HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AQP6
aquaporin 6
Chromosome 12 · 12q13.12
NCBI Gene: 363Ensembl: ENSG00000086159.15HGNC: HGNC:639UniProt: Q13520
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
water channel activityrenal water transportodontogenesisprotein bindingalcohol drinkingurethral syndromeovarian cancerX-linked retinal dysplasia
✦AI Summary

AQP6 is an intracellular aquaporin channel with a unique functional profile distinct from classical water-channel aquaporins 1. Unlike most aquaporins, AQP6 exhibits very low water permeability but functions as a pH-gated anion channel with selective permeability for nitrate and chloride ions 2. The molecular mechanism involves pH-dependent allosteric gating: protonation of histidine residues (H184 and H189) under acidic conditions triggers opening of the hydrophobic selectivity filter in the central pore, enabling anion permeation 2. A single amino acid mutation (N63G) significantly reduces this anion conductivity, confirming the selectivity filter's importance 2. AQP6 is expressed across multiple tissues including the kidney and central nervous system 3 4. In renal physiology, AQP6 plays roles in maintaining kidney function, though its precise physiological significance differs from other renal aquaporins 1. In the nervous system, AQP6 is among nine aquaporins expressed in the CNS, participating in water flux regulation 5. Clinically, altered AQP6 expression associates with various pathologies including renal cell carcinoma, epithelial ovarian tumors, and Meniere's disease, where decreased AQP6 expression in malignant tissues suggests potential involvement in tumorigenesis 6 7 3.

Sources cited
1
AQP6 is a pH-gated anion channel with molecular mechanism involving histidine protonation and selectivity filter gating
PMID: 38894539
2
AQP6 has unique distribution and distinct function compared to other renal aquaporins, with low water permeability
PMID: 19096784
3
AQP6 is expressed in kidney and involved in renal diseases including renal cell carcinoma
PMID: 30654539
4
AQP6 is expressed in the central nervous system and involved in CNS water flux
PMID: 28258567
5
AQP6 is one of nine aquaporins expressed in the CNS participating in water flux regulation
PMID: 36717489
6
AQP6 expression is decreased in malignant ovarian tumors compared to benign tumors and normal tissues
PMID: 26779650
7
Altered AQP6 expression in supporting cells is associated with Meniere's disease pathology
PMID: 25766597
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.30Weak
urethral syndromeOpen Targets
0.14Weak
ovarian cancerOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
Senior-Loken syndrome 7Open Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
malignant pleural mesotheliomaOpen Targets
0.03Suggestive
kidney oncocytomaOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
Meniere diseaseOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
ovarian serous adenocarcinomaOpen Targets
0.02Suggestive
Ovarian Endometrioid AdenocarcinomaOpen Targets
0.02Suggestive
ovarian epithelial tumorOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
mesotheliomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
acoustic neuromaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AQP12AProtein interaction94%AQP10Protein interaction94%AQP11Protein interaction76%RHAGShared pathway38%RHBGShared pathway25%AQP5Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Liver
55%
Ovary
36%
Lung
25%
Heart
16%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
AQP6AQP12AAQP10AQP11RHAGRHBGAQP5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13520
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.61–1.40]
RankingsWhere AQP6 stands among ~20K protein-coding genes
  • #15,791of 20,598
    Most Researched14
  • #14,471of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedAQP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Aquaporins in Nervous System.
PMID: 28258567
Adv Exp Med Biol · 2017
1.00
2
Aquaporins in Renal Diseases.
PMID: 30654539
Int J Mol Sci · 2019
0.90
3
Aquaporins in Nervous System.
PMID: 36717489
Adv Exp Med Biol · 2023
0.80
4
Expression of AQP6 and AQP8 in epithelial ovarian tumor.
PMID: 26779650
J Mol Histol · 2016
0.70
5
Molecular mechanism of anion permeation through aquaporin 6.
PMID: 38894539
Biophys J · 2024
0.60