NPHP4 Gene Summary [Human]
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Details
| Type | Retained Intron |
| Official Symbol | NPHP4 |
| Official Name | nephrocystin 4 [Source:HGNC Symbol;Acc:HGNC:19104] |
| Ensembl ID | ENSG00000131697 |
| Bio databases IDs | |
| Aliases | nephrocystin 4, nephroretinin, POC10 centriolar protein homolog (Chlamydomonas) |
| Synonyms | 4930564O18Rik, KIAA0673, nephrocystin 4, nephronophthisis 4 (juvenile) homolog (human), nmf192, POC10, SLSN4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NPHP4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nephronophthisis
- Senior-Loken syndrome 4
- kidney disease
- nephronophthisis type 4
- preeclampsia
- Behcet disease
- retinitis pigmentosa
- NPHP4-related disorder
- retinal dystrophy
- chronic kidney disease
role in cell
- motility
- cell death
- formation
- accumulation in
- assembly
- binding in
- tyrosine phosphorylation in
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- intracellular membrane-bounded organelle
- perinuclear region
- postsynaptic region
- basal bodies
- centrosome
- centriole
- intercellular junctions
- cytosol
- connecting cilia
- nucleoplasm
- nuclear bodies
- photoreceptor inner segments
- perikaryon
- ribbon synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPHP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of canonical Wnt receptor signaling pathway
- sperm motility
- retina development in camera-type eye
- signal transduction
- photoreceptor cell maintenance
- photoreceptor cell outer segment organization
- actin cytoskeleton organization
- visual behavior
Cellular Component
Where in the cell the gene product is active
- centrosome
- tight junction
- nuclear body
- cell-cell junction
- cilium basal body
- centriole
- intracellular membrane-bounded organelle
- cytosol
- ciliary transition zone
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural molecule activity