Aquaporin 2

 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 IDsOMIM107777 MGI1096865 HomoloGene20137 GeneCardsAQP2
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

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.

This article uses material from the Wikipedia article
 Metasyntactic variable, which is released under the 
Creative Commons
Attribution-ShareAlike 3.0 Unported License
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