Protein Domain : IPR003915

Type:  Family Name:  Polycystic kidney disease type 2 protein
Description:  Polycystic kidney diseases (PKD) are disorders characterised by large numbers of cysts distributed throughout grossly-enlarged kidneys. Cystdevelopment is associated with impairment of kidney function, and ultimately kidney 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 been identified 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. Short Name:  PKD_2
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0 Child Features

1 Contains

DB identifier Type Name
IPR013122 Domain Polycystin cation channel, PKD1/PKD2

1 Cross References

Identifier
PR01433

0 Found In

2 GO Annotations

GO Term Gene Name
GO:0005509 IPR003915
GO:0016020 IPR003915

2 Ontology Annotations

GO Term Gene Name
GO:0005509 IPR003915
GO:0016020 IPR003915

0 Parent Features

5 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
32293 C1MLS9 PAC:27347321 Micromonas pusilla CCMP1545 1405  
28283 A4S9Q8 PAC:27419059 Ostreococcus lucimarinus 1742  
Cre07.g333535.t1.1 A0A2K3DK32 PAC:30775361 Chlamydomonas reinhardtii 2803  
Cz08g19170.t1 PAC:38244841 Chromochloris zofingiensis 1003  
Manes.06G036550.1.p PAC:50266008 Manihot esculenta 135  

3 Publications

First Author Title Year Journal Volume Pages PubMed ID
            8643665
            8650545
            9326320