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

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

rs447707 in KIRREL2;NPHS1 gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs386833882 in KIRREL2;NPHS1 gene and Finnish congenital nephrotic syndrome PMID 18503012 2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

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

PMID 22584503 2012 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

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

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

PMID 28780565 2017 Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

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

PMID 10652016 2000 Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the 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 11317351 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

PMID 15338398 2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

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

PMID 25407002 2015 Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

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

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

PMID 18709391 2009 Genetic forms of nephrotic syndrome: a single-center experience in Brussels.

PMID 21415313 2011 Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

PMID 25720465 2015 Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.

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

rs447707 in KIRREL2;NPHS1 gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.