Protein Summary
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]
- ENST00000353632
- ENSP00000343634
- ENSG00000161270
- ENST00000378910
- ENSP00000368190
- NPHN
- CNF
- NPHN
- nephrin
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 | ||
Protein Classes
IDG Development Level Summary
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: 1004.92 (req: < 5)
Gene RIFs: 108 (req: <= 3)
Antibodies: 708 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 1004.92 (req: >= 5)
Gene RIFs: 108 (req: > 3)
Antibodies: 708 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 11
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (146)
Nearest Tclin Targets
Pathways (4)
Reactome (2)
PathwayCommons (1)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (16)
Functions (1)
Components (5)
Processes (10)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Physical Interaction (IPI) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (10)
Items per page:
1 – 5 of 10
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
1 | 1 | 0 | 1.9 | 78.5 | |||||
creatinine measurement | 1 | 1 | 1 | 66.8 | |||||
red blood cell distribution width | 1 | 1 | 1 | 64.9 | |||||
thrombomodulin measurement | 1 | 1 | 1 | 64 | |||||
glomerular filtration rate | 1 | 1 | 1 | 62.8 | |||||
Items per page:
1 – 5 of 10
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
0 | 1.9 | 78.5 | |||||
creatinine measurement | 1 | 66.8 | |||||
red blood cell distribution width | 1 | 64.9 | |||||
thrombomodulin measurement | 1 | 64 | |||||
glomerular filtration rate | 1 | 62.8 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 1004.92
PubMed score by year
PubTator Score 783.38
PubTator score by year
Related Publications
Text Mined References (134)
GeneRif Annotations (108)
Items per page:
0 of 0
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