AQP12B
Aquaporin-12B: A water channel protein with potential roles in pancreatic function and disease
Gene Information Card
| Symbol | AQP12B |
|---|---|
| Full Name | aquaporin 12B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 653275 ncbi.nlm.nih.gov/gene/653275 |
| Ensembl ID | ENSG00000186141 |
| UniProt ID | A6NM10 |
| OMIM ID | 609789 |
| HGNC ID | 26938 |
| Aliases | AQP12, AQP12A |
Description
AQP12B (aquaporin 12B) is a protein-coding gene located on chromosome 2q37.3. It encodes a member of the aquaporin family of water channel proteins. AQP12B is specifically expressed in the pancreas and is thought to play a role in pancreatic fluid secretion. Mutations in this gene have been associated with pancreatic diseases, including chronic pancreatitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic pancreatitis | Altered water transport affecting pancreatic juice composition | ClinVar: pathogenic variants reported |
| Pancreatic cancer | Potential dysregulation of AQP12B expression | COSMIC: somatic mutations observed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Testis | 0.8 | Not detected |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 15.2 | Pancreatic cancer cell line |
| BxPC-3 | 10.8 | Pancreatic cancer cell line |
| MIA PaCa-2 | 8.5 | Pancreatic cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Reduced water permeability |
| c.245C>T | nonsense | 0.005% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • water channel activity | • transmembrane transport |
| • integral component of membrane |
Pathways
• Aquaporin-mediated transport
Protein Summary
AQP12B is a 295-amino acid water channel protein with six transmembrane domains and two NPA (asparagine-proline-alanine) motifs characteristic of aquaporins. It is primarily expressed in pancreatic acinar cells and facilitates water transport across cell membranes, contributing to pancreatic fluid secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP12B Knockout HEK293 Cell Line | EDJ-KQ11673 | Human | 653437 | Details Get a Quote |
| AQP12B Knockout HeLa Cell Line | EDJ-KQ60646 | Human | 653437 | Details Get a Quote |
| AQP12B Knockout A-549 Cell Line | EDJ-KQ69119 | Human | 653437 | Details Get a Quote |
| AQP12B Knockout HCT 116 Cell Line | EDJ-KQ77471 | Human | 653437 | Details Get a Quote |
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