NPNT (Nephronectin)
Extracellular matrix protein involved in kidney development and integrin signaling
Gene Information Card
| Symbol | NPNT |
|---|---|
| Full Name | nephronectin |
| Gene Type | protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 255743 ncbi.nlm.nih.gov/gene/255743 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q6UXI9 |
| OMIM ID | 610289 |
| HGNC ID | 23377 |
| Aliases | POEM, MGC119173, MGC119175 |
Description
NPNT (nephronectin) encodes an extracellular matrix protein that contains an RGD (Arg-Gly-Asp) motif and mediates cell adhesion through binding to integrin alpha-8/beta-1. It plays a critical role in kidney development, particularly in the formation of the glomerular basement membrane and ureteric bud branching. NPNT is also expressed in other tissues and is implicated in osteoblast differentiation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 12 (NPHS12) | Loss-of-function mutations in NPNT disrupt glomerular basement membrane integrity, leading to proteinuria and kidney disease. | ClinVar, OMIM |
| Focal segmental glomerulosclerosis (FSGS) | Missense and nonsense variants in NPNT impair nephronectin secretion and integrin binding, contributing to podocyte dysfunction. | ClinVar, OMIM |
| Chronic kidney disease (CKD) | Common variants in NPNT have been associated with altered kidney function in genome-wide association studies. | NCBI Gene, GWAS Catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 1.2 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 15.2 | High expression; used for functional studies |
| A549 (lung carcinoma) | 9.7 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Ter) | Nonsense | Rare | Loss of function; associated with NPHS12 |
| c.1463G>A (p.Arg488Gln) | Missense | Rare | Impaired integrin binding; reported in FSGS |
| c.1A>G (p.Met1Val) | Missense | Rare | Start codon loss; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein or disrupt the RGD motif lead to loss of integrin-mediated adhesion and kidney developmental defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NPNT.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NPNT.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome R-HSA-354192)
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Development of ureteric bud (KEGG: hsa05200)
Protein Summary
Nephronectin is a secreted extracellular matrix protein of 581 amino acids (UniProt Q6UXI9). It contains an N-terminal signal peptide, an EGF-like domain, and a C-terminal RGD motif that mediates binding to integrin alpha-8/beta-1. The protein is essential for kidney development, particularly for glomerular basement membrane assembly and podocyte adhesion. Mutations in NPNT cause autosomal recessive nephrotic syndrome type 12.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPNT Knockout HEK293 Cell Line | EDJ-KQ2489 | Human | 255743 | Details Get a Quote |
| NPNT Knockout HCT 116 Cell Line | EDJ-KQ23077 | Human | 255743 | Details Get a Quote |
| NPNT Knockout HeLa Cell Line | EDJ-KQ23078 | Human | 255743 | Details Get a Quote |
| Npnt Knockout MC3T3-E1 Cell Line | EDJ-KZ371 | Mouse | 114249 | Details Get a Quote |
| NPNT Knockout A-549 Cell Line | EDJ-KQ67750 | Human | 255743 | Details Get a Quote |
