Seroatlas · Human Serome Atlas

NPHS2

Podocin

Also known as: PDCN, PODO_HUMAN, SRN1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NP85
Gene
NPHS2
Ensembl
ENSG00000116218
Chromosome
1
Canonical length
383 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

383 residues, UniProt reviewed canonical sequence.

>Q9NP85|NPHS2
     1  MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR AGTPGEPRAP
    61  AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA CEWLLVLISL LFIIMTFPFS
   121  IWFCVKVVQE YERVIIFRLG HLLPGRAKGP GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV
   181  TKDMFIMEID AICYYRMENA SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS
   241  IAQDAKVALD SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA
   301  ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL SSPSNRTQGS
   361  LPFPSPSKPV EPLNPKKKDS PML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPHS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
245 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 245 nTPM
  • testis: 1.6 nTPM
  • duodenum: 0.4 nTPM
  • urinary bladder: 0.4 nTPM
  • pituitary gland: 0.2 nTPM
  • colon: 0.1 nTPM

Single-cell type

  • podocytes: 2,017 nCPM
  • early spermatids: 17 nCPM
  • prostatic club cells: 4.8 nCPM
  • late spermatids: 4.7 nCPM
  • proximal tubule cells: 4.1 nCPM
  • renal connecting tubule cells: 3.5 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 0.2 nTPM
  • pons: 0.2 nTPM
  • medulla oblongata: 0.1 nTPM
  • midbrain: 0.1 nTPM
  • spinal cord: 0.1 nTPM
  • thalamus: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPHS2.

Disease | AllUniProt

Conditions NPHS2 is implicated in, by any mechanism.

Disease | GeneticClinVar

159 pathogenic / likely-pathogenic of 625 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.18
gnomAD pLI
0
gnomAD missense Z
0.69
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NPHS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NPHS2 as an antibody target. Whether an autoantibody or antibody against NPHS2 could matter depends on whether native NPHS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NPHS2 is annotated at the cell surface, where native NPHS2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NPHS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NPHS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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