Gene: NPHS2

Alternate names for this Gene: PDCN|SRN1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: NPHS2 stomatin family member, podocin

Type of Gene: protein-coding

rs1057516414 in NPHS2 gene and Idiopathic Nephrotic Syndrome PMID 24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PMID 10742096 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

PMID 22578956 2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PMID 23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PMID 24072147 2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

PMID 23913389 2013 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

PMID 23800802 2013 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

PMID 26420286 2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases.

PMID 22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

PMID 12464671 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

PMID 15780077 2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

PMID 11733557 2001 Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

PMID 28117080 2017 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

PMID 11805166 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

PMID 16721582 2006 Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus.

PMID 14978175 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

PMID 28204945 2017 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

PMID 19674119 2009 R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms.

PMID 15327385 2004 In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

PMID 20001346 2009 A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.

PMID 18216321 2008 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

PMID 15322893 2004 A novel mutation of NPHS2 identified in a Chinese family.

PMID 23013956 2012 NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.

PMID 14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

PMID 20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

PMID 19371226 2009 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

PMID 16810518 2006 Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

PMID 19067903 2008 Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation.

PMID 25599733 2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.

PMID 23645318 2013 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

PMID 26138234 2015 Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

PMID 24509478 2014 Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation.

PMID 19145239 2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

PMID 18823551 2008 NPHS2 variation in focal and segmental glomerulosclerosis.

PMID 11729243 2001 Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

PMID 25852895 2014 Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

PMID 12649741 2003 Intracellular mislocalization of mutant podocin and correction by chemical chaperones.

PMID 24500309 2014 Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 19406966 2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

PMID 29382718 2018 Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

PMID 11805168 2002 Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

PMID 12707396 2003 Broadening the spectrum of diseases related to podocin mutations.

PMID 23595123 2013 A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PMID 15496146 2004 Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 24509478 2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

PMID 21636722 2011 Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss.

PMID 18596732 2008 Steroid-resistant nephrotic syndrome.

rs1057516414 in NPHS2 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PMID 15780077 2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

PMID 11733557 2001 Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

PMID 28117080 2017 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

PMID 11805166 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

PMID 16721582 2006 Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus.

PMID 14978175 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

PMID 28204945 2017 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

PMID 19674119 2009 R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms.

PMID 15322893 2004 A novel mutation of NPHS2 identified in a Chinese family.

PMID 20001346 2009 A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.

PMID 15327385 2004 In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

PMID 19371226 2009 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 19067903 2008 Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation.

PMID 16810518 2006 Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

PMID 23013956 2012 NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PMID 18216321 2008 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

PMID 20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

PMID 14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 19145239 2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PMID 18823551 2008 NPHS2 variation in focal and segmental glomerulosclerosis.

PMID 12464671 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

PMID 23645318 2013 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

PMID 26138234 2015 Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

PMID 25599733 2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.

PMID 24509478 2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

PMID 29382718 2018 Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

PMID 11729243 2001 Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

PMID 10742096 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

PMID 19406966 2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

PMID 12649741 2003 Intracellular mislocalization of mutant podocin and correction by chemical chaperones.

PMID 24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

PMID 23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PMID 24500309 2014 Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

PMID 25852895 2014 Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

PMID 11805168 2002 Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

PMID 23595123 2013 A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PMID 24072147 2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

PMID 15496146 2004 Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.

PMID 12707396 2003 Broadening the spectrum of diseases related to podocin mutations.

PMID 21636722 2011 Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss.

PMID 23515051 2013 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 18596732 2008 Steroid-resistant nephrotic syndrome.

rs869025495 in NPHS2 gene and Proteinuria PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

PMID 15504144 2004 A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.

PMID 14978175 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.