Search
forkhead box protein L2; forkhead transcription factor FOXL2; pituitary forkhead factor mouse homolog (FOXL2)
Function: probable transcriptional regulator
Structure: contains 1 fork-head DNA-binding domain
Compartment: nucleus
Expression:
- expressed in developing eyelid
- transcribed very early in somatic cells of the developing gonad (before sex determination)
- expression persists in the follicular cells of the adult ovary
Pathology:
- defects in FOXL2 are a cause of blepharophimosis syndrome
- defects in FOXL2 are a cause of premature ovarian failure 3
- 402C->G point mutation in the FOXL2 gene may be associated with ovarian cancer (adult granulosa-cell tumors) [5]
Genetics:
- mutational hotspot in region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in blepharophimosis syndrome (BPES) type 2
General
forkhead family transcription factor
Properties
SIZE: MW = 39 kD
entity length = 376 aa
COMPARTMENT: cell nucleus
MOTIF: glycine residue {35-43} (9)
fork head domain
NAME: fork head domain
SITE: 54-148
alanine residue {221-234} (14)
proline residue {284-292} (9)
alanine residue {301-304} (4)
Database Correlations
OMIM correlations
MORBIDMAP 605597
UniProt P58012
Entrez Gene 668
References
- UniProt :accession P58012
- Entrez Gene :accession 668
- Human FOXL2 mutation database
http://medgen.ugent.be/LOVD/index.php?select_db=FOXL2
- NAME=GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXL2
- Shah SP et al
Mutation of FOXL2 in granulosa-cell tumors of the ovary.
N Engl J Med 2009 Jun 25; 360:2719.
PMID: 19516027
- Shendure J and Stewart CJ.
Cancer genomes on a shoestring budget.
N Engl J Med 2009 Jun 25; 360:2781.
PMID: 19516026