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Homo sapiens forkhead box L2 (FOXL2), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_023067 Homo sapiens forkhead box L2 (FOXL2), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_023067.3, 239735513
Length 2917 bp
Structure linear
Update Date 31-MAR-2013
Organism Homo sapiens (human)
Definition Homo sapiens forkhead box L2 (FOXL2), mRNA.
Product forkhead box protein L2
Comment

Summary: 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. Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jun 2009].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_075555.1
CDS 419..1549
Misc Feature(1)317..319
Misc Feature(2)578..811
Misc Feature(3)578..811
Misc Feature(4)order(686..691,716..718,725..730,788..790)
Misc Feature(5)1205..1207
Exon (1)1..2917
Gene:FOXL2
Gene Synonym:BPES; BPES1; PFRK; PINTO; POF3
Translation MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYV ALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGG GERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAG AGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLH AAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSY WDHDSKTGALHSRLDL
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Position Chain Variation Link
complement(78)-dbSNP:
complement(78)-t, cdbSNP:192325010
complement(168)-t, cdbSNP:145924266
complement(187)-t, cdbSNP:11924939
complement(378)-t, cdbSNP:200169078
complement(500)-g, cdbSNP:111967494
complement(544)-g, cdbSNP:187147226
complement(575)-t, cdbSNP:104893737
complement(669)-t, gdbSNP:28937884
complement(672)-g, adbSNP:200435826
complement(713)-t, cdbSNP:121908358
complement(761)-t, cdbSNP:143464338
complement(772)-t, cdbSNP:200719486
complement(919)-g, adbSNP:61750361
complement(954)-g, cdbSNP:7432551
complement(978)-g, adbSNP:121908359
complement(1004)-t, cdbSNP:104893739
complement(1073)-t, cdbSNP:104893741
complement(1188)-g, adbSNP:113777439
complement(1190)-t, adbSNP:28937885
complement(1240)-g, cdbSNP:104893738
complement(1418)-g, cdbSNP:138198451
complement(1447)-c, adbSNP:140230355
complement(1463)-g, cdbSNP:201840174
complement(1471)-g, adbSNP:183837821
complement(1489)-g, adbSNP:146709691
complement(1519)-t, gdbSNP:143272886
complement(1524)-t, gdbSNP:201314625
complement(1525..1526)-, gcdbSNP:36043610
complement(1529)-, gdbSNP:35625854
complement(1561)-t, adbSNP:199498438
complement(1794)-t, cdbSNP:114204440
complement(1831)-g, adbSNP:185607481
complement(2021)-t, cdbSNP:181248112
complement(2066)-g, adbSNP:188432473
complement(2140)-g, adbSNP:115665190
complement(2163)-g, adbSNP:185086382
complement(2168)-t, gdbSNP:180829214
complement(2309)-g, cdbSNP:190825750
complement(2328..2329)-, ttdbSNP:35050049
complement(2328)-t, cdbSNP:79322565
complement(2339..2340)-, tdbSNP:201782101
complement(2420)-g, adbSNP:72976936
complement(2475..2476)-, adbSNP:139209636
complement(2544)-g, cdbSNP:148908196
complement(2753)-t, cdbSNP:185469812
complement(2804)-t, cdbSNP:2291251
complement(2852)-t, adbSNP:76490864
Gene SymbolFOXL2
Gene SynonymBPES; BPES1; PFRK; PINTO; POF3
Chromosome3
Locus Map3q23
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_023067 Homo sapiens forkhead box L2 (FOXL2), mRNA. On-demand TBD TBD
Title The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients .
Author Fan,J., Zhou,Y., Huang,X., Zhang,L., Yao,Y., Song,X., Chen,J., Hu,J., Ge,S., Song,H. and Fan,X.
Journal Hum. Reprod. 27 (11), 3347-3357 (2012)
Title WNT4, RSPO1, and FOXL2 in sex development .
Author Biason-Lauber,A.
Journal Semin. Reprod. Med. 30 (5), 387-395 (2012)
Title Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles .
Author L'Hote,D., Georges,A., Todeschini,A.L., Kim,J.H., Benayoun,B.A., Bae,J. and Veitia,R.A.
Journal Hum. Mol. Genet. 21 (14), 3264-3274 (2012)
Title FOXL2 mutations in granulosa cell tumors occurring in males .
Author Lima,J.F., Jin,L., de Araujo,A.R., Erikson-Johnson,M.R., Oliveira,A.M., Sebo,T.J., Keeney,G.L. and Medeiros,F.
Journal Arch. Pathol. Lab. Med. 136 (7), 825-828 (2012)
Title The transcriptional targets of mutant FOXL2 in granulosa cell tumours .
Author Rosario,R., Araki,H., Print,C.G. and Shelling,A.N.
Journal PLoS ONE 7 (9), E46270 (2012)
Title Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation .
Author De Baere,E., Dixon,M.J., Small,K.W., Jabs,E.W., Leroy,B.P., Devriendt,K., Gillerot,Y., Mortier,G., Meire,F., Van Maldergem,L., Courtens,W., Hjalgrim,H., Huang,S., Liebaers,I., Van Regemorter,N., Touraine,P., Praphanphoj,V., Verloes,A., Udar,N., Yellore,V., Chalukya,M., Yelchits,S., De Paepe,A., Kuttenn,F., Fellous,M., Veitia,R. and Messiaen,L.
Journal Hum. Mol. Genet. 10 (15), 1591-1600 (2001)
Title The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome .
Author Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Amati,P., Bisceglia,L., Zelante,L., Nagaraja,R., Porcu,S., Ristaldi,M.S., Marzella,R., Rocchi,M., Nicolino,M., Lienhardt-Roussie,A., Nivelon,A., Verloes,A., Schlessinger,D., Gasparini,P., Bonneau,D., Cao,A. and Pilia,G.
Journal Nat. Genet. 27 (2), 159-166 (2001)
Title Unified nomenclature for the winged helix/forkhead transcription factors .
Author Kaestner,K.H., Knochel,W. and Martinez,D.E.
Journal Genes Dev. 14 (2), 142-146 (2000)
Title High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue is contained in a human YAC from HSA3q23 .
Author Vaiman,D., Schibler,L., Oustry-Vaiman,A., Pailhoux,E., Goldammer,T., Stevanovic,M., Furet,J.P., Schwerin,M., Cotinot,C., Fellous,M. and Cribiu,E.P.
Journal Genomics 56 (1), 31-39 (1999)
Title Further evidence for the location of the BPES gene at 3q2 .
Author de Die-Smulders,C.E., Engelen,J.J., Donk,J.M. and Fryns,J.P.
Journal J. Med. Genet. 28 (10), 725 (1991)


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