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PKD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PKD2 gene

The PKD2 gene provides instructions for making the polycystin-2 protein, which plays a critical role in kidney function and the regulation of cell growth.

Overview

The PKD2 gene provides instructions for making a protein called polycystin-2. This protein is found in the kidneys before birth and in many adult tissues. Although its exact function is not well understood, polycystin-2 can be regulated by a larger, somewhat similar protein called polycystin-1.

Normal Function

Polycystin-2 likely functions as a channel spanning the cell membrane of kidney cells. In conjunction with polycystin-1, the channel transports positively charged atoms (ions), particularly calcium ions, into the cell. This influx of calcium ions triggers a cascade of chemical reactions inside the cell that may instruct the cell to undergo certain changes, such as maturing to take on specialized functions. Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells.

Polycystin-2 is also active in other parts of the cell, including cellular structures called primary cilia. These are tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe that primary cilia sense the movement of fluid through these tubules, which appears to help maintain the tubules' size and structure. The interaction of polycystin-1 and polycystin-2 in renal tubules promotes the normal development and function of the kidneys.

Health Conditions Related to Genetic Changes

Polycystic kidney disease

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.

  • Mutation types: Mutations include changes in single DNA building blocks (base pairs) and deletions or insertions of a small number of base pairs in the gene.
  • Protein impact: Most PKD2 mutations are predicted to result in the production of an abnormally small, nonfunctional version of the polycystin-2 protein.
  • Disease mechanism: While the exact process is under study, the lack of polycystin-2 likely disrupts its interaction with polycystin-1 and alters signaling within the cell and in primary cilia. This causes cells lining the renal tubules to grow and divide abnormally, leading to the growth of numerous cysts.

Other Names for This Gene

  • APKD2
  • Pc-2
  • PC2
  • PKD2_HUMAN
  • PKD4
  • polycystic kidney disease 2 (autosomal dominant)
  • polycystin-2
  • TRPP2

Frequently Asked Questions

PKD2 mutations generally lead to a slower progression of kidney disease. On average, kidney failure occurs about 10–15 years later than with PKD1 mutations, and many people maintain normal kidney function into their 60s or 70s. However, individual outcomes vary, so regular monitoring of kidney function is essential.
targeted sequencing panel for ADPKD genes, including PKD2, can identify pathogenic variants. Testing is recommended for anyone with a family history of ADPKD, unexplained cystic kidney disease, or hypertension before age 40. If a mutation is found, cascade testing for relatives can guide early intervention.
Yes. Maintaining a healthy blood pressure (ideally <130/80 mmHg), limiting sodium intake, staying hydrated, avoiding nephrotoxic medications (like NSAIDs), and regular exercise can help preserve kidney function. Regular check‑ups with a nephrologist for blood pressure and kidney function tests are also crucial.
Patients often notice mild abdominal discomfort, occasional blood in the urine, or high blood pressure before cysts become large enough to cause pain. Some may have a family history of kidney stones or urinary tract infections that recur more frequently. Early screening with ultrasound can detect cysts even when symptoms are minimal.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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