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Paired box gene 9
Symbols PAX9;
External IDs OMIM167416 MGI97493 HomoloGene31360 GeneCards: PAX9 Gene
RNA expression pattern
PBB GE PAX9 207059 at tn.png
More reference expression data
Species Human Mouse
Entrez 5083 18511
Ensembl ENSG00000198807 ENSMUSG00000001497
UniProt P55771 Q3V1K1
RefSeq (mRNA) NM_006194 NM_011041
RefSeq (protein) NP_006185 NP_035171
Location (UCSC) Chr 14:
36.2 - 36.22 Mb
Chr 12:
57.61 - 57.63 Mb
PubMed search [1] [2]

Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene.[1][2] It is also found in mammals generally.[3]



This gene is a member of the paired box (PAX) family of transcription factors. PAX9 is responsible for tooth development[3] and may more generally involve development of stratified squamous epithelia as well as various organs and skeletal elements.[1] PAX9 plays a role in the absence of wisdom teeth in some human populations (possibly along with the less well studied AXIN2 and MSX1).[3]

Clinical significance

This gene was found amplified in lung cancer. The amplification covers three tissue developmental genes - TTF1, NKX2-8, and PAX9.[4] It appears that certain lung cancer cells select for DNA copy number amplification and increased RNA/protein expression of these three coamplified genes for functional advantages.


PAX9 has been shown to interact with JARID1B.[5]


  1. ^ a b "Entrez Gene: PAX9 paired box gene 9".  
  2. ^ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (April 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.  
  3. ^ a b c Pereira TV, Salzano FM, Mostowska A, Trzeciak WH, Ruiz-Linares A, Chies JA, Saavedra C, Nagamachi C, Hurtado AM, Hill K, Castro-de-Guerra D, Silva-Júnior WA, Bortolini MC (April 2006). "Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development". Proc. Natl. Acad. Sci. U.S.A. 103 (15): 5676–81. doi:10.1073/pnas.0509562103. PMID 16585527.  
  4. ^ Kendall J, Liu Q, Bakleh A, Krasnitz A, Nguyen KC, Lakshmi B, Gerald WL, Powers S, Mu D (October 2007). "Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer". Proc. Natl. Acad. Sci. U.S.A. 104 (42): 16663–8. doi:10.1073/pnas.0708286104. PMID 17925434.  
  5. ^ Tan, Keith; Shaw Anthony L, Madsen Bente, Jensen Kirsten, Taylor-Papadimitriou Joyce, Freemont Paul S (Jun. 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. (United States) 278 (23): 20507–13. doi:10.1074/jbc.M301994200. ISSN 0021-9258. PMID 12657635.  

Further reading

  • Kobielak A, Kobielak K, Wiśniewski AS, et al. (2001). "The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis.". Folia Histochem. Cytobiol. 39 (2): 111–2. PMID 11374781.  
  • Bannykh SI, Emery SC, Gerber JK, et al. (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.". Am. J. Med. Genet. A 120 (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407.  
  • Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.  
  • Peters H, Schuster G, Neubüser A, et al. (1997). "Isolation of the Pax9 cDNA from adult human esophagus.". Mamm. Genome 8 (1): 62–4. doi:10.1007/s003359900351. PMID 9021154.  
  • Stockton DW, Das P, Goldenberg M, et al. (2000). "Mutation of PAX9 is associated with oligodontia.". Nat. Genet. 24 (1): 18–9. doi:10.1038/71634. PMID 10615120.  
  • Hetzer-Egger C, Schorpp M, Boehm T (2000). "Evolutionary conservation of gene structures of the Pax1/9 gene family.". Biochim. Biophys. Acta 1492 (2-3): 517–21. PMID 10899593.  
  • Nieminen P, Arte S, Tanner D, et al. (2002). "Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.". Eur. J. Hum. Genet. 9 (10): 743–6. doi:10.1038/sj.ejhg.5200715. PMID 11781684.  
  • Das P, Stockton DW, Bauer C, et al. (2002). "Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.". Hum. Genet. 110 (4): 371–6. doi:10.1007/s00439-002-0699-1. PMID 11941488.  
  • Ikegawa S, Mabuchi A, Ogawa M, Ikeda T (2002). "Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?". Hum. Genet. 110 (6): 606–8. doi:10.1007/s00439-002-0735-1. PMID 12107448.  
  • Gerber JK, Richter T, Kremmer E, et al. (2002). "Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus.". J. Pathol. 197 (3): 293–7. doi:10.1002/path.1115. PMID 12115874.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Peck S, Peck L, Kataja M (2003). "Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields.". American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 122 (6): 657–60. doi:10.1067/mod.2002.129915. PMID 12490878.  
  • Tan K, Shaw AL, Madsen B, et al. (2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9.". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.  
  • Mostowska A, Kobielak A, Biedziak B, Trzeciak WH (2003). "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia.". Eur. J. Oral Sci. 111 (3): 272–6. doi:10.1034/j.1600-0722.2003.00036.x. PMID 12786960.  
  • Lammi L, Halonen K, Pirinen S, et al. (2004). "A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.". Eur. J. Hum. Genet. 11 (11): 866–71. doi:10.1038/sj.ejhg.5201060. PMID 14571272.  
  • Mensah JK, Ogawa T, Kapadia H, et al. (2004). "Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.". J. Biol. Chem. 279 (7): 5924–33. doi:10.1074/jbc.M305648200. PMID 14607846.  
  • Jumlongras D, Lin JY, Chapra A, et al. (2004). "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.". Hum. Genet. 114 (3): 242–9. doi:10.1007/s00439-003-1066-6. PMID 14689302.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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