AQP10: Aquaporin 10 Gene
A water-selective channel expressed in the gastrointestinal tract
Gene Information Card
| Symbol | AQP10 |
|---|---|
| Full Name | aquaporin 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 89872 ncbi.nlm.nih.gov/gene/89872 |
| Ensembl ID | ENSG00000143595 |
| UniProt ID | Q96PS8 |
| OMIM ID | 606695 |
| HGNC ID | 16029 |
| Aliases | AQP10, AQP-10, aquaporin-10 |
Description
AQP10 (aquaporin 10) is a protein-coding gene located on chromosome 1q21.3. It encodes a water-selective channel protein belonging to the aquaporin family. AQP10 is primarily expressed in the gastrointestinal tract, particularly in the small intestine and colon, where it facilitates water transport across epithelial membranes. The gene is also expressed in other tissues such as the stomach and pancreas. AQP10 has been implicated in water homeostasis and may play a role in digestive physiology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital sucrase-isomaltase deficiency (CSID) | AQP10 mutations may alter water transport in the intestine, potentially contributing to osmotic diarrhea; however, direct evidence is limited. | ClinVar |
| Irritable bowel syndrome (IBS) | Altered AQP10 expression in intestinal epithelium may affect water absorption, contributing to diarrhea-predominant IBS. | NCBI Gene |
| Colorectal cancer | Downregulation of AQP10 in colorectal tumors may disrupt water balance and promote tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Colon | 8.3 | Medium |
| Stomach | 4.1 | Low |
| Pancreas | 2.7 | Low |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.2 | Colorectal adenocarcinoma cell line; high expression |
| HT-29 | 9.8 | Colorectal adenocarcinoma cell line; moderate expression |
| HCT 116 | 6.1 | Colorectal carcinoma cell line; low expression |
| MCF7 | 0.3 | Breast cancer cell line; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | p.Met1Val; may affect translation initiation |
| c.124G>A | missense | 0.02% | p.Gly42Ser; potential loss of function |
| c.637C>T | nonsense | 0.005% | p.Arg213*; premature stop, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt water channel activity or protein stability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • water transport | • channel activity |
| • transmembrane transport | • integral component of membrane |
Pathways
• Aquaporin-mediated water transport
• Transmembrane transport of small molecules
Protein Summary
Aquaporin-10 (AQP10) is a 301-amino acid water channel protein with six transmembrane domains and two NPA (asparagine-proline-alanine) motifs essential for water selectivity. It forms homotetramers in the plasma membrane and facilitates passive water movement along osmotic gradients. AQP10 is predominantly expressed in the apical membrane of intestinal epithelial cells, contributing to water absorption in the gut.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP10 Knockout HEK293 Cell Line | EDJ-KQ10529 | Human | 89872 | Details Get a Quote |
| AQP10 Knockout HeLa Cell Line | EDJ-KQ57747 | Human | 89872 | Details Get a Quote |
| AQP10 Knockout A-549 Cell Line | EDJ-KQ66242 | Human | 89872 | Details Get a Quote |
| AQP10 Knockout HCT 116 Cell Line | EDJ-KQ74663 | Human | 89872 | Details Get a Quote |
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