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Tbio
NPHS1
Nephrin

Protein Summary
Description
Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity). This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000353632
  • ENSP00000343634
  • ENSG00000161270
  • ENST00000378910
  • ENSP00000368190

Symbol
  • NPHN
  • CNF
  • NPHN
  • nephrin
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.97
biological term
0.78
gene perturbation
0.76
disease
0.65
hub protein
0.63


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 979.15   (req: < 5)
Gene RIFs: 108   (req: <= 3)
Antibodies: 708   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 979.15   (req: >= 5)
Gene RIFs: 108   (req: > 3)
Antibodies: 708   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.9
95.8
vitamin D measurement
2
1
2
84.7
thrombomodulin measurement
1
1
1
60.1
1
1
1
15.9
urinary metabolite measurement
1
1
1
15.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.9
95.8
vitamin D measurement
2
84.7
thrombomodulin measurement
1
60.1
1
15.9
urinary metabolite measurement
1
15.9
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
NPHS1, nephrin
VGNC:7563
468841
Macaque
NPHS1, nephrin
718929
Mouse
MGI:1859637
54631
Rat
RGD:620460
64563
Dog
NPHS1, nephrin
VGNC:49930
484571
Species
Name
OMA
EggNOG
Inparanoid
Chimp
NPHS1, nephrin
Macaque
NPHS1, nephrin
Mouse
Rat
Dog
NPHS1, nephrin
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O60500-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (4)
Cell-Cell communication (R-HSA-1500931)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell-Cell communication
Reactome
Nephrin family interactions
Name
Explore in Pharos
Explore in Source
Cell-Cell communication
Nephrin family interactions
Gene Ontology Terms (16)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (146)
1 – 10 of 146
NPHS2
Tbio
Novelty: 0.00212981
Score: 0.998
Data Source: Reactome,STRINGDB
CD2AP
Tbio
Novelty: 0.00603034
Score: 0.997
Data Source: Reactome,STRINGDB
KIRREL1
Tbio
Novelty: 0.03216031
Score: 0.99
Data Source: Reactome,STRINGDB
NCK1
Tbio
Novelty: 0.00352084
Score: 0.988
Data Source: Reactome,STRINGDB
FYN
Tclin
Family: Kinase
Novelty: 0.00072167
Score: 0.986
Data Source: Reactome,STRINGDB
KIRREL3
Tbio
Novelty: 0.02717681
Score: 0.985
Data Source: Reactome,STRINGDB
TRPC6
Tchem
Family: IC
Novelty: 0.00118598
Score: 0.984
Data Source: STRINGDB
ACTN4
Tbio
Novelty: 0.0040236
Score: 0.98
Data Source: Reactome,STRINGDB
IQGAP1
Tbio
Family: Enzyme
Novelty: 0.00434481
Score: 0.976
Data Source: Reactome,STRINGDB
TJP1
Tbio
Novelty: 0.00040365
Score: 0.968
Data Source: STRINGDB
Publication Statistics
PubMed Score  979.15

PubMed score by year
PubTator Score  783.38

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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