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Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16734 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu16734C Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_021728.3, 395455068
Length 894 bp
Update Date 20-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.
Product homeobox protein OTX2 isoform a

Summary: This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012].

Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 5 encode the same protein (isoform a).

RefSeq NP_068374.1
CDS 285..1178
Misc Feature(1)162..164
Misc Feature(2)423..590
Misc Feature(3)423..590
Misc Feature(4)order(423..437,441..443,492..494,510..512,549..551,
Misc Feature(5)order(429..431,438..440,558..560,567..572,579..581)
Misc Feature(6)765..1013
Exon (1)1..101
Gene Synonym:CPHD6; MCOPS5
Exon (2)102..165
Gene Synonym:CPHD6; MCOPS5
Exon (3)166..381
Gene Synonym:CPHD6; MCOPS5
Exon (4)382..557
Gene Synonym:CPHD6; MCOPS5
Exon (5)558..2206
Gene Synonym:CPHD6; MCOPS5
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Position Chain Variation Link
complement(88)-c, adbSNP:200705423
complement(97)-t, cdbSNP:138281551
complement(98)-g, adbSNP:185374570
complement(111)-g, adbSNP:150887670
complement(239)-t, cdbSNP:200002729
complement(241)-g, adbSNP:373972732
complement(256)-t, gdbSNP:370535121
complement(348)-t, cdbSNP:200680654
complement(384)-g, adbSNP:371205339
complement(411)-g, cdbSNP:374042850
complement(471)-c, adbSNP:368759331
complement(476)-t, cdbSNP:141664597
complement(548)-t, cdbSNP:376651816
573+c, gdbSNP:104894464
complement(574)-t, cdbSNP:200990681
591+g, tdbSNP:78953717
complement(664)-t, cdbSNP:199799627
696+a, gdbSNP:74658806
complement(705)-t, gdbSNP:376333965
complement(707)-t, gdbSNP:372008404
complement(709)-g, cdbSNP:199761861
complement(727)-g, adbSNP:201721391
complement(728)-g, cdbSNP:147896150
complement(743)-g, adbSNP:34537598
complement(748)-g, c, adbSNP:200171280
complement(761)-t, gdbSNP:373798705
complement(798)-t, adbSNP:370354056
complement(824)-t, cdbSNP:368033398
845+a, tdbSNP:104894465
870+g, tdbSNP:397514463
complement(871)-c, adbSNP:142205965
complement(925)-t, gdbSNP:150982073
complement(947)-g, adbSNP:142743327
complement(948)-t, cdbSNP:374968145
complement(982)-t, cdbSNP:370761964
complement(997)-t, adbSNP:144449264
complement(1023)-g, adbSNP:143131956
complement(1027)-g, adbSNP:199650198
complement(1041)-t, cdbSNP:139800030
complement(1115)-g, adbSNP:78559885
complement(1124)-g, adbSNP:201396096
complement(1180)-t, cdbSNP:370275924
complement(1188)-g, adbSNP:171978
complement(1212)-t, adbSNP:182392988
complement(1219)-t, cdbSNP:3742576
complement(1338)-t, cdbSNP:75947588
complement(1494)-t, cdbSNP:142727455
1518+, cdbSNP:3215889
complement(1565)-c, adbSNP:372333803
complement(1614)-g, cdbSNP:190556214
complement(1669)-t, cdbSNP:369779296
complement(1670..1673)-, caatdbSNP:149455658
complement(1845)-t, gdbSNP:184421963
complement(1855)-g, adbSNP:56245644
complement(1876)-t, adbSNP:58246365
complement(1900)-t, cdbSNP:192422162
complement(1957)-t, cdbSNP:138197536
complement(2000)-t, adbSNP:187055500
complement(2097)-g, cdbSNP:74517617
complement(2098)-t, cdbSNP:80140046
complement(2099)-t, adbSNP:78935901
complement(2144)-t, cdbSNP:57390094
complement(2186)-t, cdbSNP:184224534
Gene SymbolOTX2
Gene SynonymCPHD6; MCOPS5
Locus Map14q22.3
Title Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication .
Author Ballesta-Martinez MJ, Lopez-Gonzalez V, Dulcet LA, Rodriguez-Santiago B, Garcia-Minaur S and Guillen-Navarro E.
Journal Am. J. Med. Genet. A 161A (8), 2030-2035 (2013)
Title Specific expression pattern of a novel Otx2 splicing variant during neural differentiation .
Author Liu Z, Chi L, Fang Y, Liu L and Zhang X.
Journal Gene 523 (1), 33-38 (2013)
Title OTX2 sustains a bivalent-like state of OTX2-bound promoters in medulloblastoma by maintaining their H3K27me3 levels .
Author Bunt J, Hasselt NA, Zwijnenburg DA, Koster J, Versteeg R and Kool M.
Journal Acta Neuropathol. 125 (3), 385-394 (2013)
Title OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells .
Author Bai RY, Staedtke V, Lidov HG, Eberhart CG and Riggins GJ.
Journal Cancer Res. 72 (22), 5988-6001 (2012)
Title Brain development is a multi-level regulated process--the case of the OTX2 gene .
Author Gat-Yablonski G.
Journal Pediatr Endocrinol Rev 9 (1), 422-430 (2011)
Title Elements regulating the transcription of human interstitial retinoid-binding protein (IRBP) gene in cultured retinoblastoma cells .
Author Fong SL and Fong WB.
Journal Curr. Eye Res. 18 (4), 283-291 (1999)
Title OTX2 homeodomain protein binds a DNA element necessary for interphotoreceptor retinoid binding protein gene expression .
Author Bobola N, Briata P, Ilengo C, Rosatto N, Craft C, Corte G and Ravazzolo R.
Journal Mech. Dev. 82 (1-2), 165-169 (1999)
Title Developmental rescue of Drosophila cephalic defects by the human Otx genes .
Author Nagao T, Leuzinger S, Acampora D, Simeone A, Finkelstein R, Reichert H and Furukubo-Tokunaga K.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (7), 3737-3742 (1998)
Title Chromosome locations of human EMX and OTX genes .
Author Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A and Boncinelli E.
Journal Genomics 22 (1), 41-45 (1994)
Title Anophthalmia/Microphthalmia Overview .
Author Bardakjian,T., Weiss,A. and Schneider,A.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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