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Homo sapiens paired box 9 (PAX9), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006194 Homo sapiens paired box 9 (PAX9), mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

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RefSeq Version NM_006194.3, 260656050
Length 3122 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens paired box 9 (PAX9), mRNA.
Product paired box protein Pax-9
Comment

Summary: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq, Jul 2008].


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_006185.1
CDS 727..1752
Misc Feature(1)658..660
Misc Feature(2)742..1119
Misc Feature(3)742..1119
Misc Feature(4)742..1110
Misc Feature(5)order(751..756,769..771,775..783,787..789,802..804,
Misc Feature(6)1228..1293
Exon (1)1..333
Gene:PAX9
Gene Synonym:STHAG3
Exon (2)334..730
Gene:PAX9
Gene Synonym:STHAG3
Exon (3)731..1357
Gene:PAX9
Gene Synonym:STHAG3
Exon (4)1358..1497
Gene:PAX9
Gene Synonym:STHAG3
Exon (5)1498..3107
Gene:PAX9
Gene Synonym:STHAG3
Translation MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARY NETGSILPGAIGGSKPRVTTPTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSV SSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIYSYPSPITAAAAKVPTPPGVP AIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGH GWQHAGGTSLSPHNCDIPASLAFKGMQAAREGSHSVTASAL
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Position Chain Variation Link
8+dbSNP:
8+c, tdbSNP:147254306
16+g, tdbSNP:149623673
83+a, gdbSNP:147293671
99..100+, cdbSNP:138135767
100..101+, cdbSNP:11373281
272+c, gdbSNP:4904155
289+a, tdbSNP:188648745
552+dbSNP:
552+c, gdbSNP:144429269
704+a, gdbSNP:201198716
756+dbSNP:
756+a, gdbSNP:146561842
788+c, tdbSNP:28933970
802+c, tdbSNP:28933972
809+c, gdbSNP:28933971
865+c, tdbSNP:121917720
877+a, gdbSNP:104894469
882+c, tdbSNP:200418409
918+c, tdbSNP:200688741
985+a, tdbSNP:104894468
997+a, gdbSNP:28933373
1066+a, tdbSNP:104894467
1154+a, gdbSNP:139008563
1185+c, gdbSNP:201901512
1237+a, gdbSNP:143020311
1242+a, gdbSNP:61734510
1335+c, tdbSNP:61754301
1349+c, gdbSNP:116676854
1405+dbSNP:
1405+a, cdbSNP:199777734
1410+a, gdbSNP:144333747
1423+c, tdbSNP:200733091
1443+c, tdbSNP:12881240
1444+c, gdbSNP:4904210
1476+g, tdbSNP:200344655
1501+dbSNP:
1501+c, tdbSNP:145974094
1585+a, gdbSNP:201709294
1656+c, gdbSNP:116602527
1675+a, tdbSNP:139883801
1749+a, cdbSNP:12887746
1764+g, tdbSNP:188638197
1812+c, tdbSNP:181408965
1948+c, gdbSNP:186877662
1958+c, tdbSNP:17104962
2011+c, tdbSNP:17104965
2012+c, gdbSNP:112616603
2181+c, tdbSNP:17766200
2258+a, gdbSNP:191674536
2271+g, tdbSNP:113372817
2306+c, gdbSNP:72679753
2542+c, tdbSNP:141899486
2570+c, tdbSNP:11847165
2600+a, gdbSNP:113144849
2653+c, tdbSNP:17104971
2818+a, cdbSNP:200113610
2844+, cdbSNP:201941449
3020+a, tdbSNP:114801240
Gene SymbolPAX9
Gene SynonymSTHAG3
Chromosome14
Locus Map14q13.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006194 Homo sapiens paired box 9 (PAX9), mRNA. On-demand $549.00 14
Title Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations .
Author Lee,W.C., Yamaguchi,T., Watanabe,C., Kawaguchi,A., Takeda,M., Kim,Y.I., Haga,S., Tomoyasu,Y., Ishida,H., Maki,K., Park,S.B. and Kimura,R.
Journal J. Hum. Genet. 57 (10), 654-659 (2012)
Title Association between PAX9 single-nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate .
Author Lee,J.K., Park,J.W., Kim,Y.H. and Baek,S.H.
Journal J Craniofac Surg 23 (5), 1262-1266 (2012)
Title Novel missense mutations in PAX9 causing oligodontia .
Author Liang,J., Song,G., Li,Q. and Bian,Z.
Journal Arch. Oral Biol. 57 (6), 784-789 (2012)
Title Revision of 'A 223-kb de novo deletion of PAX9 in a patient with oligodontia' .
Author Haldeman-Englert,C.R., Biser,A., Zackai,E.H. and Ming,J.E.
Journal J Craniofac Surg 23 (2), E149-E151 (2012)
Title Understanding the implications of the PAX9 gene in tooth development .
Author Arcuri,C., Zito,I., Santini,F., Muzzi,F., Panetta,V. and Squitti,R.
Journal Eur J Paediatr Dent 12 (4), 245-248 (2011)
Title The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis .
Author Kobielak,A., Kobielak,K., Wisniewski,A.S., Mostowska,A., Biedziak,B. and Trzeciak,W.H.
Journal Folia Histochem. Cytobiol. 39 (2), 111-112 (2001)
Title Evolutionary conservation of gene structures of the Pax1/9 gene family .
Author Hetzer-Egger,C., Schorpp,M. and Boehm,T.
Journal Biochim. Biophys. Acta 1492 (2-3), 517-521 (2000)
Title Mutation of PAX9 is associated with oligodontia .
Author Stockton,D.W., Das,P., Goldenberg,M., D'Souza,R.N. and Patel,P.I.
Journal Nat. Genet. 24 (1), 18-19 (2000)
Title Isolation of the Pax9 cDNA from adult human esophagus .
Author Peters,H., Schuster,G., Neubuser,A., Richter,T., Hofler,H. and Balling,R.
Journal Mamm. Genome 8 (1), 62-64 (1997)
Title Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 .
Author Stapleton,P., Weith,A., Urbanek,P., Kozmik,Z. and Busslinger,M.
Journal Nat. Genet. 3 (4), 292-298 (1993)


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