Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7827
MIM: 604766
HGNC: 13394
Ensembl: ENSG00000116218
Variants:
dbSNP: 7827
ClinVar: 7827
TCGA: ENSG00000116218
COSMIC: NPHS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116218 | ENST00000367615 | Q9NP85 |
| ENSG00000116218 | ENST00000367616 | Q9NP85 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37670083 | 2024 | Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. | 0 |
| 37995908 | 2024 | A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome. | 0 |
| 37670083 | 2024 | Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. | 0 |
| 37995908 | 2024 | A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome. | 0 |
| 36167728 | 2023 | Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking. | 4 |
| 37014572 | 2023 | Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children. | 0 |
| 36167728 | 2023 | Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking. | 4 |
| 37014572 | 2023 | Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children. | 0 |
| 35099763 | 2022 | A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin. | 0 |
| 35278126 | 2022 | Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. | 2 |
| 35099763 | 2022 | A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin. | 0 |
| 35278126 | 2022 | Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. | 2 |
| 33305316 | 2021 | NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. | 1 |
| 33428103 | 2021 | Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation. | 1 |
| 34472785 | 2021 | A Study of the Risk Factors and Urinary Podocin as an Early Prognostic Indicator of Renal Injury in Diabetic Nephropathy. | 0 |
Citation
Dessen P
NPHS2 (NPHS2 stomatin family member, podocin)
Atlas Genet Cytogenet Oncol Haematol. 2015-03-01
Online version: http://atlasgeneticsoncology.org/gene/55634/nphs2-(nphs2-stomatin-family-member-podocin)
