AQP11
geneOn this page
Also known as AQPX1
Summary
AQP11 (aquaporin 11, HGNC:19940) is a protein-coding gene on chromosome 11q14.1, encoding Aquaporin-11 (Q8NBQ7). Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain.
Enables glycerol channel activity; hydrogen peroxide channel activity; and water channel activity. Involved in several processes, including glycerol transmembrane transport; hydrogen peroxide transmembrane transport; and intracellular water homeostasis. Located in cell surface; endoplasmic reticulum; and plasma membrane.
Source: NCBI Gene 282679 — RefSeq curated summary.
At a glance
- Gene–disease (curated): polycystic kidney disease (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_173039
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19940 |
| Approved symbol | AQP11 |
| Name | aquaporin 11 |
| Location | 11q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AQPX1 |
| Ensembl gene | ENSG00000178301 |
| Ensembl biotype | protein_coding |
| OMIM | 609914 |
| Entrez | 282679 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000313578, ENST00000528638, ENST00000878997, ENST00000925651
RefSeq mRNA: 2 — MANE Select: NM_173039
NM_001363477, NM_173039
CCDS: CCDS8251
Canonical transcript exons
ENST00000313578 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001212931 | 77589953 | 77590611 |
| ENSE00002152925 | 77609298 | 77610356 |
| ENSE00003673757 | 77603556 | 77603672 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 96.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.8911 / max 151.2148, expressed in 992 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115991 | 1.8630 | 658 |
| 115990 | 1.0125 | 620 |
| 115992 | 0.0156 | 4 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 96.26 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.76 | gold quality |
| duodenum | UBERON:0002114 | 90.46 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.84 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.60 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.23 | gold quality |
| sperm | CL:0000019 | 86.76 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 86.57 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.68 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.52 | gold quality |
| adrenal gland | UBERON:0002369 | 83.73 | gold quality |
| right lobe of liver | UBERON:0001114 | 82.60 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.52 | gold quality |
| right testis | UBERON:0004534 | 78.72 | gold quality |
| liver | UBERON:0002107 | 78.18 | gold quality |
| left testis | UBERON:0004533 | 78.04 | gold quality |
| testis | UBERON:0000473 | 77.44 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.47 | gold quality |
| left ovary | UBERON:0002119 | 76.23 | gold quality |
| adult organism | UBERON:0007023 | 75.96 | gold quality |
| cortical plate | UBERON:0005343 | 75.69 | gold quality |
| right ovary | UBERON:0002118 | 75.68 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.69 | gold quality |
| small intestine | UBERON:0002108 | 74.54 | gold quality |
| prefrontal cortex | UBERON:0000451 | 74.50 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.15 | gold quality |
| ovary | UBERON:0000992 | 73.81 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 73.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting AQP11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
Literature-anchored findings (GeneRIF, showing 13)
- the corresponding NPC motif of AQP11 is essential for full expression of molecular function. (PMID:21118806)
- Built accurate 3D-models for AQP11 and AQP12 and comprehensively compared their sequence and structure to other known aquaporins. (PMID:23359558)
- hAQP11 permeates both water and glycerol, localizing in the vicinity of lipid droplets in human adipocytes. (PMID:24845055)
- Identify rs2276415 as a candidate genetic factor predisposing patients with type 2 diabetes to chronic kidney disease. (PMID:26719361)
- Aquaporins AQP3, -7, -8, and -11 proteins were found in sperm cells and localized in the head (AQP7), in the middle piece (AQP8) and in the tail (AQP3 and -11) in both the plasma membrane and in intracellular structures. (PMID:28042826)
- The AQP11 rs2276415 variant may have a role in chronic kidney disease progression in the Chinese population, independent of traditional risk factors (PMID:30010847)
- These results indicated that hepatitis C virus (HCV) infection induced a miR-27b-mediated reduction in AQP11 expression, leading to a modest reduction in HCV genome levels in the cells. (PMID:31046802)
- Human aquaporin-11 guarantees efficient transport of H2O2 across the endoplasmic reticulum membrane. (PMID:31546170)
- Hydrogen peroxide in the ER: A tale of triage. (PMID:31685402)
- Aquaporin-11 Contributes to TGF-beta1-Induced Endoplasmic Reticulum Stress in Human Visceral Adipocytes: Role in Obesity-Associated Inflammation. (PMID:32512939)
- Aquaporin 11 alleviates retinal Muller intracellular edema through water efflux in diabetic retinopathy. (PMID:36403720)
- Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis. (PMID:36420936)
- Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors. (PMID:38451099)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aqp11 | ENSDARG00000100555 |
| mus_musculus | Aqp11 | ENSMUSG00000042797 |
| rattus_norvegicus | Aqp11 | ENSRNOG00000013358 |
| drosophila_melanogaster | AQP | FBGN0033807 |
| caenorhabditis_elegans | aqp-9 | WBGENE00000177 |
| caenorhabditis_elegans | WBGENE00000178 | |
| caenorhabditis_elegans | WBGENE00000179 |
Paralogs (2): AQP12A (ENSG00000184945), AQP12B (ENSG00000185176)
Protein
Protein identifiers
Aquaporin-11 — Q8NBQ7 (reviewed: Q8NBQ7)
All UniProt accessions (1): Q8NBQ7
UniProt curated annotations — full annotation on UniProt →
Function. Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain. In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway. Plays a role by maintaining an environment suitable for translation or protein foldings in the ER lumen namely by participating in the PKD1 glycosylation processing resulting in regulation of PKD1 membrane trafficking thereby preventing the accumulation of unfolding protein in ER. Plays a role in the proximal tubule function by regulating its endosomal acidification. May play a role in postnatal kidney development.
Subunit / interactions. Homodimer; disulfide-linked. Homotetramer. Can also form homomultimer.
Subcellular location. Endoplasmic reticulum membrane. Cytoplasmic vesicle membrane. Cell membrane.
Tissue specificity. Detected in the sperm head and tail (at protein level). Expressed in subcutaneous adipocytes. Expressed in testis, kidney and ejaculated spermatozoa.
Post-translational modifications. Not glycosylated.
Domain organisation. The NPC motif is essential for oligomerization and water permeability function.
Similarity. Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
RefSeq proteins (2): NP_001350406, NP_766627* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000425 | MIP | Family |
| IPR016697 | Aquaporin_11/12 | Family |
| IPR023266 | Aquaporin_11 | Family |
| IPR023271 | Aquaporin-like | Homologous_superfamily |
| IPR051883 | AQP11/12_channel | Family |
Pfam: PF00230
Catalyzed reactions (Rhea), 3 shown:
- H2O(in) = H2O(out) (RHEA:29667)
- glycerol(in) = glycerol(out) (RHEA:29675)
- H2O2(out) = H2O2(in) (RHEA:74375)
UniProt features (19 total): topological domain 7, transmembrane region 6, short sequence motif 2, mutagenesis site 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9VXW | ELECTRON MICROSCOPY | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBQ7-F1 | 92.82 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 227 | does not affect endoplasmic reticulum localization. does not affect trafficking to the plasma membrane. increases osmoti |
| 227 | does not affect endoplasmic reticulum localization. does not affect trafficking to the plasma membrane. reduces protein |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-432047 | Passive transport by Aquaporins |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-445717 | Aquaporin-mediated transport |
MSigDB gene sets: 167 (showing top):
GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_ENDOSOME_ORGANIZATION, TGCGCANK_UNKNOWN, GOBP_VESICLE_ORGANIZATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_CELL_SURFACE, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT
GO Biological Process (17): protein targeting to membrane (GO:0006612), water transport (GO:0006833), positive regulation of cell population proliferation (GO:0008284), glycoprotein biosynthetic process (GO:0009101), intracellular water homeostasis (GO:0009992), glycerol transmembrane transport (GO:0015793), intracellular oxygen homeostasis (GO:0032364), endosomal lumen acidification (GO:0048388), negative regulation of epithelial cell proliferation (GO:0050680), protein homooligomerization (GO:0051260), proximal tubule development (GO:0072014), hydrogen peroxide transmembrane transport (GO:0080170), negative regulation of response to endoplasmic reticulum stress (GO:1903573), negative regulation of ERAD pathway (GO:1904293), kidney development (GO:0001822), obsolete protein glycosylation (GO:0006486), transmembrane transport (GO:0055085)
GO Molecular Function (4): water channel activity (GO:0015250), glycerol channel activity (GO:0015254), channel activity (GO:0015267), hydrogen peroxide channel activity (GO:0140070)
GO Cellular Component (8): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), cell surface (GO:0009986), cytoplasmic vesicle membrane (GO:0030659), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Aquaporin-mediated transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| channel activity | 3 |
| cellular anatomical structure | 3 |
| intracellular chemical homeostasis | 2 |
| cytoplasm | 2 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| fluid transport | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| cell volume homeostasis | 1 |
| polyol transmembrane transport | 1 |
| carbohydrate transmembrane transport | 1 |
| endosome organization | 1 |
| intracellular pH reduction | 1 |
| negative regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| protein complex oligomerization | 1 |
| nephron tubule development | 1 |
| transmembrane transport | 1 |
| response to endoplasmic reticulum stress | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of response to stimulus | 1 |
| regulation of response to endoplasmic reticulum stress | 1 |
| ERAD pathway | 1 |
| negative regulation of proteasomal protein catabolic process | 1 |
| negative regulation of response to endoplasmic reticulum stress | 1 |
| regulation of ERAD pathway | 1 |
| animal organ development | 1 |
| renal system development | 1 |
| transport | 1 |
| cellular process | 1 |
| water transmembrane transporter activity | 1 |
| glycerol transmembrane transporter activity | 1 |
| passive transmembrane transporter activity | 1 |
| hydrogen peroxide transmembrane transport | 1 |
Protein interactions and networks
STRING
702 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AQP11 | AQP7 | O14520 | 914 |
| AQP11 | AQP8 | O94778 | 910 |
| AQP11 | AQP10 | Q96PS8 | 888 |
| AQP11 | AQP6 | Q13520 | 888 |
| AQP11 | MIP | P30301 | 886 |
| AQP11 | AQP3 | Q92482 | 809 |
| AQP11 | AQP5 | P55064 | 804 |
| AQP11 | AQP2 | P41181 | 746 |
| AQP11 | AQP9 | O43315 | 745 |
| AQP11 | AQP1 | P29972 | 627 |
| AQP11 | GDPD4 | Q6W3E5 | 438 |
| AQP11 | RPS28 | P25112 | 370 |
| AQP11 | RAB30 | Q15771 | 370 |
| AQP11 | AGT | P01019 | 355 |
| AQP11 | PKD1 | P98161 | 353 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AQP11 | STAT5A | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (1): STAT5A (Two-hybrid)
ESM2 similar proteins: A1L134, A6NH21, A6NM10, A6QP75, A7MBM2, E1BE10, E2RD63, F6S3G9, O15554, O43292, O89109, P70295, Q17QQ5, Q32PG7, Q3ZCD2, Q4FZD7, Q5F2F2, Q5GH56, Q5GH64, Q5PQL3, Q60850, Q66K66, Q6IQX7, Q6PIS1, Q6UXT9, Q71RH2, Q7TN60, Q7TNV1, Q7Z403, Q863Y7, Q863Y8, Q8BHH1, Q8CHJ2, Q8CHM1, Q8IU68, Q8IXF9, Q8IZ52, Q8N2A8, Q8N9H8, Q8NBQ7
Diamond homologs: A6NM10, F6S3G9, Q8CHJ2, Q8CHM1, Q8IXF9, Q8NBQ7, Q8BHH1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
465 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:77590548:G:GT | donor_gain | 0.9900 |
| 11:77609292:TTTCA:T | acceptor_loss | 0.9900 |
| 11:77609293:TTCAG:T | acceptor_loss | 0.9900 |
| 11:77609294:TCAG:T | acceptor_loss | 0.9900 |
| 11:77609295:CA:C | acceptor_loss | 0.9900 |
| 11:77609296:A:C | acceptor_loss | 0.9900 |
| 11:77609297:GGT:G | acceptor_gain | 0.9900 |
| 11:77609297:GGTAT:G | acceptor_gain | 0.9900 |
| 11:77590663:GGCT:G | donor_gain | 0.9800 |
| 11:77590664:GCTG:G | donor_gain | 0.9800 |
| 11:77590664:GCT:G | donor_gain | 0.9700 |
| 11:77609288:T:A | acceptor_loss | 0.9700 |
| 11:77609296:A:AG | acceptor_gain | 0.9700 |
| 11:77609297:G:GG | acceptor_gain | 0.9700 |
| 11:77609339:T:G | acceptor_gain | 0.9600 |
| 11:77591365:A:G | donor_gain | 0.9400 |
| 11:77603668:TTTAG:T | donor_loss | 0.9400 |
| 11:77603669:TTAG:T | donor_loss | 0.9400 |
| 11:77603670:TAGGT:T | donor_loss | 0.9400 |
| 11:77603671:AGGT:A | donor_loss | 0.9400 |
| 11:77603672:GG:G | donor_loss | 0.9400 |
| 11:77603673:G:GC | donor_loss | 0.9400 |
| 11:77603674:T:TT | donor_loss | 0.9400 |
| 11:77590667:G:GG | donor_gain | 0.9300 |
| 11:77603675:AAGC:A | donor_loss | 0.9300 |
| 11:77591366:G:GG | donor_gain | 0.9100 |
| 11:77591370:T:G | donor_gain | 0.9000 |
| 11:77590563:C:G | donor_gain | 0.8600 |
| 11:77591484:A:AG | donor_gain | 0.8600 |
| 11:77609301:T:G | acceptor_gain | 0.8600 |
AlphaMissense
1760 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:77603584:T:A | N216K | 0.990 |
| 11:77603584:T:G | N216K | 0.990 |
| 11:77590371:A:C | S127R | 0.988 |
| 11:77590373:T:A | S127R | 0.988 |
| 11:77590373:T:G | S127R | 0.988 |
| 11:77590383:A:C | S131R | 0.985 |
| 11:77590385:C:A | S131R | 0.985 |
| 11:77590385:C:G | S131R | 0.985 |
| 11:77590289:C:A | N99K | 0.981 |
| 11:77590289:C:G | N99K | 0.981 |
| 11:77603672:G:C | G246R | 0.979 |
| 11:77590509:T:C | C173R | 0.971 |
| 11:77603568:C:T | T211I | 0.969 |
| 11:77590527:A:C | S179R | 0.967 |
| 11:77590529:C:A | S179R | 0.967 |
| 11:77590529:C:G | S179R | 0.967 |
| 11:77603664:C:G | P243R | 0.967 |
| 11:77603664:C:A | P243H | 0.966 |
| 11:77590141:A:T | E50V | 0.960 |
| 11:77590239:T:G | Y83D | 0.960 |
| 11:77590502:G:C | E170D | 0.960 |
| 11:77590502:G:T | E170D | 0.960 |
| 11:77590183:T:C | L64P | 0.959 |
| 11:77603579:T:C | F215L | 0.959 |
| 11:77603581:T:A | F215L | 0.959 |
| 11:77603581:T:G | F215L | 0.959 |
| 11:77590140:G:A | E50K | 0.956 |
| 11:77590166:C:G | C58W | 0.955 |
| 11:77590501:A:T | E170V | 0.953 |
| 11:77609298:G:A | G246D | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000024994 (11:77598861 T>C), RS1000133664 (11:77606340 A>G), RS1000305515 (11:77606064 G>A,C,T), RS1000380703 (11:77607122 G>A,T), RS1000533300 (11:77593911 A>C), RS1000580176 (11:77600578 G>A), RS1000718439 (11:77588041 G>C), RS1000838853 (11:77607422 C>A,T), RS1000869410 (11:77601896 G>A), RS1000966294 (11:77593570 G>A), RS1000982859 (11:77609212 T>C), RS1001177652 (11:77604276 C>T), RS1001203690 (11:77603804 A>G), RS1001438953 (11:77597015 A>G), RS1001507166 (11:77595425 A>G)
Disease associations
OMIM: gene MIM:609914 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| polycystic kidney disease | No Known Disease Relationship | Autosomal recessive |
Mondo (1): polycystic kidney disease (MONDO:0020642)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001991_3 | Weight loss (gastric bypass surgery) | 4.000000e-06 |
| GCST007277_15 | Tourette syndrome | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005245 | body weight loss |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007690 | Polycystic Kidney Diseases | C12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other ic — Aquaporins
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| nutlin 3 | increases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| quinocetone | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Camptothecin | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Quercetin | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9XQ | Ubigene HeLa AQP11 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
25 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02140814 | PHASE2 | COMPLETED | Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease |
| NCT02558595 | PHASE2 | COMPLETED | Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) |
| NCT02697617 | PHASE2 | COMPLETED | Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease |
| NCT02166489 | PHASE1 | COMPLETED | Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease |
| NCT01009957 | PHASE2/PHASE3 | TERMINATED | Everolimus on CKD Progression in ADPKD Patients |
| NCT01680250 | PHASE2/PHASE3 | UNKNOWN | Sirolimus for Massive Polycystic Liver |
| NCT00286156 | PHASE1/PHASE2 | COMPLETED | Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
| NCT03423810 | EARLY_PHASE1 | COMPLETED | Assessing a Dose-Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients |
| NCT00792155 | Not specified | RECRUITING | Polycystic Kidney Disease Data Repository |
| NCT01873235 | Not specified | RECRUITING | PKD Clinical and Translational Core Study |
| NCT01931644 | Not specified | COMPLETED | At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions |
| NCT02142101 | Not specified | COMPLETED | Evaluation of Gut Bacteria in Patients With Polycystic Kidney Disease |
| NCT02739750 | Not specified | COMPLETED | Pioglitazone and Lumbar Bone Marrow Fat in Chronic Kidney Disease |
| NCT02936791 | Not specified | RECRUITING | Early PKD Observational Cohort Study |
| NCT03726463 | Not specified | UNKNOWN | Evaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD |
| NCT03889392 | Not specified | COMPLETED | Evaluation of Nephrectomy Specimen for Intracranial Aneurysm Development in ADPKD |
| NCT03948113 | Not specified | COMPLETED | Outcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: a National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network). |
| NCT04039061 | Not specified | RECRUITING | ADPKD Patient Registry |
| NCT05215964 | Not specified | UNKNOWN | The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease |
| NCT06036992 | Not specified | ACTIVE_NOT_RECRUITING | Study and Management of Cystic Complications in Autosomal Dominant Polycystic Kidney Disease |
| NCT06325644 | Not specified | RECRUITING | Well-Formulated Ketogenic Diet Polycystic Kidney Disease |
| NCT06728228 | Not specified | RECRUITING | Amnioinfusion for Fetal Renal Failure |
| NCT06841224 | Not specified | ENROLLING_BY_INVITATION | The Factors Affecting IPP in Peritoneal Dialysis Patients with Polycystic Kidney Disease |
| NCT06867471 | Not specified | RECRUITING | Effects of Exogenous Ketosis on Proteinuria and Renal Function |
| NCT07310641 | Not specified | COMPLETED | Descriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected |
Related Atlas pages
- Associated diseases: polycystic kidney disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): polycystic kidney disease