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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_021728 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_021728.3, 395455068
Length 2219 bp
Structure linear
Update Date 26-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.
Product homeobox protein OTX2 isoform a
Comment

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)<816..1013
Exon (1)1..101
Gene:OTX2
Gene Synonym:CPHD6; MCOPS5
Exon (2)102..165
Gene:OTX2
Gene Synonym:CPHD6; MCOPS5
Exon (3)166..381
Gene:OTX2
Gene Synonym:CPHD6; MCOPS5
Exon (4)382..557
Gene:OTX2
Gene Synonym:CPHD6; MCOPS5
Exon (5)558..2206
Gene:OTX2
Gene Synonym:CPHD6; MCOPS5
Translation MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPGPWASCPAATPRKQRRERTTFTRAQLDV LEALFAKTRYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAK KKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQ RSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLN QSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
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Position Chain Variation Link
complement(88)-dbSNP:
complement(88)-c, adbSNP:200705423
complement(97)-t, cdbSNP:138281551
complement(98)-g, adbSNP:185374570
complement(111)-dbSNP:
complement(111)-g, adbSNP:150887670
complement(239)-dbSNP:
complement(239)-t, cdbSNP:200002729
complement(348)-t, cdbSNP:200680654
complement(476)-t, cdbSNP:141664597
complement(573)-dbSNP:
complement(573)-g, cdbSNP:104894464
complement(574)-t, cdbSNP:200990681
complement(591)-t, gdbSNP:78953717
complement(664)-t, cdbSNP:199799627
complement(696)-g, adbSNP:74658806
complement(709)-g, cdbSNP:199761861
complement(727)-g, adbSNP:201721391
complement(728)-g, cdbSNP:147896150
complement(743)-g, adbSNP:34537598
complement(748)-g, cdbSNP:200171280
complement(845)-t, adbSNP:104894465
complement(871)-c, adbSNP:142205965
complement(925)-t, gdbSNP:150982073
complement(947)-g, adbSNP:142743327
complement(964)-c, adbSNP:148469976
complement(997)-t, adbSNP:144449264
complement(1023)-g, adbSNP:143131956
complement(1027)-g, adbSNP:199650198
complement(1041)-t, cdbSNP:139800030
complement(1081)-t, gdbSNP:145979039
complement(1115)-g, adbSNP:78559885
complement(1124)-g, adbSNP:201396096
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
complement(1518)-, cdbSNP:3215889
complement(1519)-, gdbSNP:74993436
complement(1614)-g, cdbSNP:190556214
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
Chromosome14
Locus Map14q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001270523 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 3, mRNA. On-demand $449.00 14
NM_001270524 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 4, mRNA. On-demand $449.00 14
NM_001270525 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 5, mRNA. In-stock $348.00 $299.00 10
NM_021728 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. In-stock $348.00 $299.00 10
NM_172337 Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 2, mRNA. On-demand $449.00 14
Title OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells .
Author Bai,R.Y., Staedtke,V., Lidov,H.G., Eberhart,C.G. and Riggins,G.J.
Journal Cancer Res. 72 (22), 5988-6001 (2012)
Title A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve .
Author Gorbenko Del Blanco,D., Romero,C.J., Diaczok,D., de Graaff,L.C., Radovick,S. and Hokken-Koelega,A.C.
Journal Eur. J. Endocrinol. 167 (3), 441-452 (2012)
Title OTX2 mutations contribute to the otocephaly-dysgnathia complex .
Author Chassaing,N., Sorrentino,S., Davis,E.E., Martin-Coignard,D., Iacovelli,A., Paznekas,W., Webb,B.D., Faye-Petersen,O., Encha-Razavi,F., Lequeux,L., Vigouroux,A., Yesilyurt,A., Boyadjiev,S.A., Kayserili,H., Loget,P., Carles,D., Sergi,C., Puvabanditsin,S., Chen,C.P., Etchevers,H.C., Katsanis,N., Mercer,C.L., Calvas,P. and Jabs,E.W.
Journal J. Med. Genet. 49 (6), 373-379 (2012)
Title MiR-206 regulates neural cells proliferation and apoptosis via Otx2 .
Author Wang,R., Hu,Y., Song,G., Hao,C.J., Cui,Y., Xia,H.F. and Ma,X.
Journal Cell. Physiol. Biochem. 29 (3-4), 381-390 (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 OTX2 directly interacts with LIM1 and HNF-3beta .
Author Nakano,T., Murata,T., Matsuo,I. and Aizawa,S.
Journal Biochem. Biophys. Res. Commun. 267 (1), 64-70 (2000)
Title Elements regulating the transcription of human interstitial retinoid-binding protein (IRBP) gene in cultured retinoblastoma cells .
Author Fong,S.L. and Fong,W.B.
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)


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