NPHS2 Gene Summary [Human]
This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | NPHS2 |
| Official Name | NPHS2 stomatin family member, podocin [Source:HGNC Symbol;Acc:HGNC:13394] |
| Ensembl ID | ENSG00000116218 |
| Bio databases IDs | |
| Aliases | NPHS2 stomatin family member, podocin |
| Synonyms | AI790225, nephrosis 2, podocin, NPHS2 stomatin family member, podocin, PDCN, Podocin, SRN1 |
| 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 NPHS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPFH_like
- prohibitin homologues
- protein binding
- SPFH domain / Band 7 family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- autosomal recessive steroid-resistant nephrotic syndrome
- FOXO1 fusion positive rhabdomyosarcoma
- soft tissue sarcoma cancer
- sporadic focal segmental glomerulosclerosis
- idiopathic nephrotic syndrome
- hereditary disorder
- bleeding
- susceptibility to type 2 nephrotic syndrome
- renal failure
role in cell
- survival
- abnormal morphology
- effacement
- organization
- morphology
- organization in
- lack
- polarity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-insoluble membrane fraction
- raft fractions
- detergent resistant lipid raft fraction
- cell periphery
- cellular membrane
- intercellular junctions
- cytoplasmic face of plasma membrane
- membrane rafts
- membrane processes
- exosomes
- podocyte slit diaphragm
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPHS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glomerular filtration
- gene expression
- metanephric glomerular visceral epithelial cell development
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- slit diaphragm
- extracellular vesicular exosome
- cell-cell junction
- membrane raft
- endoplasmic reticulum
- macromolecular complex
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding