InterPro : IPR003915

Name  Polycystic kidney disease type 2 protein Short Name  PKD_2
Type  Family Description  Polycystic kidney diseases (PKD) are disorders characterised by largenumbers of cysts distributed throughout grossly-enlarged kidneys. Cystdevelopment is associated with impairment of kidney function, and ultimatelykidney failure and death []. Most cases of autosomal dominant PKD result from mutations in the PKD1 gene that cause premature protein termination. A second gene for autosomal dominant polycystic kidney disease has beenidentified by positional cloning []. The predicted 968-amino acid sequence of the PKD2 gene product (polycystin-2) contains 6 transmembrane domains, with intracellular N- and C-termini. Polycystin-2 shares some similarity with the family of voltage-activated calcium (and sodium) channels, and contains a potential calcium-binding domain.Polycystin-2 is strongly expressed in ovary, foetal and adult kidney, testis, and small intestine. Polycystin-1 requires the presence of this protein for stable expression and is believed to interact with it via its C terminus. All mutations between exons 1 and 11 result in a truncated polycystin-2 that lacks a calcium-binding EF-hand domain and the cytoplasmic domains required for the interaction of polycystin-2 with polycystin-1 []. PKD2, although clinically milder than PKD1, has a deleterious impact on life expectancy.
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Proteins

InterPro protein domain ID --> Contigs

Genes

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0 Child Features

1 Contains

Id Name Short Name Type
IPR013122 Polycystin cation channel, PKD1/PKD2 PKD1_2_channel Domain

0 Found In

0 Parent Features

3 Publications

First Author Title Year Journal Volume Pages
Ward CJ Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. 1996 Proc Natl Acad Sci U S A 93 1524-8
Mochizuki T PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 1996 Science 272 1339-42
Veldhuisen B A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 1997 Am J Hum Genet 61 547-55



To cite PlanMine, please refer to the following publication:

Brandl, H., Moon, H., Vila-Farré, M., Liu, S.-Y., Henry, I., & Rink, J. C.
PlanMine - a mineable resource of planarian biology and biodiversity.
Nucleic Acids Research, gkv1148. doi:10.1093/nar/gkv1148 (2015)