Affinage

NPHS2

Podocin · UniProt Q9NP85

Length
383 aa
Mass
42.2 kDa
Annotated
2026-06-10
100 papers in source corpus 13 papers cited in narrative 13 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NPHS2 encodes podocin, a stomatin-family integral membrane protein almost exclusively expressed in kidney glomerular podocytes, where it was identified by positional cloning as the causative gene for autosomal recessive steroid-resistant nephrotic syndrome (PMID:10742096). Podocin forms homo-oligomers through both its amino- and carboxy-terminal cytoplasmic domains and partitions into plasma-membrane lipid raft microdomains, where it directly binds nephrin and recruits it into rafts to support nephrin signaling (PMID:14570703, PMID:15496146). Through this scaffolding function podocin organizes the slit diaphragm complex, and loss of functional podocin secondarily redistributes nephrin, CD2AP, and alpha-actinin away from the glomerular basement membrane (PMID:15327385). Podocin matures through the classical exocytic secretory pathway, and the dominant disease mechanism is mistrafficking: most pathogenic missense mutations cause ER retention (e.g. R138Q, P118L) or accumulation in other compartments such as the Golgi (R168H, R291W) or cytoplasmic inclusions (V180M), reducing podocin levels and disrupting nephrin trafficking, with ER-retained mutants associated with earlier disease onset (PMID:14675423, PMID:15496146, PMID:36167728). The common R229Q variant reduces nephrin binding and is pathogenic only when trans-associated with specific C-terminal (residue 270–351) mutations that exert a dominant-negative effect via altered heterodimerization and mislocalization (PMID:12464671, PMID:24509478). Podocin transcription is directly controlled in podocytes by WT1, Lmx1b, and USF1 acting on its promoter (PMID:25556170, PMID:16900088, PMID:19562271).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2000 High

    Established the gene underlying autosomal recessive steroid-resistant nephrotic syndrome, defining podocin as a podocyte-specific stomatin-family membrane protein and creating the molecular entry point for slit diaphragm biology.

    Evidence Positional cloning with segregating nonsense, frameshift, and missense mutations; expression analysis in fetal and mature glomeruli

    PMID:10742096

    Open questions at the time
    • Molecular function and binding partners not yet defined
    • Subcellular localization within podocytes not yet resolved
  2. 2002 Medium

    Provided in vivo genetic evidence that nephrin and podocin functionally interact, by showing a tri-allelic NPHS1/NPHS2 combination shifts congenital nephrotic syndrome to congenital FSGS.

    Evidence Mutational analysis and genotype-phenotype epistasis in human patient families

    PMID:11854170

    Open questions at the time
    • Interaction inferred from genetics, not biochemical reconstitution
    • Does not localize where the interaction occurs
  3. 2002 Medium

    Gave the first biochemical rationale for R229Q as an FSGS susceptibility allele by demonstrating it reduces podocin-nephrin binding.

    Evidence In vitro translation of podocin and pulldown with purified nephrin

    PMID:12464671

    Open questions at the time
    • Single in vitro method, single lab
    • Does not explain conditional pathogenicity later shown to depend on trans alleles
  4. 2003 High

    Defined podocin's molecular mechanism: homo-oligomerization and recruitment of nephrin into lipid rafts to enable nephrin signaling, and showed how distinct mutations fail at different steps.

    Evidence Lipid raft fractionation, co-IP, confocal microscopy, and mutagenesis in transfected cell lines

    PMID:14570703

    Open questions at the time
    • Raft recruitment shown in cell lines, not native podocytes
    • Nature of nephrin signaling augmented by podocin not detailed
  5. 2004 High

    Established that podocin matures via the classical secretory pathway and that mistrafficking is the unifying disease mechanism, with a genotype-phenotype link between ER retention and earlier onset.

    Evidence Brefeldin A treatment, confocal microscopy and fractionation across 12 disease mutations with clinical correlation

    PMID:14675423

    Open questions at the time
    • Trafficking quality-control machinery handling mutants not identified
    • Why one mutant routes to late endosomes vs ER unexplained
  6. 2004 High

    Linked specific C-terminal missense mutants to distinct mislocalization patterns and showed mistrafficked podocin drags nephrin away from the membrane via direct binding.

    Evidence Site-directed mutagenesis, confocal, co-IP and pulldown in HEK293 cells

    PMID:15496146

    Open questions at the time
    • Structural basis of differential mislocalization not resolved
    • Done in heterologous cells rather than podocytes
  7. 2004 Medium

    Confirmed in patient tissue that podocin defects secondarily disorganize the slit diaphragm complex, supporting podocin's scaffolding role for nephrin, CD2AP and alpha-actinin.

    Evidence Immunohistochemistry and in situ hybridization on patient renal biopsies with defined NPHS2 mutations

    PMID:15327385

    Open questions at the time
    • Correlative biopsy data, single lab
    • Direct CD2AP/alpha-actinin binding not biochemically demonstrated here
  8. 2006 Medium

    Identified functional promoter polymorphisms that downregulate NPHS2 and named USF1 as a trans-acting factor controlling its expression.

    Evidence Reporter transfection in podocytes, EMSA, and USF1 RNAi silencing

    PMID:16900088

    Open questions at the time
    • USF1 contribution in vivo not tested
    • Single lab
  9. 2009 Medium

    Showed Lmx1b acts as a transcriptional enhancer of NPHS2 via a FLAT-F promoter element, extending the regulatory network.

    Evidence Reporter constructs and EMSA in podocytes

    PMID:19562271

    Open questions at the time
    • In vivo requirement for the FLAT-F element not established
    • Two methods, single lab
  10. 2014 High

    Resolved the conditional pathogenicity of R229Q by showing it causes disease only in trans with specific 3' mutations that act dominant-negatively through altered heterodimerization and mislocalization.

    Evidence Clinical genetics in large cohort plus heterodimerization assays, localization studies and structural modeling

    PMID:24509478

    Open questions at the time
    • Structural detail of the altered heterodimer interface not fully defined
    • Boundary of pathogenic 3' mutation set may be incomplete
  11. 2015 High

    Placed NPHS2 in the podocyte transcriptional program as a direct WT1 target, connecting it to master podocyte gene regulation.

    Evidence ChIP-seq with transcriptomics in Nphs2-Cre conditional WT1 knockout mice and zebrafish functional validation

    PMID:25556170

    Open questions at the time
    • Interplay of WT1 with USF1/Lmx1b at the locus not integrated
    • Direct enhancer occupancy element not mapped here
  12. 2016 Medium

    Provided a candidate dominant disease allele, a truncating mutation producing podocin that still binds nephrin yet is associated with fragmented nephrin and reduced podocin in vivo.

    Evidence Co-IP, immunohistochemistry, and whole genome/direct sequencing in a single family

    PMID:27573339

    Open questions at the time
    • Single Co-IP, single family
    • Dominant mechanism not reconstituted experimentally
  13. 2022 High

    Demonstrated in a human podocyte organoid system that endogenous NPHS2 variants cause variant-specific mistrafficking (ER vs Golgi), reduced podocin protein, impaired nephrin trafficking, and podocyte apoptosis independent of ER stress.

    Evidence iPSC-derived kidney organoids with endogenous patient variants, immunofluorescence, transcriptional profiling, and nephrin-podocin colocalization assays

    PMID:36167728

    Open questions at the time
    • Apoptosis trigger downstream of mistrafficking not identified
    • Mechanism of protein reduction without transcriptional loss unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How mistrafficked podocin triggers podocyte death and how the WT1/Lmx1b/USF1 regulatory inputs are integrated at the NPHS2 locus remain unresolved.
  • No defined cell-death pathway linking podocin mislocalization to apoptosis
  • Quality-control machinery degrading mutant podocin not identified
  • Combined regulation by WT1, Lmx1b and USF1 not modeled together

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0008289 lipid binding 1
Localization
GO:0005783 endoplasmic reticulum 3 GO:0005886 plasma membrane 2 GO:0005794 Golgi apparatus 1
Pathway
R-HSA-74160 Gene expression (Transcription) 3 R-HSA-9609507 Protein localization 3
Partners
ACTN4CD2APLMX1BNPHS1USF1WT1
Complex memberships
slit diaphragm

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2000 NPHS2 encodes podocin, a novel integral membrane protein belonging to the stomatin protein family, almost exclusively expressed in podocytes of fetal and mature kidney glomeruli, identified by positional cloning as the causative gene for autosomal recessive steroid-resistant nephrotic syndrome. Positional cloning, sequence analysis, expression analysis Nature genetics High 10742096
2003 Wild-type podocin forms homo-oligomers involving both carboxy and amino terminal cytoplasmic domains, and is targeted to plasma membrane lipid raft microdomains where it recruits nephrin into rafts. Disease-causing mutations R138Q and R138X fail to recruit nephrin into rafts: R138Q is retained in the endoplasmic reticulum, while R138X reaches the plasma membrane but fails to associate with rafts. Neither mutant augments nephrin signaling. Confocal microscopy, lipid raft fractionation, co-immunoprecipitation, site-directed mutagenesis, transfection in cell lines Human molecular genetics High 14570703
2004 Podocin biosynthesis follows the classical secretory (exocytic) pathway through the endoplasmic reticulum (demonstrated by brefeldin A treatment causing ER accumulation). Of 12 disease-causing NPHS2 mutations tested, 9 mutants failed to reach the plasma membrane: 8 were retained in the ER and 1 localized to late endosomes. Mutants retained in the ER are associated with earlier disease onset than those correctly targeted to the membrane. Brefeldin A treatment, confocal microscopy, subcellular fractionation, transfection in cell lines, genotype-phenotype correlation Traffic (Copenhagen, Denmark) High 14675423
2002 The R229Q variant of podocin shows decreased binding to nephrin in vitro, providing a molecular mechanism by which this common polymorphism contributes to FSGS susceptibility. In vitro translation of podocin, pulldown assay with purified nephrin The Journal of clinical investigation Medium 12464671
2004 Missense mutations in the proximal C-terminus of podocin (R138Q, V180M, R291W) cause aberrant subcellular localization: R138Q is retained in the ER, V180M forms cytoplasmic inclusion bodies, and R291W is trapped in the ER and small intracellular vesicles. This abnormal podocin localization also alters nephrin trafficking to the plasma membrane in cotransfected cells, due to direct protein-protein binding between podocin and nephrin. Site-directed mutagenesis, confocal microscopy, immunoprecipitation, pulldown assay, transfection in HEK293 cells Kidney international High 15496146
2004 In vivo, NPHS2 mutations cause profound alteration of podocin expression and/or subcellular distribution in patient kidney biopsies. Secondary changes in distribution of nephrin, CD2AP, and alpha-actinin occur in association with podocin defects, with these proteins redistributed from the glomerular basement membrane to the podocyte body, supporting a scaffolding role for podocin in organization of the slit diaphragm. Immunohistochemistry, in situ hybridization, renal biopsy analysis of patients with defined NPHS2 mutations Kidney international Medium 15327385
2014 The pathogenicity of NPHS2 p.R229Q is mutation-dependent: it causes disease only when trans-associated with specific 3' NPHS2 mutations (affecting residues 270–351). These 3' mutations exert a dominant-negative effect on p.R229Q podocin through altered heterodimerization and mislocalization of the p.R229Q podocin, but behave as recessive alleles when associated with wild-type podocin. Clinical genetic analysis, protein heterodimerization assays, subcellular localization studies, structural modeling Nature genetics High 24509478
2015 Nphs2 (podocin) is a direct transcriptional target of the Wilms' tumor suppressor WT1 in podocytes, identified by integration of chromatin immunoprecipitation sequencing (ChIP-seq) with transcriptomic analysis in WT1 knockout models, and functionally validated in zebrafish. ChIP-seq, cDNA microarray, Nphs2-Cre conditional WT1 knockout mice, zebrafish functional assays Journal of the American Society of Nephrology : JASN High 25556170
2006 Three functional promoter polymorphisms of NPHS2 (-51T, -116T, and -535 insCTTTTTT3) cause strong downregulation of reporter gene expression in podocytes. Electrophoretic mobility shift assays showed that wild-type variants form specific DNA-protein complexes with podocyte nuclear extracts abolished by the rare forms. USF1 was identified as the specific trans-acting factor binding the -51G site, confirmed by binding inhibition and USF1 RNAi silencing. Reporter gene transfection in podocytes, EMSA, RNAi silencing of USF1, haplotype analysis Kidney international Medium 16900088
2009 The transcription factor Lmx1b regulates podocin (NPHS2) transcription by binding to a FLAT-F element in the promoter, demonstrating enhancer function. The SNP variant -116T in the promoter causes significant reduction in luciferase activity with altered nuclear protein binding. Reporter gene constructs, gel shift (EMSA) analysis, transfection in podocytes Cellular & molecular biology letters Medium 19562271
2022 In kidney organoids derived from iPSCs bearing endogenous NPHS2 pathogenic missense variants, distinct variants cause unique patterns of PODOCIN subcellular mistrafficking: P118L and R138Q are preferentially retained in the ER; R168H and R291W accumulate in the Golgi. All variants result in reduced PODOCIN protein levels without reduced transcription, variant-specific effects on NEPHRIN-PODOCIN colocalization and NEPHRIN trafficking, and podocyte-specific apoptosis not linked to ER stress. iPSC-derived kidney organoids, immunofluorescence, transcriptional profiling, PODOCIN-NEPHRIN colocalization assays, patient-derived iPSC lines Journal of the American Society of Nephrology : JASN High 36167728
2016 A heterozygous truncating mutation in NPHS2 (c.988_989delCT) causing dominant-pattern familial SRNS produces a truncated podocin that retains the ability to bind nephrin (by co-immunoprecipitation), but is associated with fragmented nephrin expression and reduced podocin expression in vivo. Co-immunoprecipitation, immunohistochemistry, whole genome sequencing, direct sequencing Clinical and experimental nephrology Medium 27573339
2002 Genetic epistasis between NPHS1 and NPHS2 was demonstrated: a 'tri-allelic' combination of NPHS1 and NPHS2 mutations modifies the phenotype from congenital nephrotic syndrome to congenital FSGS, providing functional evidence for a direct interaction between nephrin and podocin in the glomerular filtration barrier. Mutational analysis, genotype-phenotype epistasis in human patients Human molecular genetics Medium 11854170

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature genetics 1102 10742096
2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 316 17371932
2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. Journal of the American Society of Nephrology : JASN 292 14978175
2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney international 263 15253708
2003 Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Human molecular genetics 209 14570703
2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. The Journal of clinical investigation 201 12464671
2002 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Human molecular genetics 200 11854170
2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. Journal of the American Society of Nephrology : JASN 177 11805166
2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nature genetics 122 24509478
2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney international 104 19145239
1995 Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Human molecular genetics 100 8589695
2002 Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. Journal of the American Society of Nephrology : JASN 83 11805168
2006 NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genetics in medicine : official journal of the American College of Medical Genetics 80 16481888
2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic (Copenhagen, Denmark) 76 14675423
2004 NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney international 73 14871423
2005 NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. Pediatric research 72 15817495
2013 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Human mutation 68 24227627
2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney international 63 15780077
2004 Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney international 61 15496146
2015 Integration of Cistromic and Transcriptomic Analyses Identifies Nphs2, Mafb, and Magi2 as Wilms' Tumor 1 Target Genes in Podocyte Differentiation and Maintenance. Journal of the American Society of Nephrology : JASN 55 25556170
2010 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clinical journal of the American Society of Nephrology : CJASN 54 20947785
2003 NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatric nephrology (Berlin, Germany) 50 12687458
2006 Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clinical journal of the American Society of Nephrology : CJASN 49 17699384
2008 NPHS2 variation in focal and segmental glomerulosclerosis. BMC nephrology 47 18823551
2005 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 47 15769810
2012 Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 46 22228437
2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 45 17899208
2007 NPHS2 variation in sporadic focal segmental glomerulosclerosis. Journal of the American Society of Nephrology : JASN 45 17942957
2008 The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 44 18726620
1992 SRN1, a yeast gene involved in RNA processing, is identical to HEX2/REG1, a negative regulator in glucose repression. Molecular and cellular biology 44 1588964
2008 Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 42 18543005
2007 WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 42 17934764
2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatric nephrology (Berlin, Germany) 39 15338398
2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene 36 22565185
2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clinical journal of the American Society of Nephrology : CJASN 34 19406966
2004 In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Kidney international 34 15327385
2004 NPHS2 mutation associated with recurrence of proteinuria after transplantation. Pediatric nephrology (Berlin, Germany) 33 15015071
2017 Aminofutalosine Synthase: Evidence for Captodative and Aryl Radical Intermediates Using β-Scission and SRN1 Trapping Reactions. Journal of the American Chemical Society 32 28701039
2005 Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney international 31 15954915
2007 NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatric research 28 17211152
2018 The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. Human mutation 25 30260545
2009 Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. Pediatric nephrology (Berlin, Germany) 25 19495806
2006 Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 24 17109732
2004 Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron. Clinical practice 24 15627790
2022 Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking. Journal of the American Society of Nephrology : JASN 23 36167728
2011 NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. Indian pediatrics 22 22080622
2006 Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. Pediatric nephrology (Berlin, Germany) 21 16721582
2013 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. Pediatric nephrology (Berlin, Germany) 20 23800802
2012 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 20 23242530
2006 Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. Pediatric nephrology (Berlin, Germany) 18 16810518
2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases. BMC medical genetics 17 26420286
2009 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. Genetic testing and molecular biomarkers 16 19371226
2006 NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. Journal of nephrology 16 16874699
2006 Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases. Kidney international 15 16900088
2009 NPHS2 mutations in children with steroid-resistant nephrotic syndrome. Iranian journal of kidney diseases 14 19395786
2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. Bosnian journal of basic medical sciences 13 24856380
2018 Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling. American journal of kidney diseases : the official journal of the National Kidney Foundation 11 30241959
2016 WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. Molecular and cellular biochemistry 11 27885584
2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. Folia biologica 11 22578956
2006 Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome. Gene expression 11 16572591
2014 NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians. Nephrology (Carlton, Vic.) 10 24674236
2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. Iranian journal of kidney diseases 10 24072147
2009 A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. Pathology 10 20001346
2018 Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in genetics 9 30013592
2013 R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. Iranian journal of kidney diseases 9 24072153
2009 The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. Cellular & molecular biology letters 9 19562271
2007 Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 9 18000687
2022 Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular genetics and genomics : MGG 8 35278126
2016 Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. Clinical and experimental nephrology 8 27573339
2008 NPHS2 mutations. Indian journal of pediatrics 8 18334793
2016 Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. Clinical and experimental nephrology 7 26820844
2003 WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis. Clinical nephrology 7 12608558
2014 The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. International urology and nephrology 6 24715228
2004 A novel mutation of NPHS2 identified in a Chinese family. Pediatric nephrology (Berlin, Germany) 6 15322893
2020 NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 5 32129207
2014 NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy? Journal of tropical pediatrics 5 24519673
2013 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. Genetics and molecular research : GMR 5 23913389
2012 Familial focal segmental glomerulosclerosis (FSGS) in a Nigerian family and exclusion of mutations in NPHS2,WT1 and APOL1. West African journal of medicine 5 23468032
2024 Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence. Kidney international reports 4 38765578
2017 R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome. International journal of nephrology 4 28529802
2017 Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children. Gene 4 28712774
2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. Iranian journal of kidney diseases 4 25599733
2014 Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. Clinical kidney journal 4 25852895
2013 CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 4 24089165
2010 Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. Acta medica (Hradec Kralove) 4 21171529
2004 A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome. Nephrology (Carlton, Vic.) 4 15504144
2021 NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. Bioscience reports 3 33305316
2020 Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene. Stem cell research 3 32585588
2018 Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. Pediatric nephrology (Berlin, Germany) 3 29663071
2017 NPHS2 Mutations: A Closer Look to Latin American Countries. BioMed research international 3 28785586
2011 Foothold of NPHS2 mutations in primary nephrotic syndrome. Journal of postgraduate medicine 3 22120861
2010 A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. NDT plus 3 25949463
2009 Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy. Nephrology (Carlton, Vic.) 3 20025681
2023 NPHS2-6 drives cervical squamous cell carcinoma (CSCC) progression via hsa-miR-1323/SMC1B axis to activate PI3K-Akt pathway. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2 37322227
2023 The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood. Frontiers in medicine 2 38170106
2021 Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation. Clinical rheumatology 2 33428103
2020 CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. Journal of genetics 2 32482922
2019 Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. Open access Macedonian journal of medical sciences 2 31949506
2015 [NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome]. Revista chilena de pediatria 2 26455708
2014 NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome. Renal failure 2 25112471

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