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 albumi... See more...

Aliases for NPHS1 Gene

Aliases for NPHS1 Gene

  • NPHS1 Adhesion Molecule, Nephrin 2 3 5
  • NPHN 2 3 4
  • Renal Glomerulus-Specific Cell Adhesion Receptor 3 4
  • Nephrosis 1, Congenital, Finnish Type (Nephrin) 2 3
  • NPHS1, Nephrin 2 3
  • Nephrin 3 4
  • CNF 2 3
  • Truncated NPHS1 3
  • NPHS1 5

External Ids for NPHS1 Gene

Previous GeneCards Identifiers for NPHS1 Gene

  • GC19M036956
  • GC19M036740
  • GC19M040968
  • GC19M041008
  • GC19M040983
  • GC19M040984
  • GC19M036290
  • GC19M036316
  • GC19M032820

Summaries for NPHS1 Gene

Entrez Gene Summary for NPHS1 Gene

  • 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.[provided by RefSeq, Oct 2009]

GeneCards Summary for NPHS1 Gene

NPHS1 (NPHS1 Adhesion Molecule, Nephrin) is a Protein Coding gene. Diseases associated with NPHS1 include Nephrotic Syndrome, Type 1 and Congenital Nephrotic Syndrome Finnish Type. Among its related pathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and myosin binding. An important paralog of this gene is KIRREL3.

UniProtKB/Swiss-Prot Summary for NPHS1 Gene

  • Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).

Gene Wiki entry for NPHS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPHS1 Gene

Genomics for NPHS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPHS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J035868 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 0.0 -30 2.6 MYC ZNF600 IKZF1 ATF2 ZIC2 ZBTB10 BHLHE40 ZNF639 TBP ZNF341 APLP1 NPHS1 LOC107985317 lnc-NPHS1-3 TMEM147-AS1 ZNF345 KMT2B ZNF850 HAUS5 PROSER3
GH19J035845 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.4 +23.5 23486 0.8 ZNF600 ZBTB10 HES1 BHLHE40 ZNF341 ZEB1 MNT KLF7 SIN3A KLF9 NONHSAG025616.2 NPHS1 lnc-PRODH2-4 KIRREL2 PRODH2
GH19J035870 Promoter 0.6 Ensembl 250.7 -1.6 -1614 0.2 ZNF148 PRDM10 CTCF RAD21 NPHS1 LOC107985317 lnc-NPHS1-3 ZNF345 RBM42 ZNF567 PROSER3 ZNF850 APLP1 NONHSAG025618.2
GH19J035912 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.3 -44.7 -44701 1 BCL11A TRIM22 BATF MAFK IKZF1 ZNF362 HDGF NR2F1 JUNB PKNOX1 TYROBP APLP1 NPHS1 KIRREL2 NFKBID SDHAF1 HCST FFAR2 IGFLR1 U2AF1L4
GH19J035766 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +101.4 101436 2.5 ZNF600 ZBTB10 SIN3A THAP11 KLF9 MAFF SP2 SAP130 RARA GABPB1 ARHGAP33 PRODH2 LINC01529 KIRREL2 NPHS1 UPK1A ENSG00000267049 piR-48759-157 HSALNG0125664 PROSER3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPHS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPHS1

Top Transcription factor binding sites by QIAGEN in the NPHS1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for NPHS1 Gene

Latest Assembly
chr19:35,825,372-35,869,287
(GRCh38/hg38)
Size:
43,916 bases
Orientation:
Minus strand

Previous Assembly
chr19:36,316,274-36,343,406
(GRCh37/hg19 by Entrez Gene)
Size:
27,133 bases
Orientation:
Minus strand

chr19:36,316,866-36,360,189
(GRCh37/hg19 by Ensembl)
Size:
43,324 bases
Orientation:
Minus strand

Genomic View for NPHS1 Gene

Genes around NPHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHS1 Gene

Proteins for NPHS1 Gene

  • Protein details for NPHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60500-NPHN_HUMAN
    Recommended name:
    Nephrin
    Protein Accession:
    O60500
    Secondary Accessions:
    • A6NDH2
    • C3RX61

    Protein attributes for NPHS1 Gene

    Size:
    1241 amino acids
    Molecular mass:
    134742 Da
    Quaternary structure:
    • Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL1/NEPH1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 glycosylation. Interacts with KIRREL3. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2 (PubMed:11562357).

    Three dimensional structures from OCA and Proteopedia for NPHS1 Gene

    Alternative splice isoforms for NPHS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPHS1 Gene

Post-translational modifications for NPHS1 Gene

  • Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.
  • Glycosylation at Asn40, Asn356, Asn401, Asn547, Asn553, Asn564, Asn577, Asn680, Asn708, and Asn908
  • Modification sites at PhosphoSitePlus

Other Protein References for NPHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for NPHS1
  • Boster Bio Antibodies for NPHS1

No data available for DME Specific Peptides for NPHS1 Gene

Domains & Families for NPHS1 Gene

Gene Families for NPHS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NPHS1 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • CD80-like C2-set immunoglobulin

Suggested Antigen Peptide Sequences for NPHS1 Gene

GenScript: Design optimal peptide antigens:
  • Renal glomerulus-specific cell adhesion receptor (NPHN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60500

UniProtKB/Swiss-Prot:

NPHN_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with NPHS1: view

Function for NPHS1 Gene

Molecular function for NPHS1 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).
GENATLAS Biochemistry:
nephrin,transmembrane protein of the immunoglobulin family of cell-adhesion molecules,expressed in renal glomeruli with CD2 associated protein CD2AP specifically located at the slit membrane extending between foot processes of the podocytes,mediating filtration through the podocyte filter which sits at the interface of the capillary and the nephron

Phenotypes From GWAS Catalog for NPHS1 Gene

Gene Ontology (GO) - Molecular Function for NPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16525419
GO:0017022 myosin binding IPI 21402783
GO:0050839 cell adhesion molecule binding IBA 21873635
genes like me logo Genes that share ontologies with NPHS1: view
genes like me logo Genes that share phenotypes with NPHS1: view

Human Phenotype Ontology for NPHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPHS1 Gene

MGI Knock Outs for NPHS1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPHS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NPHS1 Gene

Localization for NPHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPHS1 Gene

Cell membrane. Single-pass type I membrane protein. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269 PubMed:10393930, ECO:0000269 PubMed:10550324}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPHS1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0005911 cell-cell junction IBA 21873635
GO:0005925 focal adhesion IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NPHS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPHS1 Gene

Pathways & Interactions for NPHS1 Gene

genes like me logo Genes that share pathways with NPHS1: view

Pathways by source for NPHS1 Gene

SIGNOR curated interactions for NPHS1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0007155 cell adhesion TAS 9660941
GO:0007254 JNK cascade IEA --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with NPHS1: view

Drugs & Compounds for NPHS1 Gene

(10) Drugs for NPHS1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Losartan Approved Pharma 366

(7) Additional Compounds for NPHS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPHS1: view

Transcripts for NPHS1 Gene

mRNA/cDNA for NPHS1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPHS1

Alternative Splicing Database (ASD) splice patterns (SP) for NPHS1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5
SP1:
SP2: -

Relevant External Links for NPHS1 Gene

GeneLoc Exon Structure for
NPHS1

Expression for NPHS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPHS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPHS1 Gene

This gene is overexpressed in Kidney - Cortex (x28.1) and Pancreas (x19.7).

Protein differential expression in normal tissues from HIPED for NPHS1 Gene

This gene is overexpressed in Plasma (43.9), Urine (11.0), and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPHS1 Gene



Protein tissue co-expression partners for NPHS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPHS1

SOURCE GeneReport for Unigene cluster for NPHS1 Gene:

Hs.122186

mRNA Expression by UniProt/SwissProt for NPHS1 Gene:

O60500-NPHN_HUMAN
Tissue specificity: Specifically expressed in podocytes of kidney glomeruli.

Evidence on tissue expression from TISSUES for NPHS1 Gene

  • Blood(4.4)
  • Kidney(3.7)
  • Urine(2.6)
  • Pancreas(2.2)
  • Nervous system(2.2)
  • Heart(2.2)
  • Muscle(2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPHS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • ureter
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with NPHS1: view

Primer products for research

Orthologs for NPHS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPHS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NPHS1 29 30
  • 99.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NPHS1 29 30
  • 86.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NPHS1 29 30
  • 85.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nphs1 29
  • 82.99 (n)
Mouse
(Mus musculus)
Mammalia Nphs1 29 16 30
  • 82.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NPHS1 30
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NPHS1 30
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NPHS1 30
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nphs1 29
  • 55.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii nphs1 29 30
  • 50.01 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sns 29 30 31
  • 46.15 (n)
OneToMany
hbs 30 31
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010742 29
  • 44.77 (n)
Worm
(Caenorhabditis elegans)
Secernentea C26G2.1 31
  • 23 (a)
syg-2 30
  • 21 (a)
OneToOne
Species where no ortholog for NPHS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NPHS1 Gene

ENSEMBL:
Gene Tree for NPHS1 (if available)
TreeFam:
Gene Tree for NPHS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPHS1: view image
Alliance of Genome Resources:
Additional Orthologs for NPHS1

Paralogs for NPHS1 Gene

Paralogs for NPHS1 Gene

genes like me logo Genes that share paralogs with NPHS1: view

Variants for NPHS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPHS1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1004356 Uncertain Significance: not provided 35,842,262(-) T/G
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro)
MISSENSE
1009824 Uncertain Significance: not provided 35,849,637(-) A/T
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr)
MISSENSE
1016099 Uncertain Significance: not provided 35,841,835(-) C/T
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile)
MISSENSE
1019678 Uncertain Significance: not provided 35,831,715(-) G/T
NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile)
MISSENSE
1028797 Uncertain Significance: Finnish congenital nephrotic syndrome 35,844,493(-) T/C
NM_004646.4(NPHS1):c.1931-34A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NPHS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NPHS1 Gene

Variant ID Type Subtype PubMed ID
dgv51n68 CNV loss 17160897
esv1600817 CNV insertion 17803354
esv2481755 CNV insertion 19546169
nsv478254 CNV novel sequence insertion 20440878
nsv953286 CNV deletion 24416366

Variation tolerance for NPHS1 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.61; 91.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPHS1 Gene

Human Gene Mutation Database (HGMD)
NPHS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPHS1
Leiden Open Variation Database (LOVD)
NPHS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPHS1 Gene

Disorders for NPHS1 Gene

MalaCards: The human disease database

(47) MalaCards diseases for NPHS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
nephrotic syndrome, type 1
  • nphs1
congenital nephrotic syndrome finnish type
  • cnf
focal segmental glomerulosclerosis
  • fgs
familial nephrotic syndrome
  • congenital nephrotic syndrome
nephrotic syndrome
  • finnish congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NPHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NPHN_HUMAN
  • Nephrotic syndrome 1 (NPHS1) [MIM:256300]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269 PubMed:10652016, ECO:0000269 PubMed:11317351, ECO:0000269 PubMed:11726550, ECO:0000269 PubMed:17290294, ECO:0000269 PubMed:18503012, ECO:0000269 PubMed:18614772, ECO:0000269 PubMed:20172850, ECO:0000269 PubMed:20798252, ECO:0000269 PubMed:22009864, ECO:0000269 PubMed:22565185, ECO:0000269 PubMed:22732337, ECO:0000269 PubMed:25804400, ECO:0000269 PubMed:26560236, ECO:0000269 PubMed:9660941, ECO:0000269 PubMed:9915943}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for NPHS1 Gene

congenital nephrotic syndrome of the Finnish type,autosomal recessive,with mitochondrial dysfunction in the kidneys,characterized by massive proteinuria already present at birth without extrarenal symptoms and anatomically an absence of podocyte foot processes and of slit diaphragm

Additional Disease Information for NPHS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NPHS1: view

Publications for NPHS1 Gene

  1. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID: 18614772) Philippe A … Antignac C (Journal of the American Society of Nephrology : JASN 2008) 3 4 22 72
  2. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). (PMID: 15086927) Lahdenkari AT … Jalanko H (Kidney international 2004) 3 22 40 72
  3. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. (PMID: 9660941) Kestilä M … Tryggvason K (Molecular cell 1998) 2 3 4 72
  4. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (PMID: 20172850) Schoeb DS … Gesselschaft für Paediatrische Nephrologie (GPN) Study Group (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010) 3 4 72
  5. Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population. (PMID: 20138859) Lo WY … Tsai FJ (Clinica chimica acta; international journal of clinical chemistry 2010) 3 22 40

Products for NPHS1 Gene

  • Addgene plasmids for NPHS1
  • Boster Bio Antibodies for NPHS1
  • Boster Bio ELISA Kits for NPHS1

Sources for NPHS1 Gene