AQP9: Aquaporin 9 - Glycerol and Water Channel
Comprehensive gene card for AQP9, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | AQP9 |
|---|---|
| Full Name | Aquaporin 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.1 |
| NCBI Gene ID | 366 ncbi.nlm.nih.gov/gene/366 |
| Ensembl ID | ENSG00000165092 |
| UniProt ID | O43315 |
| OMIM ID | 602914 |
| HGNC ID | 643 |
| Aliases | AQP9, HsT17287, AQP-9, aquaglyceroporin 9 |
Description
AQP9 (Aquaporin 9) encodes a member of the aquaporin family of water-selective membrane channels. This protein also facilitates the transport of glycerol, urea, and other small solutes. It is expressed in liver, leukocytes, and testis, and plays a role in glycerol metabolism, energy homeostasis, and immune function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | AQP9 downregulation reduces glycerol uptake, altering hepatic metabolism | PMID: 23541999 |
| Non-alcoholic fatty liver disease (NAFLD) | AQP9 mediates glycerol transport; dysregulation contributes to steatosis | PMID: 25645627 |
| Gout | AQP9 variants associated with urate transport and hyperuricemia | PMID: 23263486 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 27.8 | High |
| Bone marrow | 12.3 | Medium |
| Testis | 8.9 | Medium |
| Lung | 3.2 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.4 | Hepatocellular carcinoma cell line |
| THP-1 | 9.8 | Monocytic leukemia cell line |
| K562 | 6.2 | Chronic myeloid leukemia cell line |
| A549 | 2.1 | Lung adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Reduced glycerol permeability in vitro |
| c.487G>A (p.Val163Ile) | Missense | 0.005% | Unknown functional effect |
| c.724C>T (p.Arg242Trp) | Missense | 0.002% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
c.101C>T (p.Thr34Met) reduces glycerol transport; c.724C>T (p.Arg242Trp) predicted damaging.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • glycerol transmembrane transporter activity (GO:0015168) |
| • channel activity (GO:0015267) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • water transport (GO:0006833) |
| • glycerol transport (GO:0015793) |
Pathways
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
• Glycerol metabolism (KEGG: hsa00561)
• Urate transport (KEGG: hsa04976)
Protein Summary
AQP9 is a 295-amino acid aquaglyceroporin with six transmembrane domains and two NPA (Asn-Pro-Ala) motifs. It forms a tetrameric channel selective for water, glycerol, urea, and other small neutral solutes. The protein is primarily localized to the plasma membrane of hepatocytes, leukocytes, and testicular cells, where it regulates glycerol flux and osmotic balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP9 Knockout HEK293 Cell Line | EDJ-KQ4077 | Human | 366 | Details Get a Quote |
| AQP9 Knockout HeLa Cell Line | EDJ-KQ52650 | Human | 366 | Details Get a Quote |
| AQP9 Knockout A-549 Cell Line | EDJ-KQ61123 | Human | 366 | Details Get a Quote |
| AQP9 Knockout HCT 116 Cell Line | EDJ-KQ69610 | Human | 366 | Details Get a Quote |
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