AQP2

Chr 12q13.12

aquaporin 2

MANE:: ENST00000199280.4

OMIM: 107777 ↗NCBI: 359 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

AQP2 · P41181

v62025-08-01

Predicted Aligned Error matrix for AQP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.8/ 100

Very high

271 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)11%
Low(50–70)9%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary isolated diabetes insipidus
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic nephrogenic diabetes insipidus
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial Meniere Disease
Diabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Multi-organ autoimmune diabetes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

diabetes insipidus, nephrogenic, autosomal
0.82
nephrogenic diabetes insipidus
0.70
neurodegenerative disease
0.43
diabetes insipidus
0.35
dermatophytosis
0.33
allergic rhinitis
0.29
fungal infectious disease
0.27
epilepsy
0.27
tinea pedis
0.27
Epidermal thickening
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Aquaporin-2

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:15509592, PubMed:7510718, PubMed:7524315, PubMed:8140421, PubMed:8584435). Plays an essential role in renal water homeostasis (PubMed:15509592, PubMed:7524315, PubMed:8140421). Could also be permeable to glycerol (PubMed:8584435)