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NPHS2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NPHS2 gene

The NPHS2 gene provides instructions for making the protein podocin, which is essential for kidney filtration and is linked to congenital nephrotic syndrome.

Normal Function

The NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys within cells called podocytes, which are located in specialized kidney structures called glomeruli. Podocin is located at the cell surface in the area between two podocytes called the slit diaphragm.

The slit diaphragm acts as a filtration barrier, capturing proteins in the blood while allowing smaller molecules like sugars and salts to be excreted in urine. Podocin helps bring other proteins necessary for a functional slit diaphragm to the podocyte cell surface. It is also involved in cell signaling, helping the podocyte adapt to changes during the filtration process.

Health Conditions Related to Genetic Changes

Congenital nephrotic syndrome

At least 170 mutations in the NPHS2 gene have been found to cause congenital nephrotic syndrome, which is a frequent cause of this condition. These mutations typically change single amino acids in the podocin protein, resulting in a reduction or absence of functional protein. This impairs the formation of the slit diaphragm, causing molecules to pass through the kidneys abnormally and leading to end-stage renal disease by early childhood.

Other disorders

NPHS2 gene mutations can also cause infantile nephrotic syndrome, where symptoms appear between 4 and 12 months of age. While the features are similar to congenital nephrotic syndrome, they are often less severe, likely because the mutations have a less significant effect on podocin function.

Other Names for This Gene

  • nephrosis 2, idiopathic, steroid-resistant (podocin)
  • NPHS2 podocin
  • PDCN
  • podocin isoform 1
  • podocin isoform 2
  • SRN1

Frequently Asked Questions

Because the disease is usually steroid‑resistant, treatment focuses on controlling edema, hypertension, and proteinuria with diuretics, ACE inhibitors or ARBs, and a low‑protein diet. Anticoagulation may be needed if thrombosis risk is high. Many patients eventually require dialysis or a kidney transplant, which is the definitive therapy.
NPHS2 mutations are inherited in an autosomal recessive pattern. Both parents must carry one mutant allele for a child to be affected. Each sibling has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Prenatal or pre‑implantation genetic testing can identify affected embryos.
targeted next‑generation sequencing panel that includes NPHS2 is typically ordered. The test analyzes the DNA from a blood sample and identifies point mutations, small insertions or deletions that alter the podocin protein. If a pathogenic variant is found, it confirms the diagnosis and guides treatment decisions.
diet low in sodium (≤2 g/day) and protein (≈0.8 g/kg/day) helps reduce edema and protein loss. Adequate hydration, regular exercise, and avoiding nephrotoxic medications (NSAIDs, certain antibiotics) are also recommended. Monitoring blood pressure and lipid levels is essential.
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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