PAX2 Gene Summary [Human]
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | PAX2 |
| Official Name | paired box 2 [Source:HGNC Symbol;Acc:HGNC:8616] |
| Ensembl ID | ENSG00000075891 |
| Bio databases IDs | |
| Aliases | paired box 2 |
| Synonyms | FSGS7, OPDC, paired box 2, PAPRS |
| 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 PAX2 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
- DNA binding domain
- nucleic acid binding
- HTH_ARSR
- transcription activation domain
- transcription factor binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- HTH_CRP
- Paired-box protein 2 C terminal
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- lysosomal import sequence
- 'Paired box' domain
- transcription factor activity
- 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
- cardiovascular disorder
- diabetes mellitus
- systemic lupus erythematosus
- papillorenal syndrome
- PAX2-related disorder
- epithelial cancer
- epithelial endometrial cancer
- endometrial cancer
- vesicoureteral reflux
- hypoplasia
role in cell
- expression in
- migration
- proliferation
- invasion by
- growth
- differentiation
- motility
- development
- formation
- apoptosis
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
- vesicles
- centrosome
- microtubule organizing centers
- nucleoplasm
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pronephric field specification
- negative regulation of mesenchymal cell apoptotic process involved in metanephros development
- optic nerve structural organization
- negative regulation of programmed cell death
- negative regulation of apoptotic process involved in metanephric collecting duct development
- negative regulation of apoptotic process involved in metanephric nephron tubule development
- optic nerve development
- optic nerve morphogenesis
- negative regulation of transcription, DNA-dependent
- retinal pigment epithelium development
- positive regulation of metanephric glomerulus development
- cellular response to glucose stimulus
- positive regulation of transcription, DNA-dependent
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- axonogenesis
- mesonephros development
- ureter development
- metanephric distal convoluted tubule development
- negative regulation of mesenchymal stem cell apoptotic process involved in metanephric nephron morphogenesis
- positive regulation of metanephric DCT cell differentiation
- cell fate determination
- positive regulation of epithelial cell proliferation
- regulation of metanephric nephron tubule epithelial cell differentiation
- positive regulation of optic nerve formation
- positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
- ureter maturation
- mesenchymal to epithelial transition
- optic chiasma development
- cochlea development
- cochlea morphogenesis
- mesodermal cell fate specification
- mesenchymal to epithelial transition involved in metanephros morphogenesis
- nephric duct formation
- inner ear morphogenesis
- cellular response to epidermal growth factor stimulus
- response to nutrient levels
- anatomical structure development
- brain morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- vestibulocochlear nerve formation
- metanephric mesenchymal cell differentiation
- neural tube closure
- stem cell differentiation
- metanephric nephron tubule formation
- camera-type eye development
- metanephric collecting duct development
- metanephric epithelium development
- negative regulation of reactive oxygen species metabolic process
- optic cup morphogenesis involved in camera-type eye development
- visual perception
- regulation of transcription from RNA polymerase II promoter
- pronephros development
- metanephric mesenchyme development
- urogenital system development
- cellular response to retinoic acid
- branching involved in ureteric bud morphogenesis
- negative regulation of apoptotic process
- glial cell differentiation
- regulation of metanephros size
Cellular Component
Where in the cell the gene product is active
- nucleus
- microtubule organizing center
- centriolar satellite
- protein-DNA complex
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity