AQP5 Gene - Aquaporin 5
Water channel protein involved in fluid secretion and homeostasis
Gene Information Card
| Symbol | AQP5 |
|---|---|
| Full Name | Aquaporin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 362 ncbi.nlm.nih.gov/gene/362 |
| Ensembl ID | ENSG00000161798 |
| UniProt ID | P55064 |
| OMIM ID | 600442 |
| HGNC ID | 640 |
| Aliases | AQP-5, MGC133279 |
Description
AQP5 (Aquaporin 5) is a protein-coding gene that encodes a water channel protein primarily expressed in secretory glands (salivary, lacrimal, sweat), lung, and cornea. It facilitates rapid water transport across cell membranes, essential for fluid secretion and homeostasis. Mutations in AQP5 are associated with autosomal dominant non-syndromic congenital cataract and Sjögren syndrome. Altered expression is implicated in tumorigenesis and metastasis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (non-syndromic) | Missense mutations impair water channel function, leading to lens opacity | OMIM #600442; ClinVar |
| Sjögren syndrome | Reduced AQP5 expression in salivary and lacrimal glands contributes to dry mouth and dry eyes | NCBI Gene; PubMed |
| Lung adenocarcinoma | AQP5 overexpression promotes tumor cell migration and invasion | COSMIC; PubMed |
| Breast cancer | AQP5 upregulation associated with poor prognosis and metastasis | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 98.7 | High |
| Lung | 45.2 | Medium |
| Cornea | 32.1 | Medium |
| Trachea | 28.5 | Medium |
| Sweat gland | 22.3 | Medium |
| Kidney | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 12.4 | Moderate expression |
| MCF7 (breast cancer) | 8.9 | Low expression |
| HPAF-II (pancreatic) | 6.7 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.371A>G (p.Asn124Ser) | Missense | Rare | Reduced water permeability; associated with congenital cataract |
| c.559G>A (p.Gly187Arg) | Missense | Rare | Impaired trafficking to plasma membrane; cataract |
| c.637C>T (p.Arg213Trp) | Missense | Rare | Dominant negative effect; cataract |
| c.116T>C (p.Leu39Pro) | Missense | Rare | Loss of function; cataract |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Asn124Ser, p.Gly187Arg) reduce water channel activity or membrane localization, leading to cataract.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function in cell migration.
Dominant Negative (DN)
p.Arg213Trp exerts dominant negative effect by disrupting tetramer assembly.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity (GO:0015250) | • plasma membrane (GO:0005886) |
| • water transport (GO:0006833) | • transepithelial water transport (GO:0035377) |
| • protein binding (GO:0005515) |
Pathways
• Aquaporin-mediated transport (Reactome: R-HSA-445717)
• Water homeostasis (KEGG: hsa04976)
Protein Summary
Aquaporin 5 (AQP5) is a 265-amino acid integral membrane protein with six transmembrane domains, forming a water-selective pore. It assembles as homotetramers in the plasma membrane, each monomer functioning as an independent water channel. AQP5 is essential for fluid secretion in exocrine glands and lung. Post-translational modifications include phosphorylation and glycosylation, regulating trafficking and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP5 Knockout HEK293 Cell Line | EDJ-KQ4075 | Human | 362 | Details Get a Quote |
| AQP5 Knockout HeLa Cell Line | EDJ-KQ52647 | Human | 362 | Details Get a Quote |
| AQP5 Knockout A-549 Cell Line | EDJ-KQ61120 | Human | 362 | Details Get a Quote |
| AQP5 Knockout HCT 116 Cell Line | EDJ-KQ69607 | Human | 362 | Details Get a Quote |
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