PAX9 (Paired box gene 9)
2005-08-01 Ewan Robson , Jess Whall , Michael Eccles AffiliationDevelopmental Genetics Group, Department of Pathology, University of Otago, PO Box 913,Dunedin 9015, New Zealand
DNA/RNA
Description
4 exons
Transcription
3 alternative splicing isoforms
Pseudogene
No
Proteins
Description
341 amino acids; 36.3 kDa
Expression
PAX9 is expressed in developing somites, specifically in the posterior ventrolateral region. These cells undergo an epithelial-mesenchymal transition, gaining increased motile capability as a consequence. Subsequent migration of this population generates the lateral sclerotome, which in turn gives rise to the ribs and neural arches. PAX9 contains a DNA binding paired domain, an octapeptide region and a carboxyl-terminal transactivation domain.
Localisation
Nuclear.
Function
PAX9 is a transcription factor that regulates the expression of genes involved in mediating cell proliferation, resistance to apoptosis, and cell migration. Mice homozygous for Pax9 mutations die shortly after birth, lacking the thymus, parathyroid glands and ultimobranchial bodies derived from the third and fourth pharangeal pouches, presenting aberrant head and visceral skeleton development and a complete absence of teeth.
Homology
PAX9 shares homology through the conserved paired box domain with the other members of the nine strong PAX gene family.
Mutations
Germinal
PAX9 mutations are associated with oligodontia.
Implicated in
Entity name
Oligodontia
Disease
Caused by missense and frameshift PAX9 mutations. Patients present normal primary dentition but lack most permanent molars.
Entity name
Jarcho-Levin syndrome
Disease
In humans, a reduction in expression levels of Pax9, together with those of the related Pax1 gene, have been reported in vertebral column chondrocytes of autopsied foeti presenting Jarcho-Levin syndrome, a segmentation anomaly affecting thoracic and vertebral skeletal development. This syndrome shares similarities with the phenotype of the Pax9/Pax1 double mutant mouse.
Entity name
Oesophageal invasive carcinoma and epithelial dysplasia.
Disease
PAX9 expression levels are significantly reduced in oesophageal invasive carcinoma and epithelial dysplasias compared to levels in normal tissue. There is a correlation between decreasing PAX9 expression and increased malignancy of the cancer.
Prognosis
Elevated PAX9 expression may be a useful prognostic marker indicative of favourable outcome in patients presenting oesophageal invasive carcinoma.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12833407 | 2003 | Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. | Bannykh SI et al |
| 9297966 | 1997 | Pax genes and organogenesis. | Dahl E et al |
| 11941488 | 2002 | Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. | Das P et al |
| 12115874 | 2002 | Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus. | Gerber JK et al |
| 15615874 | 2005 | Novel mutation of the initiation codon of PAX9 causes oligodontia. | Klein ML et al |
| 14571272 | 2003 | A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. | Lammi L et al |
| 9732271 | 1998 | Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. | Peters H et al |
| 10556064 | 1999 | Pax1 and Pax9 synergistically regulate vertebral column development. | Peters H et al |
| 12490554 | 2003 | Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. | Rodrigo I et al |
| 10615120 | 2000 | Mutation of PAX9 is associated with oligodontia. | Stockton DW et al |
| 1672661 | 1991 | The paired box encodes a second DNA-binding domain in the paired homeo domain protein. | Treisman J et al |
Other Information
Locus ID:
NCBI: 5083
MIM: 167416
HGNC: 8623
Ensembl: ENSG00000198807
Variants:
dbSNP: 5083
ClinVar: 5083
TCGA: ENSG00000198807
COSMIC: PAX9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198807 | ENST00000361487 | P55771 |
| ENSG00000198807 | ENST00000361487 | Q2L4T1 |
| ENSG00000198807 | ENST00000402703 | P55771 |
| ENSG00000198807 | ENST00000402703 | Q2L4T1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35596231 | 2023 | Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia. | 3 |
| 36374296 | 2023 | An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis. | 0 |
| 36702222 | 2023 | An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets. | 0 |
| 36995881 | 2023 | Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants. | 1 |
| 37005710 | 2023 | PAX9 mutations and genetic synergism in familial tooth agenesis. | 4 |
| 37184613 | 2023 | The phenotype and genotype of PAX9 mutations causing tooth agenesis. | 1 |
| 38140866 | 2023 | [miR-181b-5p promotes cell proliferation and induces apoptosis in human acute myeloid leukemia by targeting PAX9]. | 0 |
| 35596231 | 2023 | Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia. | 3 |
| 36374296 | 2023 | An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis. | 0 |
| 36702222 | 2023 | An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets. | 0 |
| 36995881 | 2023 | Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants. | 1 |
| 37005710 | 2023 | PAX9 mutations and genetic synergism in familial tooth agenesis. | 4 |
| 37184613 | 2023 | The phenotype and genotype of PAX9 mutations causing tooth agenesis. | 1 |
| 38140866 | 2023 | [miR-181b-5p promotes cell proliferation and induces apoptosis in human acute myeloid leukemia by targeting PAX9]. | 0 |
| 34931758 | 2022 | PAX9 functions as a tumor suppressor gene for cervical cancer via modulating cell proliferation and apoptosis. | 2 |
Citation
Ewan Robson ; Jess Whall ; Michael Eccles
PAX9 (Paired box gene 9)
Atlas Genet Cytogenet Oncol Haematol. 2005-08-01
Online version: http://atlasgeneticsoncology.org/gene/41644/pax9
