AQP11: Aquaporin-11 Gene
A water channel gene implicated in kidney function and polycystic kidney disease
Gene Information Card
| Symbol | AQP11 |
|---|---|
| Full Name | aquaporin 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.5 |
| NCBI Gene ID | 282679 ncbi.nlm.nih.gov/gene/282679 |
| Ensembl ID | ENSG00000178301 |
| UniProt ID | Q8NBQ7 |
| OMIM ID | 609914 |
| HGNC ID | 19940 |
| Aliases | AQP11, aquaporin-11, AQPX1, AQP11L |
Description
AQP11 (aquaporin 11) is a protein-coding gene that encodes a member of the aquaporin family of water-selective membrane channels. Unlike classical aquaporins, AQP11 has an unusual NPA (asparagine-proline-alanine) motif and is localized to intracellular membranes, particularly the endoplasmic reticulum. It is essential for kidney function, and mutations in AQP11 cause autosomal recessive polycystic kidney disease (ARPKD)-like phenotypes in mice and are associated with human kidney disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic kidney disease | Loss-of-function mutations in AQP11 disrupt water transport in the endoplasmic reticulum, leading to cyst formation and renal failure. | OMIM #609914; NCBI Gene; ClinVar |
| Nephronophthisis | AQP11 variants may contribute to tubular atrophy and interstitial fibrosis. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Testis | 6.1 | Low |
| Brain | 4.2 | Not detected |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in transfected cells |
| HK-2 (kidney proximal tubule) | 11.0 | Endogenous expression |
| HepG2 | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.506G>A (p.Gly169Asp) | Missense | Rare | Impaired water permeability; associated with kidney cysts |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; pathogenic in ARPKD |
| c.763C>T (p.Arg255*) | Nonsense | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt water channel activity or protein stability, leading to kidney cyst formation.
Gain of Function (GOF)
Not reported for AQP11.
Dominant Negative (DN)
Not reported for AQP11.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • plasma membrane (GO:0005886) |
| • endoplasmic reticulum (GO:0005783) | • water transport (GO:0006833) |
| • intracellular membrane-bounded organelle (GO:0072560) |
Pathways
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
• Water homeostasis (KEGG: hsa04976)
Protein Summary
Aquaporin-11 (AQP11) is a 271-amino acid water channel protein with six transmembrane domains and two NPA motifs (one canonical, one divergent). It localizes primarily to the endoplasmic reticulum and is essential for water homeostasis in kidney proximal tubules. AQP11 forms homotetramers and facilitates water movement across intracellular membranes. Mutations cause defective water transport, leading to polycystic kidney disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP11 Knockout HEK293 Cell Line | EDJ-KQ12401 | Human | 282679 | Details Get a Quote |
| AQP11 Knockout A-549 Cell Line | EDJ-KQ41289 | Human | 282679 | Details Get a Quote |
| AQP11 Knockout HCT 116 Cell Line | EDJ-KQ41290 | Human | 282679 | Details Get a Quote |
| AQP11 Knockout HeLa Cell Line | EDJ-KQ41291 | Human | 282679 | Details Get a Quote |
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