AQP12A
Aquaporin 12A
Gene Information Card
| Symbol | AQP12A |
|---|---|
| Full Name | aquaporin 12A |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 375318 ncbi.nlm.nih.gov/gene/375318 |
| Ensembl ID | ENSG00000186103 |
| UniProt ID | Q8IXF9 |
| OMIM ID | 609789 |
| HGNC ID | 19941 |
| Aliases | AQP12, AQPX2 |
Description
AQP12A (aquaporin 12A) is a protein-coding gene belonging to the aquaporin family of water channels. It is specifically expressed in the pancreas and is involved in water transport across cell membranes, particularly in pancreatic acinar cells. The protein is localized to intracellular vesicles and may play a role in pancreatic fluid secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatitis | Altered water transport in pancreatic acinar cells may contribute to impaired secretion and inflammation | Limited evidence from expression studies; no direct disease association in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Testis | 0.8 | Low |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 5.2 | Pancreatic cancer cell line |
| AsPC-1 | 3.8 | Pancreatic adenocarcinoma cell line |
| MIA PaCa-2 | 4.1 | Pancreatic carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect; not reported in ClinVar or COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • water channel activity | • water transmembrane transporter activity |
| • integral component of membrane | • intracellular membrane-bounded organelle |
Pathways
• Transport of water across membranes
Protein Summary
Aquaporin 12A is a 295-amino acid protein with six transmembrane domains and two NPA (asparagine-proline-alanine) motifs characteristic of aquaporins. It functions as a water-selective channel and is predominantly expressed in pancreatic acinar cells, where it localizes to zymogen granules and may facilitate water movement during exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AQP12A Knockout HEK293 Cell Line | EDJ-KQ12402 | Human | 375318 | Details Get a Quote |
| AQP12A Knockout HeLa Cell Line | EDJ-KQ59920 | Human | 375318 | Details Get a Quote |
| AQP12A Knockout A-549 Cell Line | EDJ-KQ68382 | Human | 375318 | Details Get a Quote |
| AQP12A Knockout HCT 116 Cell Line | EDJ-KQ76761 | Human | 375318 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
