| GENE NAME | NPHS2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000116218 |
| ENTREZ ID | 7827 |
| UNIPROT ACCESSION NUMBER | Q9NP85 |
| GO MOLECULAR FUNCTION | protein binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-373753; R-HSA-1500931 |
| 6 combinations linked to NPHS2 | OLI501; OLI256; OLI321; OLI257; OLI320; OLI255 |
| 5 variants linked to NPHS2 | NPHS2:c.623G>A, p.Arg229Gln; NPHS2:c.436delA, p.Arg146GlufsTer35; NPHS2:c.413G>A, p.Arg138Gln; NPHS2:c.622G>A, p.Ala208Thr; NPHS2:c.948delT, p.Ala317LeufsTer31 |
| 2 diseases linked to NPHS2 | Genetic steroid-resistant nephrotic syndrome; Congenital nephrotic syndrome |