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NPHS2

NPHS2 stomatin family member, podocin
2 disorders 1 causative 1 untyped 1q25.2 gene with protein product
HGNC:13394MonarchNCBI Gene 7827ENSG00000116218UniProt Q9NP85OMIM 604766

Aliases: SRN1, PDCN.

Normal function · from ai-gene-review (Q9NP85, commit 79fe13b38970) · AI-generated, not KB evidence

Podocin is a critical scaffolding protein of the slit diaphragm in kidney podocytes. It belongs to the stomatin/band-7 protein family and contains a PHB (prohibitin homology) domain. Podocin adopts a hairpin-like membrane topology with both N- and C-termini facing the cytoplasm. It functions as a lipid raft organizer that recruits nephrin, neph1, CD2AP, and TRPC6 into specialized membrane microdomains at the slit diaphragm. Podocin binds cholesterol through its PHB domain and regulates mechanosensitive TRPC6 channel activity. It serves as an essential linker between slit diaphragm components and the actin cytoskeleton. Mutations in NPHS2 cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis, demonstrating its crucial role in glomerular filtration barrier function.

Podocin functions as a scaffolding protein at the slit diaphragm, organizing lipid raft microdomains and recruiting key proteins including nephrin, neph1, CD2AP, and TRPC6 into functional complexes. It does not have enzymatic activity but serves as a structural organizer essential for slit diaphragm assembly.
molecular function: structural molecule activity · directly involved in: glomerular filtration · locations: slit diaphragm; plasma membrane; membrane raft
Podocin directly binds cholesterol through its PHB domain. This cholesterol binding is essential for organizing lipid raft microdomains and regulating TRPC6 channel activity.
molecular function: cholesterol binding · directly involved in: glomerular filtration · locations: membrane raft
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Focal Segmental Glomerulosclerosis causative
mechanism: Glomerular Filtration Barrier Dysfunction
scoped to subtype: Genetic FSGS
Minimal Change Disease untyped
Alternative monogenic podocytopathy marker in steroid-resistant disease
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.