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AQP2 is found in the apical cell membranes of the kidney's collecting duct principal cells and in intracellular vesicles located throughout the cell.

AQP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAQP2, AQP-CD, WCH-CD, aquaporin 2
External IDsOMIM: 107777 MGI: 1096865 HomoloGene: 20137 GeneCards: AQP2
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for AQP2
Genomic location for AQP2
Band12q13.12Start49,950,741 bp[1]
End49,958,881 bp[1]
RNA expression pattern
PBB GE AQP2 206672 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000486

NM_009699

RefSeq (protein)

NP_000477

NP_033829

Location (UCSC)Chr 12: 49.95 – 49.96 MbChr 15: 99.58 – 99.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contents

RegulationEdit

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 significanceEdit

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 alsoEdit

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167580 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023013 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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. Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541.
  6. ^ 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 readingEdit

External linksEdit