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

Gene: AXDND1

Alternate names for this Gene: C1orf125

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.2

Description of this Gene: axonemal dynein light chain domain containing 1

Type of Gene: protein-coding

rs1490010141 in NPHS2;AXDND1 gene and Idiopathic Nephrotic Syndrome PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

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

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

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

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

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

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

PMID 26413278 2015 Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.

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

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

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

PMID 15817495 2005 NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.

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

PMID 15769810 2005 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

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

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

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

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

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

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

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

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

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

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

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

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

PMID 21355056 2011 Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.

PMID 18823551 2008 NPHS2 variation in focal and segmental glomerulosclerosis.

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

PMID 18443213 2008 Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

PMID 15015071 2004 NPHS2 mutation associated with recurrence of proteinuria after transplantation.

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

PMID 26668027 2016 Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

rs1490010141 in NPHS2;AXDND1 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

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

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

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

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

PMID 26413278 2015 Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.

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

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

PMID 15817495 2005 NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.

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

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

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

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

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

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

PMID 15769810 2005 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

PMID 18823551 2008 NPHS2 variation in focal and segmental glomerulosclerosis.

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

PMID 21355056 2011 Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.

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

PMID 18443213 2008 Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

PMID 15015071 2004 NPHS2 mutation associated with recurrence of proteinuria after transplantation.

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

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

PMID 26668027 2016 Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.