AQP6

Chr 12

aquaporin 6

Also known as: AQP2L, KID

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.09
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.016
Z-score 1.41
OE 0.48 (0.231.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.88 (0.771.01)
155 obs / 175.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.231.09)
00.351.4
Missense OE?0.88 (0.771.01)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 4 / 8.4Missense obs/exp: 155 / 175.5Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AQP6 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →