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Homo sapiens forkhead box E3 (FOXE3), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_012186 Homo sapiens forkhead box E3 (FOXE3), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_012186.2, 111074530
Length 2000 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens forkhead box E3 (FOXE3), mRNA.
Product forkhead box protein E3
Comment

Summary: This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009].

RefSeq NP_036318.1
CDS 245..1204
Misc Feature(1)185..187
Misc Feature(2)455..688
Misc Feature(3)455..688
Misc Feature(4)order(563..568,593..595,602..607,665..667)
Exon (1)1..1981
Gene:FOXE3
Gene Synonym:FKHL12; FREAC8
Translation MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPG RRRRRPLQRGKPPYSYIALIAMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIR HNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSFLRRRKRFKRAELPAHAAAAP GPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCC AAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLS PGEAYLRQPGFASGLERYL
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Position Chain Variation Link
6+dbSNP:
6+, gdbSNP:375106916
73+a, gdbSNP:148499778
120+g, tdbSNP:112907775
155+g, tdbSNP:115705313
164..165+, gdbSNP:137862650
201+c, tdbSNP:188265445
231+a, gdbSNP:181190356
235+a, gdbSNP:12760137
241+g, tdbSNP:12760142
476+a, gdbSNP:377669670
478+a, gdbSNP:201158701
484+c, tdbSNP:146608794
513+g, tdbSNP:371048362
520+c, tdbSNP:143712915
532+c, tdbSNP:375656937
550+c, tdbSNP:376157850
568+c, tdbSNP:370268389
581+c, tdbSNP:140435664
648+a, gdbSNP:372281087
657+a, gdbSNP:373777806
667+a, gdbSNP:145081583
701+c, gdbSNP:367943249
710+a, gdbSNP:202086896
754+c, tdbSNP:34082359
771+c, tdbSNP:201955081
831+c, gdbSNP:281865461
862+c, gdbSNP:189628587
947+c, gdbSNP:112802909
964+a, cdbSNP:80358194
complement(1018)-g, adbSNP:12724260
1102+a, cdbSNP:12724403
1103+a, cdbSNP:12724404
1203+g, tdbSNP:387906793
1276..1281+cctctg, tctctadbSNP:386630974
1276+c, tdbSNP:6666370
1281+a, gdbSNP:2820969
1425+a, cdbSNP:181619150
1627+, adbSNP:148144944
1630+a, cdbSNP:374899294
1633+c, tdbSNP:373095398
1671+c, gdbSNP:74074267
1679..1682+, acttdbSNP:201356601
1719+c, gdbSNP:78460138
1776..1777+, tdbSNP:34173190
1915+c, gdbSNP:186863282
Gene SymbolFOXE3
Gene SynonymFKHL12; FREAC8
Chromosome1
Locus Map1p32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_012186 Homo sapiens forkhead box E3 (FOXE3), mRNA. On-demand TBD TBD
Title An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village .
Author Pantoja-Melendez C, Ali M and Zenteno JC.
Journal Mol. Vis. 19, 1866-1870 (2013)
Title Growth inhibition of human lens epithelial cells by short hairpin .
Author Wang Y, Li W, Wang Y and Huang Y.
Journal Graefes Arch. Clin. Exp. Ophthalmol. 250 (7), 999-1007 (2012)
Title A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly .
Author Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P and Young TL.
Journal Eur. J. Hum. Genet. 19 (3), 293-299 (2011)
Title Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations .
Author Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH and Slavotinek AM.
Journal BMC Med. Genet. 12, 172 (2011)
Title Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia .
Author Bremond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC and Semina EV.
Journal Mol. Vis. 16, 1705-1711 (2010)
Title Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies .
Author Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J and Ragge NK.
Journal Hum. Mutat. 30 (10), 1378-1386 (2009)
Title Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans .
Author Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M and Kantelip B.
Journal Am. J. Hum. Genet. 79 (2), 358-364 (2006)
Title Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts .
Author Semina EV, Brownell I, Mintz-Hittner HA, Murray JC and Jamrich M.
Journal Hum. Mol. Genet. 10 (3), 231-236 (2001)
Title A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle .
Author Blixt A, Mahlapuu M, Aitola M, Pelto-Huikko M, Enerback S and Carlsson P.
Journal Genes Dev. 14 (2), 245-254 (2000)
Title Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12) .
Author Larsson C, Hellqvist M, Pierrou S, White I, Enerback S and Carlsson P.
Journal Genomics 30 (3), 464-469 (1995)

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