AQP8

Chr 16

aquaporin 8

Also known as: AQP-8

NCBI Gene: 343ENSG00000103375UniProt: O94778

Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]

81
ClinVar variants
30
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— AQP8
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 44 VUS of 81 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.12LOEUF
pLI 0.000
Z-score 1.27
OE 0.60 (0.34–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.57Z-score
OE missense 0.87 (0.76–1.00)
142 obs / 162.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.60 (0.34–1.12)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.87 (0.76–1.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
0≤1.21.6
LoF obs/exp: 7 / 11.7Missense obs/exp: 142 / 162.3Syn Z: 0.67

ClinVar Variant Classifications

81 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic3
VUS44
Likely Benign4
Benign3
27
Pathogenic
3
Likely Pathogenic
44
VUS
4
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
3
0
3
VUS
0
41
3
0
44
Likely Benign
0
1
0
3
4
Benign
0
0
0
3
3
Total04233681

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AQP8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
AQUAPORIN 8; AQP8
MIM #603750 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Aquaporins in Urinary System.
Li Y et al.·Adv Exp Med Biol
2017Review
Expression of AQP5 and AQP8 in human colorectal carcinoma and their clinical significance.
Wang W et al.·World J Surg Oncol
2012
Expression of AQP6 and AQP8 in epithelial ovarian tumor.
Ma J et al.·J Mol Histol
2016
Aquaporins in Allergic Response: A New Player.
Villarreal AM et al.·Clin Rev Allergy Immunol
2025Review
[The clinical features and colonic epithelium AQP8 expression in diarrhea-irritable bowel syndrome].
Wang JP et al.·Zhonghua Nei Ke Za Zhi
2006
Association of AQP8 in women with PCOS.
Li Y et al.·Reprod Biomed Online
2013
Proteomic knowledge of human aquaporins.
Magni F et al.·Proteomics
2006Review
Meta-analysis of gene expression disease signatures in colonic biopsy tissue from patients with ulcerative colitis.
Linggi B et al.·Sci Rep
2021Meta-analysis
Aquaglyceroporins in the kidney: present state of knowledge and prospects.
Michalek K·J Physiol Pharmacol
2016Review
Prognostic values of aquaporins mRNA expression in human ovarian cancer.
Chetry M et al.·Biosci Rep
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Crohn DiseaseInflammatory Bowel Diseases (IBD)Ulcerative Colitis (Disorder)

Study of Tissue Repair in Inflammatory Bowel Disease Exploiting Organoid Technology

RECRUITING
NCT06805890Phase NAAssistance Publique Hopitaux De MarseilleStarted 2025-07-24
Colonoscopy - IBD inflamed tissueSurgical resection - IBD inflamed mucous membraneColonoscopy - biopsies in healthy tissue

External Resources

Links to major genomics databases and tools