:
138,947,140 bp from pter
Size:
2,917 bases
Orientation:
Minus strand

Genomic View for FOXL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FOXL2 Gene at MOPED

Post-translational modifications for FOXL2 Gene

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

Other Protein References for FOXL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXL2 Gene

Domains for FOXL2 Gene

Gene Families for FOXL2 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXL2 Gene

Graphical View of Domain Structure for InterPro Entry

P58012

UniProtKB/Swiss-Prot:

FOXL2_HUMAN :
  • P58012
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXL2: view

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.

Gene Ontology (GO) - Molecular Function for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0003677 DNA binding TAS 11175783
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 11175783
GO:0005515 protein binding IPI 16153597
GO:0030331 estrogen receptor binding IEA --
genes like me logo Genes that share ontologies with FOXL2: view
genes like me logo Genes that share phenotypes with FOXL2: view

Animal Models for FOXL2 Gene

MGI Knock Outs for FOXL2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FOXL2 Gene

Localization for FOXL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXL2 Gene COMPARTMENTS Subcellular localization image for FOXL2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12471206
genes like me logo Genes that share ontologies with FOXL2: view

Pathways for FOXL2 Gene

SuperPathways for FOXL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001541 ovarian follicle development ISS --
GO:0002074 extraocular skeletal muscle development IMP 12630957
GO:0006309 apoptotic DNA fragmentation IMP 16153597
GO:0006351 transcription, DNA-templated --
genes like me logo Genes that share ontologies with FOXL2: view

No data available for Pathways by source for FOXL2 Gene

Compounds for FOXL2 Gene

(1) Novoseek inferred chemical compound relationships for FOXL2 Gene

Compound -log(P) Hits PubMed IDs
alanine 61.5 21
genes like me logo Genes that share compounds with FOXL2: view

Transcripts for FOXL2 Gene

mRNA/cDNA for FOXL2 Gene

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

Unigene Clusters for FOXL2 Gene

Forkhead box L2:
Representative Sequences:

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 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 (23.1), Cervix - Endocervix (6.3), Fallopian Tube (4.9), Pituitary (4.5), and Uterus (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FOXL2 Gene

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
genes like me logo Genes that share expressions 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 35
  • 99.47 (n)
  • 99.73 (a)
FOXL2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXL2 35
  • 90.78 (n)
  • 95.48 (a)
FOXL2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXL2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxl2 35
  • 88.26 (n)
  • 94.62 (a)
Foxl2 16
Foxl2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXL2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXL2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxl2 35
  • 89.78 (n)
  • 95.7 (a)
chicken
(Gallus gallus)
Aves FOXL2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 21 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii FOXL2 36
  • 71 (a)
OneToOne
LOC100149117 35
  • 74.36 (n)
  • 77.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta croc 36
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HCM1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for FOXL2:
  • 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 Sequence Context AA Info Type MAF
VAR_015181 Premature ovarian failure 3 (POF3)
VAR_015182 -
VAR_016883 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
VAR_016885 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
VAR_016886 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)

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

Variant ID Type Subtype PubMed ID
dgv5263n71 CNV Loss 21882294
nsv877542 CNV Loss 21882294

Relevant External Links for FOXL2 Gene

HapMap Linkage Disequilibrium report
FOXL2
Human Gene Mutation Database (HGMD)
FOXL2
Locus Specific Mutation Databases (LSDB)
FOXL2

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

Disorders for FOXL2 Gene

(2) OMIM Diseases for FOXL2 Gene (605597)

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: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.

(9) Novoseek inferred disease relationships for FOXL2 Gene

Disease -log(P) Hits PubMed IDs
blepharophimosis 96.9 33
ovarian failure premature 95.3 33
epicanthus 95.1 15
ovarian dysfunction 81.8 10
developmental disabilities 64.5 3

Relevant External Links for FOXL2

GeneTests
FOXL2
GeneReviews
FOXL2
Genetic Association Database (GAD)
FOXL2
Human Genome Epidemiology (HuGE) Navigator
FOXL2
genes like me logo Genes that share disorders with FOXL2: view

Publications for FOXL2 Gene

  1. Identification of novel mutations in FOXL2 associated with premature ovarian failure. (PMID: 12149404) Harris S.E. … Shelling A.N. (Mol. Hum. Reprod. 2002) 3 4 23 48
  2. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. (PMID: 12938087) Udar N. … Small K. (Hum. Mutat. 2003) 3 4 23 48
  3. Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure. (PMID: 15181179) Bodega B. … Marozzi A. (Mol. Hum. Reprod. 2004) 3 23 48
  4. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). (PMID: 15257268) Kumar A. … Venkatesh C.P. (Mol. Vis. 2004) 3 4 23
  5. The human FOXL2 mutation database. (PMID: 15300845) Beysen D. … De Baere E. (Hum. Mutat. 2004) 3 4 23

Products for FOXL2 Gene

Sources for FOXL2 Gene

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