Protein-coding gene in the species Homo sapiens
| AQP2 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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4OJ2, 4NEF |
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| Identifiers |
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| Aliases | AQP2, AQP-CD, WCH-CD, aquaporin 2, NDI2 |
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| External IDs | OMIM: 107777 MGI: 1096865 HomoloGene: 20137 GeneCards: AQP2 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 12 (human)[1] |
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| | Band | 12q13.12 | Start | 49,950,737 bp[1] |
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| End | 49,958,878 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 15 (mouse)[2] |
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| | Band | 15 F1|15 56.13 cM | Start | 99,476,936 bp[2] |
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| End | 99,482,428 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - renal medulla
- seminal vesicula
- kidney
- sperm
- kidney tubule
- glomerulus
- metanephric glomerulus
- corpus epididymis
- caput epididymis
- face
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| | Top expressed in | - kidney
- renal cortex
- proximal tubule
- metanephros
- medullary collecting duct
- testicle
- adrenal gland
- pancreas
- cortical collecting duct
- spermatocyte
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - transporter activity
- glycerol transmembrane transporter activity
- water transmembrane transporter activity
- water channel activity
- protein binding
- channel activity
| | Cellular component | - integral component of membrane
- recycling endosome
- Golgi apparatus
- membrane
- plasma membrane
- transport vesicle membrane
- basolateral plasma membrane
- apical plasma membrane
- extracellular exosome
- cytoplasmic vesicle membrane
- cytoplasmic vesicle
- integral component of plasma membrane
- lumenal side of membrane
| | Biological process | - cellular response to mercury ion
- excretion
- water transport
- ion transmembrane transport
- renal water transport
- renal water homeostasis
- cellular response to copper ion
- metanephric collecting duct development
- cellular response to water deprivation
- glycerol transport
- transport
- transmembrane transport
- protein homotetramerization
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 12: 49.95 – 49.96 Mb | Chr 15: 99.48 – 99.48 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Aquaporin-2 (AQP-2) is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell. It is encoded by the AQP2 gene.
Regulation
It is the only aquaporin regulated by vasopressin.[5] The basic job of aquaporin 2 is to reabsorb water from the urine while its being removed from the blood by the kidney. Aquaporin 2 is in kidney epithelial cells and usually lies dormant in intracellular vesicle membranes. When it is needed, vasopressin binds to the cell surface vasopressin receptor thereby activating a signaling pathway that causes the aquaporin 2 containing vesicles to fuse with the plasma membrane, so the aquaporin 2 can be used by the cell.[6] This aquaporin is regulated in two ways by the peptide hormone vasopressin:
- short-term regulation (minutes) through trafficking of AQP2 vesicles to the apical region where they fuse with the apical plasma membrane
- long-term regulation (days) through an increase in AQP2 gene expression.
This aquaporin is also regulated by food intake. Fasting reduces expression of this aquaporin independently of vasopressin.
Clinical significance
Mutations in this channel are associated with nephrogenic diabetes insipidus, which can be autosomal dominant or recessive. Mutations in the vasopressin receptor cause a similar X-linked phenotype.
Lithium, which is often used to treat bipolar disorder, can cause acquired diabetes insipidus (characterized by the excretion of large volumes of dilute urine) by decreasing the expression of the AQP2 gene.
The expression of the AQP2 gene is increased during conditions associated with water retention such as pregnancy and congestive heart failure.
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167580 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023013 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Dibas AI, Mia AJ, Yorio T (December 1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proceedings of the Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541. S2CID 28952956.
- ^ Lodish H, Berk A, Kaiser CA, Krieger M, Scott MP, Bretscher A, Ploegh H, Matsudaira P (2008). Molecular Cell Biology (6th ed.). New York: Freeman. p. 445. ISBN 978-0-7167-7601-7.
Further reading
- Bichet DG (April 2006). "Nephrogenic diabetes insipidus" (PDF). Advances in Chronic Kidney Disease. 13 (2): 96–104. doi:10.1053/j.ackd.2006.01.006. PMID 16580609. Archived from the original (PDF) on 2018-07-18.
- Bouley R, Hasler U, Lu HA, Nunes P, Brown D (May 2008). "Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus". Seminars in Nephrology. 28 (3): 266–78. doi:10.1016/j.semnephrol.2008.03.010. PMC 2494582. PMID 18519087.
- Robben JH, Knoers NV, Deen PM (August 2006). "Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus" (PDF). American Journal of Physiology. Renal Physiology. 291 (2): F257–70. doi:10.1152/ajprenal.00491.2005. hdl:2066/50267. PMID 16825342. S2CID 15392.
- Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K, Kuwahara M, Ikeuchi T, Inui K, Nakajima K (March 1994). "Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct". The Journal of Clinical Investigation. 93 (3): 1250–6. doi:10.1172/JCI117079. PMC 294077. PMID 7510718.
- Deen PM, Weghuis DO, Sinke RJ, Geurts van Kessel A, Wieringa B, van Os CH (1994). "Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12→q13". Cytogenetics and Cell Genetics. 66 (4): 260–2. doi:10.1159/000133707. PMID 7512890.
- Uchida S, Sasaki S, Fushimi K, Marumo F (September 1994). "Isolation of human aquaporin-CD gene". The Journal of Biological Chemistry. 269 (38): 23451–5. doi:10.1016/S0021-9258(17)31537-5. PMID 7522228.
- van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM (October 1994). "Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene". American Journal of Human Genetics. 55 (4): 648–52. PMC 1918308. PMID 7524315.
- Saito F, Sasaki S, Chepelinsky AB, Fushimi K, Marumo F, Ikeuchi T (1994). "Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH". Cytogenetics and Cell Genetics. 68 (1–2): 45–8. doi:10.1159/000133885. PMID 7525161.
- Nielsen S, Chou CL, Marples D, Christensen EI, Kishore BK, Knepper MA (February 1995). "Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane". Proceedings of the National Academy of Sciences of the United States of America. 92 (4): 1013–7. Bibcode:1995PNAS...92.1013N. doi:10.1073/pnas.92.4.1013. PMC 42627. PMID 7532304.
- Brown D (May 2003). "The ins and outs of aquaporin-2 trafficking". American Journal of Physiology. Renal Physiology. 284 (5): F893–901. doi:10.1152/ajprenal.00387.2002. PMID 12676734.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA (April 1994). "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine". Science. 264 (5155): 92–5. Bibcode:1994Sci...264...92D. doi:10.1126/science.8140421. PMID 8140421.
- Oksche A, Möller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W (November 1996). "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus". Human Genetics. 98 (5): 587–9. doi:10.1007/s004390050264. PMID 8882880. S2CID 27581991.
- Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM (February 1997). "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels". Journal of the American Society of Nephrology. 8 (2): 242–8. doi:10.1681/ASN.V82242. hdl:2066/24513. PMID 9048343.
- Ma T, Yang B, Umenishi F, Verkman AS (August 1997). "Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13". Genomics. 43 (3): 387–9. doi:10.1006/geno.1997.4836. PMID 9268644.
- Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ (October 1997). "Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response". Human Molecular Genetics. 6 (11): 1865–71. doi:10.1093/hmg/6.11.1865. PMID 9302264.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C (December 1997). "Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus". Journal of the American Society of Nephrology. 8 (12): 1855–62. doi:10.1681/ASN.V8121855. PMID 9402087.
- Kuwahara M (February 1998). "Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus". Internal Medicine. 37 (2): 215–7. doi:10.2169/internalmedicine.37.215. PMID 9550615.
- Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM (July 1998). "An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex". The Journal of Clinical Investigation. 102 (1): 57–66. doi:10.1172/JCI2605. PMC 509065. PMID 9649557.
- Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S (September 1998). "Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function". The Journal of Clinical Endocrinology and Metabolism. 83 (9): 3205–9. doi:10.1210/jcem.83.9.5074. PMID 9745427. S2CID 1074523.
- Saito T, Ishikawa S, Ito T, Oda H, Ando F, Higashiyama M, Nagasaka S, Hieda M, Saito T (June 1999). "Urinary excretion of aquaporin-2 water channel differentiates psychogenic polydipsia from central diabetes insipidus". The Journal of Clinical Endocrinology and Metabolism. 84 (6): 2235–7. doi:10.1210/jcem.84.6.5715. PMID 10372737.
External links
- GeneReviews/NCBI/NIH/UW entry on Nephrogenic Diabetes Insipidus
- Aquaporin+2 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human AQP2 genome location and AQP2 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: P41181 (Aquaporin-2) at the PDBe-KB.
