AQP2

aquaporin 2

Ensembl:
ENSG00000167580
UniProt:
P41181
OMIM:
107777

Cilia effects upon perturbation of AQP2

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
diabetes insipidus, nephrogenic, autosomal; nephrogenic diabetes insipidus

Subcellular localization

cilia, endosome, microtubules

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation

Function

AQP2 localizes to cilia and in a subapical compartment in cilia (+) cells and structural or functional loss of cilia leads to abnormal trafficking of AQP2/V2R leading to enhanced salt and water absorption(22205228).

Model organism evidence

Mus musculus (1 reference)

Shortening of primary cilia length is associated with urine concentration in the kidneys.

PMIDs: 37313611