PAX9

Paired box 9
Identifiers
Symbols	PAX9 ; STHAG3
External IDs	OMIM: 167416 MGI: 97493 HomoloGene: 31360 GeneCards: PAX9 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • protein binding Cellular component • nucleus Biological process • transcription from RNA polymerase II promoter • endoderm development • odontogenesis • regulation of odontogenesis • negative regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • face morphogenesis • cellular response to growth factor stimulus Sources: Amigo / QuickGO
RNA expression pattern
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: 36.66 – 36.68 Mb	Chr 12: 56.69 – 56.71 Mb
PubMed search

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

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.

Interactions

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

References

1. "Entrez Gene: PAX9 paired box gene 9".
2. Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
3. 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 (Apr 2006). "Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development". Proceedings of the National Academy of Sciences of the United States of America 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 (Oct 2007). "Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer". Proceedings of the National Academy of Sciences of the United States of America 104 (42): 16663–8. doi:10.1073/pnas.0708286104. PMC 2034240. PMID 17925434.
5. Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". The Journal of Biological Chemistry 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.

Further reading

• Kobielak A, Kobielak K, Wiśniewski AS, Mostowska A, Biedziak B, Trzeciak WH (2001). "The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis". Folia Histochemica et Cytobiologica 39 (2): 111–2. PMID 11374781.
• Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E (Jul 2003). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". American Journal of Medical Genetics. Part A 120A (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407.
• Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
• Peters H, Schuster G, Neubüser A, Richter T, Höfler H, Balling R (Jan 1997). "Isolation of the Pax9 cDNA from adult human esophagus". Mammalian Genome 8 (1): 62–4. doi:10.1007/s003359900351. PMID 9021154.
• Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (Jan 2000). "Mutation of PAX9 is associated with oligodontia". Nature Genetics 24 (1): 18–9. doi:10.1038/71634. PMID 10615120.
• Hetzer-Egger C, Schorpp M, Boehm T (Jul 2000). "Evolutionary conservation of gene structures of the Pax1/9 gene family". Biochimica Et Biophysica Acta 1492 (2-3): 517–21. doi:10.1016/s0167-4781(00)00130-5. PMID 10899593.
• Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S (Oct 2001). "Identification of a nonsense mutation in the PAX9 gene in molar oligodontia". European Journal of Human Genetics 9 (10): 743–6. doi:10.1038/sj.ejhg.5200715. PMID 11781684.
• Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI (Apr 2002). "Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia". Human Genetics 110 (4): 371–6. doi:10.1007/s00439-002-0699-1. PMID 11941488.
• Ikegawa S, Mabuchi A, Ogawa M, Ikeda T (Jun 2002). "Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?". Human Genetics 110 (6): 606–8. doi:10.1007/s00439-002-0735-1. PMID 12107448.
• Gerber JK, Richter T, Kremmer E, Adamski J, Höfler H, Balling R, Peters H (Jul 2002). "Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus". The Journal of Pathology 197 (3): 293–7. doi:10.1002/path.1115. PMID 12115874.
• Peck S, Peck L, Kataja M (Dec 2002). "Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields". American Journal of Orthodontics and Dentofacial Orthopedics 122 (6): 657–60. doi:10.1067/mod.2002.129915. PMID 12490878.
• Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". The Journal of Biological Chemistry 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.
• Mostowska A, Kobielak A, Biedziak B, Trzeciak WH (Jun 2003). "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia". European Journal of Oral Sciences 111 (3): 272–6. doi:10.1034/j.1600-0722.2003.00036.x. PMID 12786960.
• Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P (Nov 2003). "A missense mutation in PAX9 in a family with distinct phenotype of oligodontia". European Journal of Human Genetics 11 (11): 866–71. doi:10.1038/sj.ejhg.5201060. PMID 14571272.
• Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN (Feb 2004). "Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans". The Journal of Biological Chemistry 279 (7): 5924–33. doi:10.1074/jbc.M305648200. PMID 14607846.
• Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR (Feb 2004). "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia". Human Genetics 114 (3): 242–9. doi:10.1007/s00439-003-1066-6. PMID 14689302.

External links

• PAX9 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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