PAX9

PAX9
Identifiers
Aliases	PAX9, STHAG3, paired box 9
External IDs	OMIM: 167416 MGI: 97493 HomoloGene: 31360 GeneCards: PAX9
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q13.3 Start 36,657,568 bp[1] End 36,679,362 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 C1|12 24.53 cM Start 56,738,552 bp[2] End 56,759,607 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland oral cavity amniotic fluid oocyte secondary oocyte minor salivary gland thymus bronchial epithelial cell body of tongue superior surface of tongue Top expressed in parotid gland sclerotome external carotid artery esophagus lacrimal gland internal carotid artery footplate pharyngeal pouch submandibular gland condyle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription activator activity, RNA polymerase II-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of odontogenesis multicellular organism development cellular response to growth factor stimulus endoderm development negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription by RNA polymerase II face morphogenesis transcription, DNA-templated positive regulation of transcription by RNA polymerase II odontogenesis animal organ morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5083 18511 Ensembl ENSG00000198807 ENSMUSG00000001497 UniProt P55771 P47242 RefSeq (mRNA) NM_006194 NM_001372076 NM_011041 RefSeq (protein) NP_006185 NP_001359005 NP_035171 Location (UCSC) Chr 14: 36.66 – 36.68 Mb Chr 12: 56.74 – 56.76 Mb PubMed search [3] [4]
Wikidata
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Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene.^[5][6] It is also found in other mammals.^[7]

Expression and function

This gene is a member of the paired box (PAX) family of transcription factors. During mouse embryogenesis Pax9 expression starts from embryonic day 8.5 and becomes more evident by E9.5; at this stage its expression is restricted to the pharyngeal endoderm.^[8][9] Later on, Pax9 is also expressed in the axial skeleton.^[8] Pax9 is required for craniofacial, tooth and limb development,^[7][8] and may more generally involve development of stratified squamous epithelia as well as various organs and skeletal elements.^[5] PAX9 plays a role in the absence of wisdom teeth in some human populations (possibly along with the less well studied AXIN2 and MSX1).^[7]

Clinical significance

This gene was found amplified in lung cancer. The amplification covers three tissue developmental genes - TTF1, NKX2-8, and PAX9.^[10] 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.

Oligodontia

Oligodontia is a genetic disorder caused by the mutation of the PAX9 gene. This disorder results in the congenital absence of 6 or more permanent teeth, with the exception of the third molar.^[11] Also known as selective tooth agenesis (STHAG), it is the most common disorder in regard to human dentition, affecting a little less than one fourth of the population.^[11] The gene PAX9 which can be found on chromosome 14 encodes a group of transcription factors that play an important role in early tooth development.^[12] In humans, a frameshift mutation in the paired domain of PAX9 was discovered in those affected with oligodontia.^[13] Multiple mechanisms are possible by which the mutation may arise. Recently, a study involving the missense mutation of a PAX9 gene suggests that the loss of function due to the absence DNA binding domain is a mechanism that causes oligodontia.^[14] Those who express the PAX9 mutation and develop the disorder continue to have a normal life expectancy. Along with the mutation of the PAX9 gene, MSX1 gene mutations have also shown to affect dental development in fetuses.^[14]

Interactions

PAX9 has been shown to interact with JARID1B.^[15]

References

Further reading

External links

• PAX9+protein,+human at the U.S. 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.