AQP2: Aquaporin 2 Gene
Key regulator of renal water reabsorption and nephrogenic diabetes insipidus
Gene Information Card
| Symbol | AQP2 |
|---|---|
| Full Name | aquaporin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 359 ncbi.nlm.nih.gov/gene/359 |
| Ensembl ID | ENSG00000167580 |
| UniProt ID | P41181 |
| OMIM ID | 107777 |
| HGNC ID | 634 |
| Aliases | ADH-R, WCH-CD, AQP-CD |
Description
AQP2 (aquaporin 2) is a protein-coding gene located on chromosome 12q13.12. It encodes a water channel protein that is primarily expressed in the kidney collecting duct and is essential for water reabsorption in response to vasopressin (antidiuretic hormone). Mutations in AQP2 cause autosomal recessive or dominant nephrogenic diabetes insipidus (NDI), a disorder characterized by polyuria and polydipsia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrogenic diabetes insipidus (NDI) | Loss-of-function mutations impair water channel function, reducing renal water reabsorption | ClinVar, OMIM |
| Autosomal dominant NDI | Dominant-negative mutations disrupt tetramer formation and trafficking | OMIM, PubMed |
| Autosomal recessive NDI | Biallelic loss-of-function mutations abolish water permeability | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Urinary bladder | 0.8 | Low |
| Prostate | 0.3 | Low |
| Testis | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.1 | Low expression |
| HK-2 (kidney proximal tubule) | 0.5 | Moderate |
| MDCK (canine kidney) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | Rare | Loss of function; associated with recessive NDI |
| c.772G>A (p.Gly258Arg) | Missense | Rare | Dominant-negative; causes dominant NDI |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; recessive NDI |
Mutation functional classification
Loss of Function (LOF)
Most AQP2 mutations cause loss of function by impairing water channel activity or membrane trafficking, leading to recessive NDI.
Gain of Function (GOF)
No gain-of-function mutations reported for AQP2.
Dominant Negative (DN)
Dominant-negative mutations (e.g., p.Gly258Arg) disrupt tetramer assembly and trafficking of wild-type AQP2, causing dominant NDI.
View complete mutation data：
Gene Ontology (GO)
| • water transport | • water channel activity |
| • response to vasopressin | • kidney collecting duct development |
| • transmembrane transport |
Pathways
• Vasopressin-regulated water reabsorption (KEGG: hsa04962)
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
Protein Summary
Aquaporin 2 (AQP2) is a 271-amino acid integral membrane protein that forms homotetrameric water channels. It is primarily expressed in the apical membrane of kidney collecting duct principal cells. Upon vasopressin stimulation, AQP2 is translocated from intracellular vesicles to the plasma membrane, increasing water permeability. Mutations in AQP2 disrupt this process, leading to nephrogenic diabetes insipidus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP2 Knockout HEK293 Cell Line | EDJ-KQ3141 | Human | 359 | Details Get a Quote |
| AQP2 Knockout HeLa Cell Line | EDJ-KQ52645 | Human | 359 | Details Get a Quote |
| AQP2 Knockout A-549 Cell Line | EDJ-KQ61118 | Human | 359 | Details Get a Quote |
| AQP2 Knockout HCT 116 Cell Line | EDJ-KQ69605 | Human | 359 | Details Get a Quote |
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