Submission Details

The AQP11 gene is located on chromosome 11 at 11q14 and encodes aquaporin 11, an atypical member of the aquaporin family of membrane water channels. Variants in this gene have not been linked to human disease, so this association is based on experimental evidence only. AQP11 is strongly expressed in the proximal tubules of the kidney and localizes to the cytoplasm, particularly the endoplasmic reticulum (16107722: Morishita et al. 2005; 24854278: Inoue et al. 2014). Homozygous AQP11 null mice as well as mice homozygous for an AQP11 missense variant develop polycystic kidneys, vacuolization of proximal tubule cells, and severe renal failure, recapitulating key features of polycystic kidney disease in humans (16107722: Morishita et al. 2005; 18701606: Tchekneva et al. 2008). Further studies of these animals suggest that ER stress, oxidative stress, and disrupted function of polycystin may play a role in the development of the disease, but the physiological functions of AQP11 remain incompletely understood (18606867: Okada et al. 2008; 23486012: Atochina-Vasserman et al. 2013; 24854278: Inoue et al. 2014) , summarized in Matsuzaki et al. (2017) (26798062). In summary, only experimental evidence is available to support this gene-disease association. Human genetic evidence is needed to support a causal role.

PubMed IDs:

16107722 24854278 24854278 18701606

Assertion Criteria:

Click here to view assertion criteria

https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf

Submitter Submitted Date:

10/15/2020

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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