Alternative titles; symbols
HGNC Approved Gene Symbol: AQP12A
Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:240,691,866-240,698,483 (from NCBI)
Ishibashi et al. (2000) isolated human AQP12A, which they called AQPX2, from a pancreas cDNA library. Northern blot analysis detected a 1.5-kb AQP12A transcript only in human pancreas. RNA dot blot analysis of 71 human and mouse tissues showed AQP12A expression only in pancreas.
Using a rat EST with homology to AQP11 (609914) to screen human and mouse pancreas cDNA libraries, Itoh et al. (2005) identified AQP12A, which they designated AQP12. Human AQP12A encodes a deduced 295-amino acid protein with a calculated molecular mass of about 31 kD. The mouse and human AQP12A proteins share 72% sequence homology. Whereas typical members of the AQP family have 2 asparagine-proline-alanine (NPA) motifs, the human and mouse AQP12A proteins have 1 NPA motif and a variant asparagine-proline-threonine (NPT) motif. RNA dot blot analysis of multiple mouse tissues revealed expression only in the pancreas. In situ hybridization of mouse pancreas sections showed expression in the acinar cells, but not in the duct or islet cells. When expressed in Xenopus oocytes, AQP12A was retained in the cytoplasm and was not targeted to the plasma membrane. Transient transfection of EGFP-tagged AQP12A in HEK293 and COS-7 cells showed an intracellular granular staining pattern.
Ishibashi et al. (2000) determined that the AQP12A gene contains 5 exons.
By genomic sequence analysis, Ishibashi et al. (2000) mapped the AQP12A gene to chromosome 2. Morishita et al. (2005) stated that the human AQP12A gene maps to chromosome 2q34-q37.
Ishibashi, K., Kuwahara, M., Kageyama, Y., Sasaki, S., Suzuki, M., Imai, M. Molecular cloning of a new aquaporin superfamily in mammals: AQPX1 and AQPX2.In: Hohmann, S.; Nielsen, S. (eds.) : Molecular Biology and Physiology of Water and Solute Transport. New York: Kluwer Academic/Plenum Publishers 2000. Pp. 123-126.
Itoh, T., Rai, T., Kawahara, M., Ko, S.B.H., Uchida, S., Sasaki, S., Ishibashi, K. Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells. Biochem. Biophys. Res. Commun. 330: 832-838, 2005. [PubMed: 15809071] [Full Text: https://doi.org/10.1016/j.bbrc.2005.03.046]
Morishita, Y., Matsuzaki, T., Hara-chikuma, M., Andoo, A., Shimono, M., Matsuki, A., Kobayashi, K., Ikeda, M., Yamamoto, T., Verkman, A., Kusano, E., Ookawara, S., Takata, K., Sasaki, S., Ishibashi, K. Disruption of aquaporin-11 produces polycystic kidneys following vacuolization of the proximal tubule. Molec. Cell. Biol. 25: 7770-7779, 2005. [PubMed: 16107722] [Full Text: https://doi.org/10.1128/MCB.25.17.7770-7779.2005]