Paired box 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_011041.2
RefSeq (protein) NP_006185 NP_035171.1
Location (UCSC) Chr 14:
37.13 – 37.15 Mb
Chr 12:
57.79 – 57.81 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. PMC 1458632. 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. PMC 2034240. 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

External links

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

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