AQP6: Aquaporin 6
A water channel with unique gating properties, primarily expressed in the kidney and implicated in acid-base balance and renal function.
Gene Information Card
| Symbol | AQP6 |
|---|---|
| Full Name | Aquaporin 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 363 ncbi.nlm.nih.gov/gene/363 |
| Ensembl ID | ENSG00000186187 |
| UniProt ID | Q13520 |
| OMIM ID | 600777 |
| HGNC ID | 638 |
| Aliases | AQP2L, WCH3 |
Description
AQP6 (aquaporin 6) encodes a member of the aquaporin family of water-selective membrane channels. Unlike most aquaporins, AQP6 is primarily localized to intracellular vesicles in renal intercalated cells and is gated by low pH and mercurial compounds. It functions as a water channel but also conducts anions under certain conditions, playing a role in acid-base homeostasis and urine concentration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrolithiasis (kidney stones) | Altered AQP6 expression may affect urinary acidification and solute concentration, contributing to stone formation. | PMID: 14561705 |
| Renal tubular acidosis | AQP6 dysfunction in intercalated cells could impair acid secretion, leading to metabolic acidosis. | PMID: 11880368 |
| Hypertension | AQP6 polymorphisms have been associated with blood pressure regulation in some populations. | PMID: 17913836 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Testis | 1.2 | Low |
| Liver | 0.8 | Low |
| Brain | 0.5 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | No endogenous expression |
| HK-2 (kidney proximal tubule) | 0.0 | Not detected |
| MDCK (kidney distal) | 0.0 | Not detected |
| Primary renal intercalated cells | 15.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.001% (gnomAD) | Reduced water permeability in vitro |
| c.487G>A (p.Gly163Arg) | Missense | 0.0005% (gnomAD) | Altered pH gating |
| c.1A>G (p.Met1Val) | Start loss | <0.0001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val (start loss) and p.Thr125Met reduce or abolish water channel activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • plasma membrane (GO:0005886) |
| • vesicle (GO:0031982) | • transport (GO:0006810) |
| • cellular response to pH (GO:0071472) |
Pathways
• Renal water reabsorption (Reactome: R-HSA-432047)
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
Protein Summary
Aquaporin 6 (AQP6) is a 282-amino acid integral membrane protein with six transmembrane domains and two NPA (asparagine-proline-alanine) motifs characteristic of aquaporins. It forms homotetramers and is predominantly expressed in intracellular vesicles of renal intercalated cells. AQP6 is unique among aquaporins in being activated by low pH and inhibited by HgCl2. It mediates water and anion transport, contributing to urinary acidification and volume regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP6 Knockout HEK293 Cell Line | EDJ-KQ4074 | Human | 363 | Details Get a Quote |
| AQP6 Knockout HeLa Cell Line | EDJ-KQ52648 | Human | 363 | Details Get a Quote |
| AQP6 Knockout A-549 Cell Line | EDJ-KQ61121 | Human | 363 | Details Get a Quote |
| AQP6 Knockout HCT 116 Cell Line | EDJ-KQ69608 | Human | 363 | Details Get a Quote |
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