AQP5

Chr 12q13.12

aquaporin 5

MANE:: ENST00000293599.7

OMIM: 600442 ↗NCBI: 362 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AQP5 · P55064

v62025-08-01

Predicted Aligned Error matrix for AQP5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.3/ 100

Very high

265 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)2%
Low(50–70)8%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Meniere Disease

Disease associations (Open Targets)

Non-epidermolytic palmoplantar keratoderma
0.77
Palmoplantar keratoderma
0.37
epidermolytic palmoplantar keratoderma, 1
0.37
hereditary palmoplantar keratoderma
0.37
diffuse nonepidermolytic palmoplantar keratoderma
0.37
neoplasm
0.11
breast carcinoma
0.11
breast cancer
0.11
synovial sarcoma
0.10
gastric cancer
0.10

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

Protein function (UniProt)

Aquaporin-5

Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity)