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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AQP5
aquaporin 5
Chromosome 12 · 12q13.12
NCBI Gene: 362Ensembl: ENSG00000161798.8HGNC: HGNC:638UniProt: P55064
184PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingwater channel activityodontogenesisprotein homotetramerizationNon-epidermolytic palmoplantar keratodermaPalmoplantar keratodermadiffuse nonepidermolytic palmoplantar keratodermaneoplasm
✦AI Summary

AQP5 is a water channel protein that functions as a homotetrameric transmembrane channel, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient 1. In normal physiology, AQP5 plays a critical role in fluid secretion in salivary glands and is required for TRPV4 activation by hypotonicity, controlling regulatory volume decrease in salivary epithelial cells 2. AQP5 expression is downregulated in Sjögren's syndrome salivary glands during interferon-γ-induced ferroptosis, and restoration of AQP5 expression correlates with improved salivary gland function 34. Beyond fluid transport, AQP5 has emerged as a functional cancer stem cell (CSC) marker in gastric cancer, enriching for self-renewing populations capable of initiating and sustaining tumor progression. AQP5+ CSCs promote tumor growth and invasion through WNT, PI3K, and MAPK-dependent mechanisms, and coordinate with LGR5 to enhance malignant biological functions by activating autophagy and inducing ULK1 ubiquitination 56. AQP5 is also ectopically overexpressed in breast cancer, where it associates with lymph node metastasis, poor prognosis, and dysregulated epithelial cell-cell adhesion 7. In early gastric cardia adenocarcinoma, NNMT-mediated metabolism enriches AQP5+ stem cell populations that drive malignant progression 8. These findings position AQP5 as a potential prognostic biomarker and therapeutic target in cancer.

Sources cited
1
AQP5 assembles as homotetramers with each monomer containing a distinct water pore formed by six membrane-spanning alpha-helical domains
PMID: 10644652
2
AQP5 is required for TRPV4 activation by hypotonicity and controls regulatory volume decrease in salivary epithelial cells
PMID: 16571723
3
AQP5 expression is downregulated in Sjögren's syndrome salivary glands via IFN-γ-induced ferroptosis
PMID: 37286044
4
DPSC-derived exosomes restore AQP5 expression in salivary gland epithelial cells and improve salivary gland function in Sjögren's syndrome models
PMID: 37268950
5
AQP5 marks gastric cancer stem cells and is required for initiating and sustaining cancer progression through WNT, PI3K, and MAPK-dependent mechanisms
PMID: 41411445
6
AQP5 is a specific surface marker of gastric cancer stem cells that activates autophagy by inducing ULK1 K63-mediated ubiquitination
PMID: 36372898
7
AQP5 is ectopically overexpressed in breast cancer and associates with lymph node metastasis, poor prognosis, and dysregulated epithelial cell-cell adhesion
PMID: 35114014
8
NNMT-mediated nicotinamide metabolism enriches AQP5+ stem cell populations that drive malignant progression in early gastric cardia adenocarcinoma
PMID: 36977555
Disease Associationsⓘ21
Non-epidermolytic palmoplantar keratodermaOpen Targets
0.77Strong
Palmoplantar keratodermaOpen Targets
0.37Weak
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.37Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
synovial sarcomaOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
dry eye syndromeOpen Targets
0.08Suggestive
chronic myelogenous leukemiaOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
allergic rhinitisOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
dental cariesOpen Targets
0.06Suggestive
Keratoderma, palmoplantar, Bothnian typeUniProt
Pathogenic Variants5
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)Pathogenic
Palmoplantar keratoderma, Bothnian type|not provided
★☆☆☆2023→ Residue 38
NM_001651.4(AQP5):c.526G>A (p.Gly176Arg)Likely pathogenic
Palmoplantar keratoderma, Bothnian type
★☆☆☆2021→ Residue 176
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)Pathogenic
Palmoplantar keratoderma, Bothnian type
☆☆☆☆2013→ Residue 45
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)Pathogenic
Palmoplantar keratoderma, Bothnian type
☆☆☆☆2013→ Residue 177
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)Pathogenic
Palmoplantar keratoderma, Bothnian type
☆☆☆☆2013→ Residue 123
View on ClinVar ↗
Related Genes
SFTPCProtein interaction95%TRPV4Protein interaction87%AQP11Protein interaction87%AQP7Protein interaction75%SCGB1A1Protein interaction73%KRT5Protein interaction72%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
99%
Brain
34%
Heart
22%
Liver
6%
Ovary
6%
Gene Interaction Network
Click a node to explore
AQP5SFTPCTRPV4AQP11AQP7SCGB1A1KRT5
PROTEIN STRUCTURE
Preparing viewer…
PDB3D9S · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.52–1.32]
RankingsWhere AQP5 stands among ~20K protein-coding genes
  • #2,339of 20,598
    Most Researched184 · top quartile
  • #3,490of 5,498
    Most Pathogenic Variants5
  • #13,830of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedAQP5
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
AQP5: A functional gastric cancer stem cell marker in mouse and human tumors.
PMID: 41411445
Science · 2025
1.00
2
Structure and function of aquaporin water channels.
PMID: 10644652
Am J Physiol Renal Physiol · 2000
0.90
3
KRAS G12C-mutant driven non-small cell lung cancer (NSCLC).
PMID: 38072173
Crit Rev Oncol Hematol · 2024
0.80
4
AQP5 complements LGR5 to determine the fates of gastric cancer stem cells through regulating ULK1 ubiquitination.
PMID: 36372898
J Exp Clin Cancer Res · 2022
0.70
5
Unraveling Human AQP5-PIP Molecular Interaction and Effect on AQP5 Salivary Glands Localization in SS Patients.
PMID: 34440877
Cells · 2021
0.68