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AQP6

gene
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Summary

AQP6 (aquaporin 6, HGNC:639) is a protein-coding gene on chromosome 12q13.12, encoding Aquaporin-6 (Q13520). Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient.

The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13.

Source: NCBI Gene 363 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 48 total
  • MANE Select transcript: NM_001652

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:639
Approved symbolAQP6
Nameaquaporin 6
Location12q13.12
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000086159
Ensembl biotypeprotein_coding
OMIM601383
Entrez363

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000315520, ENST00000489786, ENST00000551733, ENST00000618286, ENST00000861814, ENST00000861815

RefSeq mRNA: 1 — MANE Select: NM_001652 NM_001652

CCDS: CCDS31798

Canonical transcript exons

ENST00000315520 — 4 exons

ExonStartEnd
ENSE000018214474997546549977139
ENSE000036351904997432449974482
ENSE000036483064997474649974826
ENSE000038490044997294749973575

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 95.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0563 / max 42.6537, expressed in 9 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1253980.03916
1253970.01723

Top tissues by expression

247 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
metanephros cortexUBERON:001053395.77gold quality
olfactory bulbUBERON:000226489.10gold quality
type B pancreatic cellCL:000016987.81gold quality
adult mammalian kidneyUBERON:000008287.58gold quality
tongue squamous epitheliumUBERON:000691986.79gold quality
diaphragmUBERON:000110384.41gold quality
hair follicleUBERON:000207381.96gold quality
renal medullaUBERON:000036281.76gold quality
kidneyUBERON:000211381.75gold quality
cervix squamous epitheliumUBERON:000692281.61gold quality
orbitofrontal cortexUBERON:000416780.52silver quality
metanephrosUBERON:000008179.79gold quality
nasal cavity epitheliumUBERON:000538477.77gold quality
quadriceps femorisUBERON:000137776.12gold quality
vastus lateralisUBERON:000137976.02gold quality
cortex of kidneyUBERON:000122575.65gold quality
pancreatic ductal cellCL:000207975.54silver quality
nephron tubuleUBERON:000123175.41silver quality
skeletal muscle tissue of biceps brachiiUBERON:000450275.30gold quality
kidney epitheliumUBERON:000481975.21silver quality
endothelial cellCL:000011574.89silver quality
epithelial cell of pancreasCL:000008374.77gold quality
cervix epitheliumUBERON:000480174.60gold quality
left ventricle myocardiumUBERON:000656674.56gold quality
choroid plexus epitheliumUBERON:000391174.52gold quality
inferior vagus X ganglionUBERON:000536374.16gold quality
myocardiumUBERON:000234974.01gold quality
triceps brachiiUBERON:000150973.98gold quality
gluteal muscleUBERON:000200073.95gold quality
thymusUBERON:000237073.84gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes2.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting AQP6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-569699.9872.364487
HSA-MIR-495-3P99.9672.814197
HSA-MIR-568899.9673.234504
HSA-MIR-3912-5P99.9566.11925
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-76599.8468.242442
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-4766-5P99.7569.232662
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-149-3P99.7268.223963
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-472999.6972.184233
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-6766-5P99.6867.702325
HSA-MIR-7106-5P99.5367.473574
HSA-MIR-671-5P99.5267.111277
HSA-MIR-766-5P99.4767.912225
HSA-MIR-766-3P99.4765.241811

Literature-anchored findings (GeneRIF, showing 4)

  • the primary role of AQP6 may be in cellular regulation (PMID:12177001)
  • Data have identified AQP6 s valuable markers for renal oncocytomas. (PMID:19680475)
  • Expression of AQP1, AQP4, or AQP6 mRNA did not differ in vestibular endorgans from patients with Meniere’s disease. (PMID:20461409)
  • AQP6 and AQP8 had different expression degrees in epithelial ovarian tissues, which suggests that AQP6 and AQP8 may play certain roles in epithelial ovarian tumors. (PMID:26779650)

Cross-species orthologs

14 orthologs

OrganismSymbolGene ID
danio_rerioaqp10aENSDARG00000007086
danio_rerioaqp9bENSDARG00000053480
danio_rerioaqp10bENSDARG00000058678
danio_rerioaqp8a.2ENSDARG00000071592
danio_rerioaqp8bENSDARG00000089749
mus_musculusAqp6ENSMUSG00000043144
rattus_norvegicusAqp6ENSRNOG00000063448
rattus_norvegicusENSRNOG00000076455
drosophila_melanogasterDripFBGN0015872
drosophila_melanogasterEglp1FBGN0034882
drosophila_melanogasterEglp2FBGN0034883
drosophila_melanogasterEglp3FBGN0034884
drosophila_melanogasterEglp4FBGN0034885
caenorhabditis_elegansWBGENE00000170

Paralogs (11): AQP8 (ENSG00000103375), AQP9 (ENSG00000103569), MIP (ENSG00000135517), AQP10 (ENSG00000143595), AQP5 (ENSG00000161798), AQP7 (ENSG00000165269), AQP3 (ENSG00000165272), AQP2 (ENSG00000167580), AQP4 (ENSG00000171885), AQP1 (ENSG00000240583), AQP7B (ENSG00000259916)

Protein

Protein identifiers

Aquaporin-6 — Q13520 (reviewed: Q13520)

Alternative names: Aquaporin-2-like, Kidney-specific aquaporin

All UniProt accessions (3): Q13520, F8VW87, Q9NSV5

UniProt curated annotations — full annotation on UniProt →

Function. Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient. Unlike classical aquaporins, AQP6 is an intracellular channel with selective anion permeability, particularly for nitrate, and exhibits very low water permeability. It may also facilitate the transport of gases, such as CO2 and NH4(+), as demonstrated in vitro.

Subunit / interactions. Homotetramer; each monomer provides an independent solute pore.

Subcellular location. Cytoplasmic vesicle membrane.

Domain organisation. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

Similarity. Belongs to the MIP/aquaporin (TC 1.A.8) family.

RefSeq proteins (1): NP_001643* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000425MIPFamily
IPR022357MIP_CSConserved_site
IPR023254Aquaporin_6Family
IPR023271Aquaporin-likeHomologous_superfamily
IPR034294Aquaporin_transptrFamily

Pfam: PF00230

Catalyzed reactions (Rhea), 8 shown:

  • NH4(+)(in) = NH4(+)(out) (RHEA:28747)
  • H2O(in) = H2O(out) (RHEA:29667)
  • chloride(in) = chloride(out) (RHEA:29823)
  • nitrate(in) = nitrate(out) (RHEA:34923)
  • Na(+)(in) = Na(+)(out) (RHEA:34963)
  • iodide(out) = iodide(in) (RHEA:66324)
  • CO2(out) = CO2(in) (RHEA:74891)
  • bromide(in) = bromide(out) (RHEA:75383)

UniProt features (27 total): topological domain 9, transmembrane region 6, sequence conflict 5, intramembrane region 2, short sequence motif 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q13520-F188.100.75

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-432047Passive transport by Aquaporins
R-HSA-382551Transport of small molecules
R-HSA-445717Aquaporin-mediated transport

MSigDB gene sets: 103 (showing top): ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_WATER_TRANSPORT, CCANNAGRKGGC_UNKNOWN, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, NKX62_Q2, GOBP_CHLORIDE_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, GOBP_GAS_TRANSPORT, GOBP_RENAL_WATER_HOMEOSTASIS, AAAGACA_MIR511, NKX25_01, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_REGULATION_OF_BODY_FLUID_LEVELS

GO Biological Process (10): renal water transport (GO:0003097), carbon dioxide transport (GO:0015670), nitrate transmembrane transport (GO:0015706), odontogenesis (GO:0042476), water transport (GO:0006833), carbon dioxide transmembrane transport (GO:0035378), transmembrane transport (GO:0055085), ammonium transmembrane transport (GO:0072488), monoatomic anion transmembrane transport (GO:0098656), chloride transmembrane transport (GO:1902476)

GO Molecular Function (8): monoatomic anion channel activity (GO:0005253), ammonium channel activity (GO:0008519), nitrate transmembrane transporter activity (GO:0015112), water channel activity (GO:0015250), carbon dioxide transmembrane transporter activity (GO:0035379), pH-gated chloride channel activity (GO:0061797), protein binding (GO:0005515), channel activity (GO:0015267)

GO Cellular Component (3): cytoplasmic vesicle membrane (GO:0030659), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Aquaporin-mediated transport1
Transport of small molecules1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transmembrane transport3
channel activity2
transmembrane transporter activity2
renal system process1
renal water homeostasis1
water transport1
gas transport1
one-carbon compound transport1
nitrate import1
animal organ morphogenesis1
fluid transport1
carbon dioxide transport1
transport1
cellular process1
nitrogen compound transport1
monoatomic anion transport1
monoatomic ion transmembrane transport1
chloride transport1
monoatomic anion transmembrane transport1
monoatomic ion channel activity1
monoatomic anion transmembrane transporter activity1
ammonium transmembrane transport1
nitrate transmembrane transport1
water transmembrane transporter activity1
carbon dioxide transmembrane transport1
chloride channel activity1
ligand-gated monoatomic anion channel activity1
pH-gated monoatomic ion channel activity1
binding1
passive transmembrane transporter activity1
vesicle membrane1
cytoplasmic vesicle1
cellular anatomical structure1
cytoplasm1
intracellular vesicle1

Protein interactions and networks

STRING

2473 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
AQP6AQP11Q8NBQ7888
AQP6AQP12AQ8IXF9888
AQP6AQP10Q96PS8886
AQP6AQP12BA6NM10587
AQP6CALM1P02593552
AQP6CALML6Q8TD86551
AQP6CALML3P27482551
AQP6CALML4Q96GE6551
AQP6CALML5Q9NZT1551
AQP6AQP3Q92482538
AQP6AQP7O14520510
AQP6RHBGQ9H310494
AQP6TMEM52BQ4KMG9478
AQP6BSNDQ8WZ55444
AQP6RPL3LQ92901425
AQP6UMODP07911425

IntAct

1033 interactions, top by confidence:

ABTypeScore
MS4A1AQP6psi-mi:“MI:0915”(physical association)0.560
CCDC167AQP6psi-mi:“MI:0915”(physical association)0.560
AQP6psi-mi:“MI:0915”(physical association)0.560
YIF1AAQP6psi-mi:“MI:0915”(physical association)0.560
ARL6IP6AQP6psi-mi:“MI:0915”(physical association)0.560
CNIH3AQP6psi-mi:“MI:0915”(physical association)0.560
SYNGR1AQP6psi-mi:“MI:0915”(physical association)0.560
LHFPL5AQP6psi-mi:“MI:0915”(physical association)0.560
C5AQP6psi-mi:“MI:0915”(physical association)0.560
NRACAQP6psi-mi:“MI:0915”(physical association)0.560
CYB5R3AQP6psi-mi:“MI:0915”(physical association)0.560
C2CD2LAQP6psi-mi:“MI:0915”(physical association)0.560
SLC66A2AQP6psi-mi:“MI:0915”(physical association)0.560
VTI1BAQP6psi-mi:“MI:0915”(physical association)0.560
STX7AQP6psi-mi:“MI:0915”(physical association)0.560
BET1AQP6psi-mi:“MI:0915”(physical association)0.560
ANKRD46AQP6psi-mi:“MI:0915”(physical association)0.560
INSIG2AQP6psi-mi:“MI:0915”(physical association)0.560
CXCL9AQP6psi-mi:“MI:0915”(physical association)0.560
PLLPAQP6psi-mi:“MI:0915”(physical association)0.560
CCL4L1AQP6psi-mi:“MI:0915”(physical association)0.560
EBPAQP6psi-mi:“MI:0915”(physical association)0.560
HMOX2AQP6psi-mi:“MI:0915”(physical association)0.560
TMEM65AQP6psi-mi:“MI:0915”(physical association)0.560
MFSD3AQP6psi-mi:“MI:0915”(physical association)0.560
SERP1AQP6psi-mi:“MI:0915”(physical association)0.560
VAMP1AQP6psi-mi:“MI:0915”(physical association)0.560
CCL22AQP6psi-mi:“MI:0915”(physical association)0.560
AQP6SLC25A46psi-mi:“MI:0915”(physical association)0.560
BRICD5AQP6psi-mi:“MI:0915”(physical association)0.560

BioGRID (344): AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid), AQP6 (Two-hybrid)

ESM2 similar proteins: A2IBY8, A4L9J0, A8W649, A9Y006, G5CTG2, G5CTG4, O43315, O62735, O77750, P06624, P09011, P29972, P29975, P30301, P34080, P41181, P47862, P47863, P47864, P47865, P50501, P51180, P55064, P55087, P55088, P56401, P56402, P56627, P79099, Q02013, Q06019, Q08DE6, Q13520, Q23808, Q5I4F9, Q5R819, Q6J8I9, Q6PQZ1, Q6RZ07, Q866S3

Diamond homologs: A0A125YZH9, A0A6M3QG69, A2IBY8, A4L9J0, F9UUD2, O64964, O68874, O82316, O94778, P06624, P09011, P25818, P28238, P30301, P50156, P51180, P55064, P56404, P56405, P60844, P60845, Q06019, Q0JPT5, Q13520, Q41963, Q5I4F8, Q651D5, Q6J8I9, Q6RZ07, Q6Z2T3, Q75GA5, Q7N5C1, Q7NNP3, Q7XLR1, Q84RL7, Q8GRI8, Q8X6K6, Q92R43, Q94CS9, Q9AR14

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 195 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane629.4×1e-05
Cargo concentration in the ER517.3×8e-04
COPII-mediated vesicle transport813.5×2e-05
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein510.7×6e-03
Asparagine N-linked glycosylation95.6×2e-03

GO biological processes:

GO termPartnersFoldFDR
vesicle fusion829.9×1e-07
obsolete vesicle docking628.6×2e-05
cholesterol biosynthetic process615.7×4e-04
endoplasmic reticulum unfolded protein response712.8×3e-04
endoplasmic reticulum to Golgi vesicle-mediated transport108.4×9e-05
female pregnancy67.8×9e-03
protein transport133.5×7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance40
Likely benign2
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

712 predictions. Top by Δscore:

VariantEffectΔscore
12:49974480:GGG:Gdonor_gain1.0000
12:49974481:GG:Gdonor_gain1.0000
12:49974481:GGG:Gdonor_gain1.0000
12:49974482:GG:Gdonor_gain1.0000
12:49974483:G:GGdonor_gain1.0000
12:49974483:GT:Gdonor_loss1.0000
12:49974743:CA:Cacceptor_loss1.0000
12:49974744:A:AGacceptor_gain1.0000
12:49974745:G:GGacceptor_gain1.0000
12:49974808:G:GTdonor_gain1.0000
12:49974808:G:Tdonor_gain1.0000
12:49974825:GG:Gdonor_gain1.0000
12:49974826:GG:Gdonor_gain1.0000
12:49973573:GTG:Gdonor_gain0.9900
12:49973575:GGTA:Gdonor_loss0.9900
12:49973576:G:Adonor_loss0.9900
12:49973576:G:GGdonor_gain0.9900
12:49973577:T:Adonor_loss0.9900
12:49974319:TCCA:Tacceptor_loss0.9900
12:49974323:G:GAacceptor_loss0.9900
12:49974478:TTGGG:Tdonor_gain0.9900
12:49974733:ACTT:Aacceptor_gain0.9900
12:49974734:C:Gacceptor_gain0.9900
12:49974745:GATCC:Gacceptor_gain0.9900
12:49974823:CTGGG:Cdonor_loss0.9900
12:49974824:TGGGT:Tdonor_loss0.9900
12:49974827:G:GAdonor_loss0.9900
12:49974827:G:GGdonor_gain0.9900
12:49974828:T:Adonor_loss0.9900
12:49974829:G:GTdonor_loss0.9900

AlphaMissense

1789 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:49974772:T:AN196K0.994
12:49974772:T:GN196K0.994
12:49975468:T:CF216L0.990
12:49975470:C:AF216L0.990
12:49975470:C:GF216L0.990
12:49973419:C:AN82K0.984
12:49973419:C:GN82K0.984
12:49973357:T:CF62L0.982
12:49973359:C:AF62L0.982
12:49973359:C:GF62L0.982
12:49974763:C:GC193W0.978
12:49975471:T:AW217R0.976
12:49975471:T:CW217R0.976
12:49974765:C:TS194F0.974
12:49973430:C:AT86K0.973
12:49974364:A:TE148V0.972
12:49974451:G:AG177E0.972
12:49974480:G:TG187W0.972
12:49974481:G:AG187E0.972
12:49973572:C:AN133K0.970
12:49973572:C:GN133K0.970
12:49974779:C:AR199S0.969
12:49974468:G:CG183R0.968
12:49974756:C:TT191I0.966
12:49974765:C:AS194Y0.966
12:49974789:G:AG202D0.966
12:49973430:C:GT86R0.965
12:49974777:C:AA198D0.965
12:49974780:G:CR199P0.965
12:49974783:C:TS200F0.965

dbSNP variants (sampled 300 via entrez): RS1000954142 (12:49972564 G>A), RS1003184002 (12:49976478 T>C), RS1004616008 (12:49977363 G>A), RS1004807769 (12:49971872 A>G), RS1006158804 (12:49972041 C>T), RS1006314499 (12:49975768 T>C), RS1006699288 (12:49973777 C>A,G,T), RS1006715286 (12:49976072 C>G,T), RS1007002443 (12:49977038 C>T), RS1007446374 (12:49976776 G>A), RS1007706802 (12:49975309 G>A,C), RS1009159796 (12:49972563 G>A,C), RS1009273498 (12:49973896 G>A,C), RS1009275705 (12:49972770 A>C), RS1009832215 (12:49972594 C>A,T)

Disease associations

OMIM: gene MIM:601383 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

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

13 total (human), top 13 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases mutagenesis2
aristolochic acid Iincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
sodium arsenitedecreases expression1
butyraldehydedecreases expression1
abrinedecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Cisplatinincreases expression1
Diazinonincreases methylation1
Fluorouracildecreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutionaffects expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 76

This page pulls from 76 datasets indexed by BioBTree:

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