Mar 30, 2025 · PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2 include Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease.

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions.

More than 75 mutations in the PKD2 gene have been identified in people with polycystic kidney disease. These mutations are responsible for about 15 percent of all cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of this disorder.

PKD2 was first identified as the pathogenic protein for autosomal dominant polycystic kidney disease (ADPKD) and is widely recognized as an ion channel. Subsequent studies have shown that PKD2 is widely expressed in various animal tissues and plays a crucial role in tissue and organ development.

Jul 1, 2022 · Autosomal Dominant polycystic kidney disease (ADPKD) is the most common inherited adult kidney disease. Although ADPKD is primarily caused by PKD1 and PKD2, the identification of several...

Aug 10, 2016 · PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort.

In PKD2- B-lymphoblastoid cells, transfection of a PKD2 full-length cDNA causes an increase in intracellular Ca2+ levels & cell proliferation. PC2 functions in a Ca2+ signaling context, which in turn modulates gene expression.

Polycystic kidney disease (PKD) is a genetic disorder that causes cysts to grow in the kidneys. Health complications include high blood pressure and kidney failure. Most people with PKD will eventually need dialysis or a kidney transplant. PKD affects about 500,000 people in the U.S.

Dec 20, 2017 · Protein kinase D2 (PKD2) is a serine/threonine kinase that belongs to the PKD family of calcium–calmodulin kinases, which comprises three isoforms: PKD1, PKD2, and PKD3. PKD2 is activated by...

May 31, 1996 · A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellula …