Pax9 Gene Summary [Mouse]
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | Pax9 |
| Official Name | paired box 9 [Source:MGI Symbol;Acc:MGI:97493] |
| Ensembl ID | ENSMUSG00000001497 |
| Bio databases IDs | |
| Aliases | paired box 9 |
| Synonyms | paired box 9, STHAG3 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pax9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- HTH_ARSR
- 'Paired box' domain
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- HTH_CRP
- Paired Box domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast carcinoma
- prostatic carcinoma
- epithelial cancer
- selective tooth agenesis type 3
- hypodontia
- prostate cancer
- esophageal squamous cell carcinoma
- esophageal squamous cell cancer
- familial hypodontia
- hereditary disorder
phenotypes
- abnormal Reichert's cartilage morphology
- abnormal ameloblast morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal dentin development
- abnormal dentin morphology
- abnormal hypaxial muscle morphology
- abnormal laryngeal cartilage morphology
- abnormal limb development
- abnormal lower incisor morphology
- abnormal mandible morphology
- abnormal molar morphology
- abnormal palatal shelf elevation
- abnormal pharyngeal pouch morphology
- abnormal pterygoid process morphology
- abnormal secondary palate development
- abnormal tendon morphology
- abnormal thyroid cartilage morphology
- abnormal tooth attrition
- abnormal tooth development
- abnormal tooth morphology
- absent Reichert cartilage
- absent alveolar process
- absent enamel
- absent incisors
- absent lower incisors
- absent mandibular coronoid process
- absent maxillary shelf
- absent molars
- absent palatine bone horizontal plate
- absent parathyroid glands
- absent teeth
- absent ultimobranchial body
- arrest of tooth development
- athymia
- cleft secondary palate
- decreased body size
- decreased molar number
- decreased tooth number
- decreased tympanic ring size
- distended abdomen
- failure of tooth eruption
- growth retardation of molars
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- palatal shelves fail to meet at midline
- polydactyly
- polysyndactyly
- postnatal lethality incomplete penetrance
- preaxial polydactyly
- respiratory distress
- small mandible
role in cell
- expression in
- proliferation
- apoptosis
- formation
- transactivation in
- development
- tumorigenicity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pax9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- regulation of odontogenesis
- endoderm development
- cellular response to growth factor stimulus
- anatomical structure development
- odontogenesis
- positive regulation of transcription from RNA polymerase II promoter
- face morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity