AQP8: Aquaporin 8 - Water Channel Protein
Comprehensive gene overview of AQP8, including function, expression, and disease associations.
Gene Information Card
| Symbol | AQP8 |
|---|---|
| Full Name | Aquaporin 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 343 ncbi.nlm.nih.gov/gene/343 |
| Ensembl ID | ENSG00000103375 |
| UniProt ID | O94778 |
| OMIM ID | 603750 |
| HGNC ID | 639 |
| Aliases | AQP-8, MGC26307 |
Description
AQP8 (Aquaporin 8) encodes a water channel protein that facilitates the transport of water across cell membranes. It is also permeable to ammonia and hydrogen peroxide. AQP8 is expressed in various tissues including liver, pancreas, colon, and salivary glands, and plays roles in fluid secretion, bile formation, and cellular redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | AQP8 downregulation may contribute to tumor progression by altering water and ammonia transport. | NCBI Gene, PubMed |
| Liver Cirrhosis | Altered AQP8 expression in hepatocytes affects bile secretion and fluid homeostasis. | NCBI Gene, PubMed |
| Inflammatory Bowel Disease | Reduced AQP8 expression in colonic epithelium correlates with impaired water transport and diarrhea. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Colon | 6.1 | Low |
| Salivary Gland | 5.4 | Low |
| Kidney | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| PANC-1 | 6.5 | Pancreatic carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Uncertain significance |
| c.100C>T | Synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • channel activity (GO:0015267) |
| • plasma membrane (GO:0005886) | • membrane (GO:0016020) |
| • water transport (GO:0006833) | • urea transmembrane transport (GO:0071918) |
Pathways
• Transport of water via aquaporins (Reactome: R-HSA-445717)
• Ammonia transport (Reactome: R-HSA-210500)
Protein Summary
Aquaporin-8 (AQP8) is a 261-amino acid integral membrane protein with six transmembrane domains and two NPA (asparagine-proline-alanine) motifs characteristic of aquaporins. It forms homotetramers and functions as a water-selective channel, also permeable to ammonia and hydrogen peroxide. AQP8 is localized to the plasma membrane and intracellular vesicles, and its expression is regulated by hormones and osmotic stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP8 Knockout HEK293 Cell Line | EDJ-KQ4069 | Human | 343 | Details Get a Quote |
| AQP8 Knockout HeLa Cell Line | EDJ-KQ52635 | Human | 343 | Details Get a Quote |
| AQP8 Knockout A-549 Cell Line | EDJ-KQ61110 | Human | 343 | Details Get a Quote |
| AQP8 Knockout HCT 116 Cell Line | EDJ-KQ69596 | Human | 343 | Details Get a Quote |
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