AQP9

Chr 15

aquaporin 9

Also known as: AQP-9, HsT17287, SSC1, T17287

NCBI Gene: 366 ENSG00000103569 UniProt: O14520 OMIM: 602914

The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.66LOEUF

pLI 0.240

Z-score 2.36

OE 0.26 (0.12–0.66)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-1.21Z-score

OE missense 1.26 (1.13–1.42)

210 obs / 166.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.26 (0.12–0.66)

0≤0.351.4

Missense OE?1.26 (1.13–1.42)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 3 / 11.7Missense obs/exp: 210 / 166.1Syn Z: -1.26

Background carrier burden — how many people carry a rare variant somewhere in AQP9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

441 rare PASS variants

Rare truncating (LoF)

1 in 3,300

53 rare PASS variants

Rare synonymous (reference)

1 in 190

159 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AQP9. 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 200	1 in 3,200
South Asian	~43k	1 in 140	1 in 1,100
Remaining (unassigned)	~30k	1 in 100	1 in 3,400
European (Finnish)	~27k	1 in 410	1 in 3,300
Admixed American	~22k	1 in 110	≈ 1 in 5,600
African / African American	~21k	1 in 170	1 in 3,500
East Asian	~20k	1 in 150	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 240	none seen
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

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 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓