PAX4 Gene Summary [Human]
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. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PAX4 |
| Official Name | paired box 4 [Source:HGNC Symbol;Acc:HGNC:8618] |
| Ensembl ID | ENSG00000106331 |
| Bio databases IDs | |
| Aliases | paired box 4 |
| Synonyms | KPD, MODY9, paired box 4, PAX4 (MODY9) |
| Species | Human, Homo sapiens |
| 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 human 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 human 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 human 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