PAX9

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Paired box 9
Identifiers
Symbols PAX9 ; STHAG3
External IDs OMIM167416 MGI97493 HomoloGene31360 GeneCards: PAX9 Gene
RNA expression pattern
PBB GE PAX9 207059 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5083 18511
Ensembl ENSG00000198807 ENSMUSG00000001497
UniProt P55771 P47242
RefSeq (mRNA) NM_006194 NM_011041
RefSeq (protein) NP_006185 NP_035171
Location (UCSC) Chr 14:
37.13 – 37.15 Mb
Chr 12:
56.69 – 56.71 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]

Function[edit]

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[edit]

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.

Interactions[edit]

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

References[edit]

  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[edit]

External links[edit]

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