Forkhead box L2

Forkhead box L2
Identifiers
Symbol(s)	FOXL2; BPES; BPES1; PFRK; PINTO; POF3
External IDs	OMIM: 605597 MGI: 1349428 Homologene: 74992
Gene ontology Molecular Function: • transcription factor activity • protein binding • caspase regulator activity • sequence-specific DNA binding Cellular Component: • nucleus Biological Process: • ovarian follicle development • extraocular skeletal muscle development • DNA fragmentation during apoptosis • transcription • regulation of transcription, DNA-dependent • female somatic sex determination • cell differentiation • menstruation • positive regulation of apoptosis • positive regulation of caspase activity • positive regulation of transcription from RNA polymerase II promoter
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	668	26927
Ensembl	ENSG00000183770	ENSMUSG00000050397
Uniprot	P58012	Q2TVT7
Refseq	XM_001131060 (mRNA) XP_001131060 (protein)	XM_976602 (mRNA) XP_981696 (protein)
Location	Chr 3: 140.15 - 140.15 Mb	Chr 9: 98.77 - 98.77 Mb
Pubmed search	[1]	[2]

Forkhead box L2, also known as FOXL2, is a human gene.

See also

• FOX proteins

Further reading

• de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP (1991). "Further evidence for the location of the BPES gene at 3q2.". J. Med. Genet. 28 (10): 725. PMID 1941972.
• Vaiman D, Schibler L, Oustry-Vaiman A, et al. (1999). "High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue is contained in a human YAC from HSA3q23.". Genomics 56 (1): 31-9. doi:10.1006/geno.1998.5691. PMID 10036183.
• Kaestner KH, Knochel W, Martinez DE (2000). "Unified nomenclature for the winged helix/forkhead transcription factors.". Genes Dev. 14 (2): 142-6. PMID 10702024.
• Crisponi L, Deiana M, Loi A, et al. (2001). "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.". Nat. Genet. 27 (2): 159-66. doi:10.1038/84781. PMID 11175783.
• De Baere E, Dixon MJ, Small KW, et al. (2001). "Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.". Hum. Mol. Genet. 10 (15): 1591-600. PMID 11468277.
• Dollfus H, Kumaramanickavel G, Biswas P, et al. (2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.". J. Med. Genet. 38 (7): 470-2. PMID 11474656.
• Yamada T, Hayasaka S, Matsumoto M, et al. (2002). "Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.". J. Hum. Genet. 46 (12): 733-6. PMID 11776388.
• Kosaki K, Ogata T, Kosaki R, et al. (2002). "A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.". Ophthalmic Genet. 23 (1): 43-7. PMID 11910558.
• Bell R, Murday VA, Patton MA, Jeffery S (2002). "Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.". Genet. Test. 5 (4): 335-8. doi:10.1089/109065701753617499. PMID 11960581.
• Harris SE, Chand AL, Winship IM, et al. (2003). "Identification of novel mutations in FOXL2 associated with premature ovarian failure.". Mol. Hum. Reprod. 8 (8): 729-33. PMID 12149404.
• De Baere E, Lemercier B, Christin-Maitre S, et al. (2002). "FOXL2 mutation screening in a large panel of POF patients and XX males.". J. Med. Genet. 39 (8): e43. PMID 12161610.
• Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, et al. (2003). "Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.". Am. J. Med. Genet. 113 (1): 47-51. doi:10.1002/ajmg.10741. PMID 12400065.
• Cocquet J, Pailhoux E, Jaubert F, et al. (2003). "Evolution and expression of FOXL2.". J. Med. Genet. 39 (12): 916-21. PMID 12471206.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
• De Baere E, Beysen D, Oley C, et al. (2003). "FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.". Am. J. Hum. Genet. 72 (2): 478-87. PMID 12529855.
• Mazumdar A, Kumar R (2003). "Estrogen regulation of Pak1 and FKHR pathways in breast cancer cells.". FEBS Lett. 535 (1-3): 6-10. PMID 12560069.
• Fokstuen S, Antonarakis SE, Blouin JL (2003). "FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.". Am. J. Med. Genet. A 117 (2): 143-6. doi:10.1002/ajmg.a.10024. PMID 12567411.
• Dollfus H, Stoetzel C, Riehm S, et al. (2003). "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.". Clin. Genet. 63 (2): 117-20. PMID 12630957.
• Udar N, Yellore V, Chalukya M, et al. (2003). "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.". Hum. Mutat. 22 (3): 222-8. doi:10.1002/humu.10251. PMID 12938087.
• Crisponi L, Uda M, Deiana M, et al. (2004). "FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.". Genomics 83 (5): 757-64. doi:10.1016/j.ygeno.2003.11.010. PMID 15081106.

External links

• MeSH FOXL2+protein,+human