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Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127612 Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_001127612.1, 189083680
Length 6883 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.
Product paired box protein Pax-6 isoform a
Comment

Summary: This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].


Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 6 and 7 encode the same isoform (a).


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

RefSeq NP_001121084.1
CDS 470..1738
Misc Feature(1)353..355
Misc Feature(2)353..355
Misc Feature(3)479..853
Misc Feature(4)479..853
Misc Feature(5)482..862
Misc Feature(6)order(494..499,512..514,518..526,530..532,545..547,
Misc Feature(7)1109..1276
Misc Feature(8)order(1109..1114,1118..1120,1169..1171,1187..1189,
Misc Feature(9)order(1115..1117,1235..1237,1244..1249,1256..1258)
Exon (1)1..153
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (2)154..341
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (3)342..418
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (4)419..479
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (5)480..610
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (6)611..826
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (7)827..992
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (8)993..1151
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (9)1152..1234
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (10)1235..1385
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (11)1386..1501
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (12)1502..1652
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Exon (13)1653..6880
Gene:PAX6
Gene Synonym:AN; AN2; D11S812E; MGDA; WAGR
Translation MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR LQ
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Position Chain Variation Link
complement(290)-dbSNP:
complement(290)-t, cdbSNP:75563367
complement(323)-t, cdbSNP:192375760
complement(357)-t, adbSNP:188423337
complement(363)-g, adbSNP:111270711
complement(545)-g, cdbSNP:121907913
complement(599)-t, gdbSNP:141873759
complement(605)-g, cdbSNP:78692805
complement(660)-t, gdbSNP:121907920
complement(671)-t, cdbSNP:121907923
complement(776)-t, cdbSNP:121907914
complement(796)-t, cdbSNP:114384476
complement(803)-g, adbSNP:112203531
complement(826)-c, adbSNP:121907928
complement(846)-dbSNP:
complement(846)-t, adbSNP:121907919
complement(851)-t, cdbSNP:121907918
complement(865)-g, adbSNP:146769256
complement(875)-t, cdbSNP:121907912
complement(889)-t, cdbSNP:1800427
complement(892)-g, cdbSNP:139803630
complement(897)-t, cdbSNP:201983312
complement(928)-g, adbSNP:201200280
complement(965)-t, adbSNP:141021880
complement(969)-g, adbSNP:151086737
complement(1010)-dbSNP:
complement(1010)-t, cdbSNP:138803897
complement(1030)-g, cdbSNP:200080139
complement(1057)-t, cdbSNP:3026383
complement(1076)-t, cdbSNP:121907916
complement(1082)-t, cdbSNP:121907924
complement(1180)-dbSNP:
complement(1180)-t, cdbSNP:145329506
complement(1187)-t, cdbSNP:121907917
complement(1189)-t, cdbSNP:200916868
complement(1194)-g, cdbSNP:121907927
complement(1240)-g, adbSNP:121907929
complement(1242)-t, cdbSNP:121907925
complement(1268)-t, cdbSNP:201846044
complement(1269)-c, adbSNP:199610944
complement(1273)-t, cdbSNP:200764930
complement(1277)-t, cdbSNP:201439078
complement(1300)-t, cdbSNP:149053004
complement(1327)-g, adbSNP:200631911
complement(1336)-g, adbSNP:202154006
complement(1384)-t, cdbSNP:146433004
complement(1405)-dbSNP:
complement(1405)-g, adbSNP:115833025
complement(1419)-t, cdbSNP:75572362
complement(1426)-g, adbSNP:184589894
complement(1450)-g, adbSNP:139416026
complement(1459)-t, cdbSNP:146261351
complement(1527)-dbSNP:
complement(1527)-g, cdbSNP:121907915
complement(1554)-, gdbSNP:34615233
complement(1564)-g, adbSNP:200959420
complement(1587)-g, cdbSNP:201690439
complement(1593)-t, gdbSNP:200015827
complement(1606)-t, gdbSNP:143477661
complement(1640)-g, adbSNP:121907926
complement(1663)-dbSNP:
complement(1663)-g, adbSNP:78290542
complement(1732)-t, gdbSNP:35727210
complement(1737)-t, adbSNP:121907922
complement(1771)-t, adbSNP:186495466
complement(1842)-t, gdbSNP:201999673
complement(2030)-t, gdbSNP:150518775
complement(2094..2095)-, adbSNP:11407950
complement(2094)-, adbSNP:200391530
complement(2155)-g, adbSNP:55756603
complement(2341)-g, adbSNP:3026394
complement(2379)-t, cdbSNP:181456283
complement(2521)-t, cdbSNP:189275679
complement(2580)-t, cdbSNP:115045926
complement(2615)-t, cdbSNP:185996251
complement(2801)-t, cdbSNP:117590302
complement(2806)-g, adbSNP:11827725
complement(2922)-t, adbSNP:1506
complement(3174)-t, cdbSNP:138035131
complement(3216)-g, adbSNP:181818313
complement(3342)-t, adbSNP:189545730
complement(3355)-g, adbSNP:185022053
complement(3517)-g, adbSNP:3026395
complement(3524)-t, cdbSNP:192091385
complement(3676)-t, cdbSNP:189220045
complement(3897)-c, adbSNP:3026396
complement(3898)-t, cdbSNP:12421026
complement(3976)-c, adbSNP:73477658
complement(4043)-t, cdbSNP:73477656
complement(4150)-t, cdbSNP:662702
complement(4154)-c, adbSNP:79739975
complement(4244)-t, cdbSNP:3026397
complement(4297)-t, cdbSNP:141344418
complement(4435)-t, adbSNP:138881442
complement(4445)-t, cdbSNP:3026398
complement(4516)-g, adbSNP:184858724
complement(4620)-g, adbSNP:143185259
complement(4628)-t, adbSNP:111506276
complement(4629)-t, adbSNP:111584109
complement(4630..4631)-, aaatdbSNP:10623053
complement(4630)-t, adbSNP:112863817
complement(4633..4634)-, aaatdbSNP:34517568
complement(4634..4635)-, aaatdbSNP:113936346
complement(4715)-t, gdbSNP:192709453
complement(4723)-g, adbSNP:3026399
complement(4817)-t, cdbSNP:145696496
complement(4906)-g, adbSNP:187705792
complement(4940)-g, adbSNP:608293
complement(4947)-g, adbSNP:182664507
complement(4982)-t, adbSNP:200326314
complement(4983..4984)-, aaaadbSNP:34919147
complement(4983)-g, adbSNP:202143838
complement(4985..4986)-, aaaadbSNP:111704084
complement(4985)-t, adbSNP:3026400
complement(4986..4987)-, ataa, aaaadbSNP:138907979
complement(5166)-g, adbSNP:191399467
complement(5408)-g, adbSNP:149777109
complement(5474..5475)-, tgdbSNP:141022497
complement(5620)-g, adbSNP:187714007
complement(5623)-c, adbSNP:183433948
complement(5696)-g, adbSNP:3026401
complement(5704)-g, adbSNP:190491652
complement(5799)-t, cdbSNP:200059324
complement(6034)-g, cdbSNP:16922475
complement(6035)-g, adbSNP:186769968
complement(6108)-g, cdbSNP:183115097
complement(6325)-g, adbSNP:191251943
complement(6337)-c, adbSNP:185968715
complement(6365)-t, gdbSNP:140971065
complement(6434)-g, cdbSNP:180780893
complement(6525..6526)-, tdbSNP:35674517
complement(6580)-g, adbSNP:188417347
complement(6846)-t, cdbSNP:146579778
Gene SymbolPAX6
Gene SynonymAN; AN2; D11S812E; MGDA; WAGR
Chromosome11
Locus Map11p13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000280 Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA. On-demand $699.00 18
NM_001127612 Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. On-demand $699.00 18
NM_001258462 Homo sapiens paired box 6 (PAX6), transcript variant 4, mRNA. On-demand $699.00 18
NM_001258463 Homo sapiens paired box 6 (PAX6), transcript variant 5, mRNA. On-demand $699.00 18
NM_001258464 Homo sapiens paired box 6 (PAX6), transcript variant 6, mRNA. On-demand $699.00 18
NM_001258465 Homo sapiens paired box 6 (PAX6), transcript variant 7, mRNA. On-demand $699.00 18
NM_001604 Homo sapiens paired box 6 (PAX6), transcript variant 2, mRNA. On-demand $699.00 18
Title Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia .
Author Saffra,N., Agarwal,S., Chiang,J.P., Masini,R. and Bertolucci,A.
Journal Arch. Ophthalmol. 130 (10), 1324-1327 (2012)
Title PAX6 mutations identified in 4 of 35 families with microcornea .
Author Wang,P., Sun,W., Li,S., Xiao,X., Guo,X. and Zhang,Q.
Journal Invest. Ophthalmol. Vis. Sci. 53 (10), 6338-6342 (2012)
Title Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese .
Author Dai,L., Li,Y., Du,C.Y., Gong,L.M., Han,C.C., Li,X.G., Fan,P. and Fu,S.B.
Journal Ophthalmic Genet. 33 (3), 171-178 (2012)
Title Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China .
Author Kang,Y., Lin,Y., Li,X., Wu,Q., Huang,L., Li,Q. and Hu,Q.
Journal Mol. Vis. 18, 1750-1754 (2012)
Title Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator .
Author Osumi,N., Shinohara,H., Numayama-Tsuruta,K. and Maekawa,M.
Journal Stem Cells 26 (7), 1663-1672 (2008)
Title Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies .
Author Azuma,N., Yamaguchi,Y., Handa,H., Hayakawa,M., Kanai,A. and Yamada,M.
Journal Am. J. Hum. Genet. 65 (3), 656-663 (1999)
Title PAX6 mutations reviewed .
Author Prosser,J. and van Heyningen,V.
Journal Hum. Mutat. 11 (2), 93-108 (1998)
Title Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene .
Author Glaser,T., Walton,D.S. and Maas,R.L.
Journal Nat. Genet. 2 (3), 232-239 (1992)
Title The human PAX6 gene is mutated in two patients with aniridia .
Author Jordan,T., Hanson,I., Zaletayev,D., Hodgson,S., Prosser,J., Seawright,A., Hastie,N. and van Heyningen,V.
Journal Nat. Genet. 1 (5), 328-332 (1992)
Title Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region .
Author Ton,C.C., Hirvonen,H., Miwa,H., Weil,M.M., Monaghan,P., Jordan,T., van Heyningen,V., Hastie,N.D., Meijers-Heijboer,H., Drechsler,M. et al.
Journal Cell 67 (6), 1059-1074 (1991)


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