PKD2

  • OMIM: 173910
  • UniProt: Q13563
  • MGI: 1099818

Polycystin -2 ( PKD -2 ) is a glycoprotein, which is encoded in the body of many vertebrates from the PKD2 gene. It plays an important role in the disease cystic kidney.

Construction

Polycystin - 2 consists of 968 amino acids and has a molecular mass of about 110 kDa. The structure of polycystin -2 can be broken down as follows:

  • An intracellular N-terminal region
  • Six transmembrane domains
  • A calcium-binding region (EF - hand)
  • An intracellular C-terminal region

There is a high degree of sequence similarity with polycystin -1 and the family of voltage-dependent calcium channels.

Function

Interact with the C -termini of polycystin -1 and polycystin -2. Polycystin - 2 functions in this interaction as a cation channel which is preferably calcium ions, and this is obviously regulated by polycystin -1.

Genetics

Polycystin -2 (autosomal dominant) polycystic kidney disease 2 () encoded in humans by the PKD2 gene on chromosome 4 locus q21 - q23.

Human Genome Organisation Mouse Genome Informatics Entrez Ensembl National Center for Biotechnology Information EF-Hand Science (journal)
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