NPHS2 Chromosome 1
NPHS2 stomatin family member, podocin
Upload your DNA to see your personal genotypes for variants in NPHS2.
What This Gene Does
This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Stomatin family
Locus Type
gene with protein product
Location
1q25.2
Ensembl
ENSG00000116218
Associated Conditions (16)
Prednisolone response
Nephrotic syndrome
type 2
Steroid-resistant nephrotic syndrome
Focal segmental glomerulosclerosis
NPHS2-related disorder
Proteinuria
Inborn genetic diseases
Finnish congenital nephrotic syndrome
Kidney disorder
Familial idiopathic steroid-resistant nephrotic syndrome
Idiopathic nephrotic syndrome
Ovarian serous cystadenocarcinoma
Chronic kidney disease
Nephrotic range proteinuria
See cases
Key Variants
RS878853211
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853212
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853213
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853214
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853215
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853216
drug response
Prednisolone response, Prednisolone response
Drug Response
RS1031744496
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
RS1053139144
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
RS1057516414
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS1183621605
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS12123397
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS139111416
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS762631237 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Nephrotic syndrome |
| RS763818901 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Idiopathic nephrotic syndrome |
| RS776016942 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Nephrotic syndrome |
| RS778055996 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome |
| RS780761368 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Idiopathic nephrotic syndrome |
| RS786204583 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Nephrotic syndrome |
| RS869025495 | Health Risk | Pathogenic/Likely pathogenic | Proteinuria, Nephrotic syndrome, type 2 |
| RS967339926 | Health Risk | Pathogenic/Likely pathogenic | Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome |