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: 4868
MIM: 602716
HGNC: 7908
Ensembl: ENSG00000161270
Variants:
dbSNP: 4868
ClinVar: 4868
TCGA: ENSG00000161270
COSMIC: NPHS1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000161270 | ENST00000353632 | O60500 |
| ENSG00000161270 | ENST00000378910 | O60500 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell-Cell communication | REACTOME | R-HSA-1500931 |
| Nephrin interactions | REACTOME | R-HSA-373753 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444552 | Hypertension | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | ||
| PA450268 | losartan | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37495741 | 2024 | Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children. | 0 |
| 37495741 | 2024 | Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children. | 0 |
| 36834691 | 2023 | Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCδ Activation. | 1 |
| 36834691 | 2023 | Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCδ Activation. | 1 |
| 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 |
| 35747929 | 2022 | Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure. | 1 |
| 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 |
| 35747929 | 2022 | Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure. | 1 |
| 33591954 | 2021 | Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function. | 16 |
| 34555552 | 2021 | The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. | 1 |
| 34707724 | 2021 | Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study. | 5 |
| 35946274 | 2021 | Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome. | 0 |
| 33591954 | 2021 | Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function. | 16 |
| 34555552 | 2021 | The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. | 1 |
| 34707724 | 2021 | Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study. | 5 |
Citation
Dessen P
NPHS1 (NPHS1 adhesion molecule, nephrin)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56455/nphs1-(nphs1-adhesion-molecule-nephrin)
