NPHP4 Gene - Nephrocystin-4
Key player in nephronophthisis and ciliary function
Gene Information Card
| Symbol | NPHP4 |
|---|---|
| Full Name | Nephrocystin-4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 261734 ncbi.nlm.nih.gov/gene/261734 |
| Ensembl ID | ENSG00000131697 |
| UniProt ID | O75161 |
| OMIM ID | 607215 |
| HGNC ID | 19104 |
| Aliases | SLSN4, POC10, nephroretinin |
Description
NPHP4 encodes nephrocystin-4, a protein involved in the assembly and function of primary cilia. It interacts with other nephrocystins and is essential for renal epithelial cell integrity. Mutations in NPHP4 cause nephronophthisis type 4, a ciliopathy leading to kidney fibrosis and end-stage renal disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 4 | Loss of ciliary function due to disrupted nephrocystin complex | ClinVar, OMIM |
| Senior-Løken syndrome 4 | Defective ciliary signaling in renal and retinal cells | OMIM |
| Joubert syndrome | Impaired ciliogenesis and cerebellar development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3523C>T (p.Arg1175*) | Nonsense | Rare | Premature truncation, loss of function |
| c.2146_2147del (p.Val716fs) | Frameshift | Rare | Loss of protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most NPHP4 mutations are loss-of-function, leading to truncated or absent nephrocystin-4, disrupting ciliary function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Protein binding |
| • Cell projection organization | • Cytoskeleton |
Pathways
• Ciliopathy pathway
• Hedgehog signaling
• Wnt signaling
Protein Summary
Nephrocystin-4 is a 1426-amino acid protein containing a coiled-coil domain and multiple phosphorylation sites. It localizes to the primary cilium and centrosome, interacting with NPHP1, NPHP3, and inversin to regulate ciliary transport and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPHP4 Knockout HEK293 Cell Line | EDJ-KQ14463 | Human | 261734 | Details Get a Quote |
| NPHP4 Knockout A-549 Cell Line | EDJ-KQ44699 | Human | 261734 | Details Get a Quote |
| NPHP4 Knockout HCT 116 Cell Line | EDJ-KQ44700 | Human | 261734 | Details Get a Quote |
| NPHP4 Knockout HeLa Cell Line | EDJ-KQ43445 | Human | 261734 | Details Get a Quote |
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