AQP11

Chr 11

aquaporin 11

Also known as: AQPX1

NCBI Gene: 282679 ENSG00000178301 UniProt: Q8NBQ7

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]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.35LOEUF

pLI 0.001

Z-score 0.86

OE 0.69 (0.37–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.62Z-score

OE missense 0.86 (0.74–0.99)

127 obs / 148.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.69 (0.37–1.35)

0≤0.351.4

Missense OE?0.86 (0.74–0.99)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 6 / 8.8Missense obs/exp: 127 / 148.1Syn Z: -0.12

Background carrier burden — how many people carry a rare variant somewhere in AQP11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

364 rare PASS variants

Rare truncating (LoF)

1 in 1,900

71 rare PASS variants

Rare synonymous (reference)

1 in 240

177 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AQP11. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 350	1 in 2,000
South Asian	~43k	1 in 360	1 in 1,100
Remaining (unassigned)	~30k	1 in 240	1 in 2,100
European (Finnish)	~27k	1 in 370	1 in 3,600
Admixed American	~22k	1 in 290	1 in 3,700
African / African American	~21k	1 in 220	1 in 1,500
East Asian	~20k	1 in 200	1 in 4,000
Ashkenazi Jewish	~13k	1 in 450	none seen
Middle Eastern	~2,884	1 in 480	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓