Forkhead box L2

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Forkhead box L2
Identifiers
Symbol(s) FOXL2; BPES; BPES1; PFRK; PINTO; POF3
External IDs OMIM: 605597 MGI: 1349428 HomoloGene: 74992
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.[1]


Contents

[edit] See also

[edit] References

  1. ^ Entrez Gene: FOXL2 forkhead box L2.

[edit] 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. 

[edit] External links

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD