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 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 FOXC1.
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.