Aliases for FOXL2 Gene
External Ids for FOXL2 Gene
Previous HGNC Symbols for FOXL2 Gene
Previous GeneCards Identifiers 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]
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 transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is FOXD2.
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.