Aqp2 Gene Summary [Mouse]
Enables water channel activity. Involved in metanephric collecting duct development. Acts upstream of or within cellular response to water deprivation and renal water transport. Located in several cellular components, including apical plasma membrane; lumenal side of membrane; and recycling endosome. Is expressed in inner ear; metanephros; vestibulo-cochlear ganglion; and vestibulocochlear nerve cochlear component. Used to study nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in nephrogenic diabetes insipidus and nephrogenic diabetes insipidus type 2. Orthologous to human AQP2 (aquaporin 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Aqp2 |
| Official Name | aquaporin 2 [Source:MGI Symbol;Acc:MGI:1096865] |
| Ensembl ID | ENSMUSG00000023013 |
| Bio databases IDs | |
| Aliases | aquaporin 2 |
| Synonyms | AQP-CD, Aquaporin 2, cph, jpk, NDI2, WCH-CD |
| 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 Aqp2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MIP
- actin binding
- glycerol transporter
- protein binding
- water channel
- water transporter
- transporter
- PDZ-domain binding
Pathways
Biological processes and signaling networks where the Aqp2 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
- nephrogenic diabetes insipidus type II
- hydronephrosis
- ischemic acute renal failure
- autosomal recessive nephrogenic diabetes insipidus
- nephrogenic diabetes insipidus
- Wilms tumor
- Wilms tumorigenesis
- autosomal dominant nephrogenic diabetes insipidus
- allergic rhinitis
- growth failure
role in cell
- binding in
- proliferation
- volume
- organization
- response by
- water permeability
- depolymerization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- membrane fraction
- cytoplasmic vesicle membrane
- exocytic vesicle
- Cytoplasm
- cell surface
- intracellular space
- perinuclear region
- cellular membrane
- Nucleus
- endosomes
- vesicles
- granules
- apical cell surfaces
- apical membrane
- basolateral membrane
- trans Golgi network
- recycling endosomes
- early endosomes
- cytoplasmic vesicles
- apical vesicles
- exosomes
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aqp2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- water transport
- renal water homeostasis
- protein homotetramerization
- cellular response to mercury ion
- glycerol transport
- actin filament organization
- metanephric collecting duct development
- renal water transport
- cellular response to water deprivation
- cellular response to copper ion
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- transport vesicle membrane
- perinuclear region of cytoplasm
- membrane
- Golgi apparatus
- recycling endosome
- basolateral plasma membrane
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- glycerol transmembrane transporter activity
- protein binding
- water transmembrane transporter activity
- water channel activity