AQP11

protein-coding

aquaporin 11, the group of Aquaporins

Gene summary

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. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_173039.3

Inheritance

ClinVar variants

U:40B:7

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr11:77,589,391-77,610,356

External References & Databases

Ensembl (ENSG00000178301)

Transcript & Mutation Effects

hg38 • Region Span ~21.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

polycystic kidney diseaseNO_KNOWN

Inheritance Pattern: AR

Disease ID:MONDO:0020642

Submitter: Illumina

The AQP11 gene is located on chromosome 11 at 11q14 and encodes aquaporin 11, an atypical member of the aquaporin family of membrane water channels. Variants in this gene have not been linked to human disease, so this association is based on experimental evidence only. AQP11 is strongly expressed in the proximal tubules of the kidney and localizes to the cytoplasm, particularly the endoplasmic reticulum (16107722: Morishita et al. 2005; 24854278: Inoue et al. 2014). Homozygous AQP11 null mice as well as mice homozygous for an AQP11 missense variant develop polycystic kidneys, vacuolization of proximal tubule cells, and severe renal failure, recapitulating key features of polycystic kidney disease in humans (16107722: Morishita et al. 2005; 18701606: Tchekneva et al. 2008). Further studies of these animals suggest that ER stress, oxidative stress, and disrupted function of polycystin may play a role in the development of the disease, but the physiological functions of AQP11 remain incompletely understood (18606867: Okada et al. 2008; 23486012: Atochina-Vasserman et al. 2013; 24854278: Inoue et al. 2014) , summarized in Matsuzaki et al. (2017) (26798062). In summary, only experimental evidence is available to support this gene-disease association. Human genetic evidence is needed to support a causal role.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AQP11 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 41

not providedTotal: 5

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173039.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			39 clinvar	6 clinvar		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	7	0	47

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173039.3	RefSeq	NP_766627.1	3	MANE Select
ENST00000313578.4	Ensembl	ENSP00000318770.3	3	MANE Select
NM_001363477.2	RefSeq	NP_001350406.1	2	Standard
ENST00000878997.1	Ensembl	ENSP00000549056.1	2	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
aqp11	Danio rerio	Structure: whole organism Quality: curved ventral abnormal

Gene / Model

Organism

Observed Phenotype

aqp11

Danio rerio

Structure: whole organism

Quality: curved ventral

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Transport of small molecules
Passive transport by Aquaporins
Aquaporin-mediated transport

Biological Process

ion transport
water transport
glycerol transport
urea transport
endosomal lumen acidification

Molecular Function

molecular_function
channel activity

Cellular Component

cytoplasm
endoplasmic reticulum
cytosol
cell surface
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000313578
Coding exons: 3
Length: 20965
Individuals with no LoFs: 125682
Homozygous LoFs: 0
Heterozygous LoFs: 66
Defined: 125748
p: 0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.616	127	148	0.858	0.00000653	1745
Missense (PolyPhen)		47	54.32	0.86525		670
Synonymous	-0.120	67	65.8	1.02	0.00000303	569
Loss of Function	0.862	6	8.75	0.686	3.82e-7	93

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000095	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00037	0.00036	rare
South Asian	0.00066	0.00062	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO:0000250}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.548
RVIS EVS: 0.51
RVIS percentile EVS: 80.01

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00862

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium