Pax4 Gene Summary [Mouse]
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within positive regulation of epithelial cell differentiation. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including central nervous system; dorsal root ganglion; gut; and urinary system. Human ortholog(s) of this gene implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus. Orthologous to human PAX4 (paired box 4). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pax4 |
| Official Name | paired box 4 [Source:MGI Symbol;Acc:MGI:97488] |
| Ensembl ID | ENSMUSG00000029706 |
| Bio databases IDs | |
| Aliases | paired box 4 |
| Synonyms | KPD, MODY9, paired box 4, PAX4 (MODY9) |
| 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 Pax4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- HTH_ARSR
- sequence-specific DNA binding
- HTH_CRP
- DNA binding
- Homeodomain-like domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- 'Paired box' domain
- homeodomain
- transcription factor activity
- Paired Box domain
Pathways
Biological processes and signaling networks where the Pax4 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- cleft palate
- maturity-onset diabetes of the young type 9
- ketosis-prone diabetes mellitus
- monogenic diabetes
- late-onset noninsulin-dependent diabetes mellitus
- hyperglycemia
role in cell
- apoptosis
- proliferation
- expression in
- invasion by
- migration
- quantity
- differentiation
- dysfunction
- re-expression in
- conversion
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
- nuclear fraction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pax4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- anatomical structure development
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity