Features include always present findings: Nephrotic syndrome and Protein in the urine (proteinuria); and common findings: Stage 5 chronic kidney disease. 7 total HPO annotations.

NPHS2 encodes NPHS2 stomatin family member, podocin (383 aa). Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton Highest expression in Kidney Cortex (175.0 TPM) and Kidney Medulla (22.9 TPM).

Nephrotic syndrome, type 2 is associated with mutations in the NPHS2 gene on chromosome 1.

The NPHS2 protein participates in Nephrin interacts with Podocin and Nephrin family interactions pathways.

NPHS2 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for NPHS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 2 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 common feature.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3. Research is primarily sponsored by academic and government institutions.

71 publications have been identified in PubMed for nephrotic syndrome, type 2. Research spans Basic Science / Preclinical (35%), Case Report / Case Series (15%), and Review / Meta-Analysis (14%).