P58012.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Forkhead box protein L2
NCBI Official Synonym Full Names
forkhead box L2
NCBI Protein Information
forkhead box protein L2; forkhead transcription factor FOXL2
UniProt Protein Name
Forkhead box protein L2
UniProt Entry Name
FOXL2_HUMAN
NCBI 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]
UniProt Comments for FOXL2
FOXL2: 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. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen. Is a regulator of CYP19 expression. Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element. Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2. Defects in FOXL2 are a cause of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES); 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). 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.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 3q23
Cellular Component: nucleus
Molecular Function: protein binding; DNA binding; ubiquitin conjugating enzyme binding; sequence-specific DNA binding; caspase regulator activity; estrogen receptor binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; embryonic eye morphogenesis; positive regulation of apoptosis; positive regulation of transcription, DNA-dependent; female somatic sex determination; positive regulation of caspase activity; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; ovarian follicle development; positive regulation of transcription from RNA polymerase II promoter; DNA fragmentation during apoptosis; menstruation; cell differentiation; negative regulation of transcription, DNA-dependent; extraocular skeletal muscle development; granulosa cell differentiation
Disease: Blepharophimosis, Ptosis, And Epicanthus Inversus; Premature Ovarian Failure 3
Research Articles on FOXL2
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Products associated with anti-FOXL2 antibody
Diseases associated with anti-FOXL2 antibody
Organs/Tissues associated with anti-FOXL2 antibody
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