AQP2 Gene Summary [Human]
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | AQP2 |
| Official Name | aquaporin 2 [Source:HGNC Symbol;Acc:HGNC:634] |
| Ensembl ID | ENSG00000167580 |
| Bio databases IDs | |
| Aliases | aquaporin 2 |
| Synonyms | AQP-CD, Aquaporin 2, cph, jpk, NDI2, WCH-CD |
| 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 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 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
- 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 human 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