NPHS1

Chr 19q13.12

NPHS1 adhesion molecule, nephrin

Aliases:: CNF, NPHN
MANE:: ENST00000378910.10

OMIM: 602716 ↗NCBI: 4868 ↗Ensembl ↗

Annotations refreshed 7 hours ago.

Predicted protein structure

AlphaFold predicted structure

NPHS1 · O60500

v62025-08-01

Predicted Aligned Error matrix for NPHS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.3/ 100

Confident

1,241 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)44%
Low(50–70)4%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital nephrotic syndrome, Finnish type
0.86
nephrotic syndrome
0.70
dental enamel hypoplasia
0.55
tooth agenesis
0.52
focal segmental glomerulosclerosis
0.49
familial nephrotic syndrome
0.47
hereditary disease
0.47
glomerulonephritis
0.44
renal dialysis
0.43
dental caries
0.43

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nephrin

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)

Curated MONDO disease pages that list NPHS1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with NPHS1