Gene: NPHS1

Alternate names for this Gene: CNF|NPHN|nephrin

Gene Summary: This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: NPHS1 adhesion molecule, nephrin

Type of Gene: protein-coding

Gene: KIRREL2

Alternate names for this Gene: FILTRIN|NEPH3|NLG1

Gene Summary: This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: kirre like nephrin family adhesion molecule 2

Type of Gene: protein-coding

rs139598219 in NPHS1;KIRREL2 gene and Finnish congenital nephrotic syndrome PMID 21672106 2012 Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.

PMID 11726550 2001 Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

PMID 9660941 1998 Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

PMID 18503012 2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

PMID 18614772 2008 Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

PMID 17290294 2007 A familial childhood-onset relapsing nephrotic syndrome.

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

PMID 22732337 2012 Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

PMID 10652016 2000 Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

PMID 20172850 2010 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

PMID 11317351 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

PMID 22009864 2011 Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

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

PMID 26560236 2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

PMID 25804400 2015 SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

PMID 9915943 1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

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

PMID 17371932 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).

PMID 10972661 2000 Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

PMID 15086927 2004 Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).

PMID 23949594 2013 Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

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