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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 04-MAY-2014
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(532)-c, adbSNP:369525308
complement(544)-g, cdbSNP:187147226
complement(547)-t, cdbSNP:368729164
575+c, tdbSNP:104893737
623+a, gdbSNP:387906920
complement(661)-g, adbSNP:371946395
669+g, tdbSNP:28937884
complement(672)-g, adbSNP:200435826
713+c, tdbSNP:121908358
complement(761)-t, cdbSNP:143464338
complement(772)-t, cdbSNP:200719486
complement(826)-g, adbSNP:374360876
complement(919)-g, adbSNP:61750361
complement(954)-g, cdbSNP:7432551
978+a, gdbSNP:121908359
1004+c, tdbSNP:104893739
1073+c, tdbSNP:104893741
1102..1116+(agctgcggctgcagc(3))dbSNP:387906322
1119..1120+, agcggctgcagcagctgcggctgcagccgcdbSNP:387906321
complement(1180)-t, cdbSNP:374564346
complement(1188)-g, adbSNP:113777439
1190+a, tdbSNP:28937885
1240+c, gdbSNP:104893738
complement(1276)-c, adbSNP:370950963
complement(1418)-g, cdbSNP:138198451
complement(1432)-g, cdbSNP:375761943
complement(1443)-t, cdbSNP:372479512
complement(1447)-c, adbSNP:140230355
complement(1463)-g, cdbSNP:201840174
complement(1471)-g, adbSNP:183837821
complement(1489)-g, adbSNP:146709691
complement(1498)-g, adbSNP:377175851
complement(1519)-t, gdbSNP:143272886
complement(1524)-t, gdbSNP:201314625
complement(1525..1526)-, gcdbSNP:36043610
complement(1529)-, gdbSNP:35625854
complement(1540)-t, gdbSNP:367789389
complement(1561)-t, adbSNP:199498438
complement(1600)-t, cdbSNP:369818928
complement(1794)-t, cdbSNP:114204440
complement(1831)-g, adbSNP:185607481
complement(1855)-g, adbSNP:374179510
complement(1957)-t, gdbSNP:372084005
complement(2021)-t, cdbSNP:181248112
complement(2066)-g, adbSNP:188432473
complement(2140)-g, adbSNP:115665190
complement(2153)-t, cdbSNP:367850391
complement(2163)-g, adbSNP:185086382
complement(2168)-t, gdbSNP:180829214
complement(2309)-g, cdbSNP:190825750
complement(2316..2317)-, ttdbSNP:35050049
complement(2328..2329)-, tdbSNP:374180333
complement(2328)-t, cdbSNP:79322565
complement(2339..2340)-, tdbSNP:201782101
complement(2420)-g, adbSNP:72976936
complement(2474..2475)-, adbSNP:139209636
2544+c, gdbSNP:148908196
complement(2551)-t, adbSNP:375253939
complement(2753)-t, cdbSNP:185469812
2804+c, tdbSNP: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 FOXL2-induced follistatin attenuates activin A-stimulated cell proliferation in human granulosa cell tumors .
Author Cheng JC, Chang HM, Qiu X, Fang L and Leung PC.
Journal Biochem. Biophys. Res. Commun. 443 (2), 537-542 (2014)
Title Impact of a second opinion using expression and molecular analysis of FOXL2 for sex cord-stromal tumors. A study of the GINECO group & the TMRO network .
Author Maillet D, Goulvent T, Rimokh R, Vacher-Lavenu MC, Pautier P, Alexandre J, Pujade-Laurraine E, Devouassoux-Shisheboran M, Treilleux I, Ray-Coquard I and Savina A.
Journal Gynecol. Oncol. 132 (1), 181-187 (2014)
Title Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome .
Author Zhang L, Wang L, Han R, Guan L, Fan B, Liu M, Ying M, Peng H and Li N.
Journal Mol. Vis. 19, 2298-2305 (2013)
Title Adult granulosa cell tumours (GCT): clinicopathological outcomes including FOXL2 mutational status and expression .
Author Rosario R, Wilson M, Cheng WT, Payne K, Cohen PA, Fong P and Shelling AN.
Journal Gynecol. Oncol. 131 (2), 325-329 (2013)
Title Luteinized thecomas (thecomatosis) associated with sclerosing peritonitis exhibit positive staining with sex cord markers steroidogenic factor-1 (SF-1) and FOXL2 .
Author McCluggage WG, Staats PN, Gilks CB, Clement PB and Young RH.
Journal Am. J. Surg. Pathol. 37 (9), 1458-1459 (2013)
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 MS, 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 KH, Knochel W and Martinez DE.
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 JP, Schwerin M, Cotinot C, Fellous M and Cribiu EP.
Journal Genomics 56 (1), 31-39 (1999)
Title Blepharophimosis, Ptosis, and Epicanthus Inversus .
Author De Baere,E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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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