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Aliases for NPHS2 Gene

Aliases for NPHS2 Gene

  • Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin) 2 3
  • PDCN 3 6
  • SRN1 3 6
  • Podocin 3

External Ids for NPHS2 Gene

Previous GeneCards Identifiers for NPHS2 Gene

  • GC01M177044
  • GC01M174948
  • GC01M176039
  • GC01M176759
  • GC01M176251
  • GC01M177786
  • GC01M150746

Summaries for NPHS2 Gene

Entrez Gene Summary for NPHS2 Gene

  • 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. [provided by RefSeq, Jul 2014]

GeneCards Summary for NPHS2 Gene

NPHS2 (Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin)) is a Protein Coding gene. Diseases associated with NPHS2 include nephrotic syndrome, type 2 and steroid-resistant nephrotic syndrome. Among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte. An important paralog of this gene is STOML2.

UniProtKB/Swiss-Prot for NPHS2 Gene

  • Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton

Gene Wiki entry for NPHS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPHS2 Gene

Genomics for NPHS2 Gene

Regulatory Elements for NPHS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NPHS2 Gene

Start:
179,550,539 bp from pter
End:
179,575,952 bp from pter
Size:
25,414 bases
Orientation:
Minus strand

Genomic View for NPHS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPHS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHS2 Gene

Proteins for NPHS2 Gene

  • Protein details for NPHS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP85-PODO_HUMAN
    Recommended name:
    Podocin
    Protein Accession:
    Q9NP85
    Secondary Accessions:
    • B1AM32
    • B1AM33
    • Q8N6Q5

    Protein attributes for NPHS2 Gene

    Size:
    383 amino acids
    Molecular mass:
    42201 Da
    Quaternary structure:
    • Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN (By similarity).

    Alternative splice isoforms for NPHS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPHS2 Gene

Proteomics data for NPHS2 Gene at MOPED

Post-translational modifications for NPHS2 Gene

Other Protein References for NPHS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NPHS2 Gene

Domains for NPHS2 Gene

Protein Domains for NPHS2 Gene

Suggested Antigen Peptide Sequences for NPHS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NP85

UniProtKB/Swiss-Prot:

PODO_HUMAN :
  • Q9NP85
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with NPHS2: view

No data available for Gene Families for NPHS2 Gene

Function for NPHS2 Gene

Molecular function for NPHS2 Gene

UniProtKB/Swiss-Prot Function: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton

Gene Ontology (GO) - Molecular Function for NPHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12424224
genes like me logo Genes that share ontologies with NPHS2: view
genes like me logo Genes that share phenotypes with NPHS2: view

Animal Models for NPHS2 Gene

MGI Knock Outs for NPHS2:

Animal Model Products

CRISPR Products

miRNA for NPHS2 Gene

miRTarBase miRNAs that target NPHS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPHS2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NPHS2 Gene

Localization for NPHS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPHS2 Gene

Isoform 1: Cell membrane; Peripheral membrane protein.
Isoform 2: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPHS2 Gene COMPARTMENTS Subcellular localization image for NPHS2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NPHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0005911 cell-cell junction IDA 17675666
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane IDA 11786407
genes like me logo Genes that share ontologies with NPHS2: view

Pathways for NPHS2 Gene

genes like me logo Genes that share pathways with NPHS2: view

Pathways by source for NPHS2 Gene

1 BioSystems pathway for NPHS2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NPHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007588 excretion IEA --
GO:0031532 actin cytoskeleton reorganization IDA 17675666
GO:0072249 metanephric glomerular visceral epithelial cell development IEP 11786407
genes like me logo Genes that share ontologies with NPHS2: view

Compounds for NPHS2 Gene

(8) Novoseek inferred chemical compound relationships for NPHS2 Gene

Compound -log(P) Hits PubMed IDs
puromycin aminonucleoside 73.8 4
steroid 45.9 23
cyclosporin a 34.8 3
cyclophosphamide 20 1
creatinine 12.3 2
genes like me logo Genes that share compounds with NPHS2: view

Transcripts for NPHS2 Gene

mRNA/cDNA for NPHS2 Gene

Unigene Clusters for NPHS2 Gene

Nephrosis 2, idiopathic, steroid-resistant (podocin):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPHS2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NPHS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPHS2 Gene

No ASD Table

Relevant External Links for NPHS2 Gene

GeneLoc Exon Structure for
NPHS2
ECgene alternative splicing isoforms for
NPHS2

Expression for NPHS2 Gene

mRNA expression in normal human tissues for NPHS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPHS2 Gene

This gene is overexpressed in Kidney - Cortex (52.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NPHS2 Gene

SOURCE GeneReport for Unigene cluster for NPHS2 Gene Hs.412710

mRNA Expression by UniProt/SwissProt for NPHS2 Gene

Q9NP85-PODO_HUMAN
Tissue specificity: Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli
genes like me logo Genes that share expressions with NPHS2: view

In Situ Assay Products

Orthologs for NPHS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPHS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPHS2 35
  • 97.35 (n)
  • 97.52 (a)
NPHS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPHS2 35
  • 88.86 (n)
  • 89.82 (a)
NPHS2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPHS2 35
  • 88.25 (n)
  • 91.19 (a)
NPHS2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nphs2 35
  • 85.91 (n)
  • 88.12 (a)
Nphs2 16
Nphs2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPHS2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPHS2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nphs2 35
  • 84.35 (n)
  • 85.91 (a)
chicken
(Gallus gallus)
Aves NPHS2 35
  • 66.39 (n)
  • 62.88 (a)
NPHS2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPHS2 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nphs2 35
  • 62.02 (n)
  • 59.59 (a)
zebrafish
(Danio rerio)
Actinopterygii nphs2 35
  • 53.71 (n)
  • 46.48 (a)
nphs2 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42540 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sto-2 36
  • 36 (a)
OneToMany
sto-3 37
  • 39 (a)
sto-1 37
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
-- 36
  • 42 (a)
ManyToMany
Species with no ortholog for NPHS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 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 NPHS2 Gene

ENSEMBL:
Gene Tree for NPHS2 (if available)
TreeFam:
Gene Tree for NPHS2 (if available)

Paralogs for NPHS2 Gene

Paralogs for NPHS2 Gene

Selected SIMAP similar genes for NPHS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NPHS2: view

Variants for NPHS2 Gene

Sequence variations from dbSNP and Humsavar for NPHS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs745317 -- 179,556,176(-) TTATG(A/G)GATGT intron-variant
rs749960 -- 179,575,020(+) TTATA(G/T)GAGAG intron-variant
rs868101 -- 179,555,497(+) TTTAC(A/G)CTTCT intron-variant
rs913516 -- 179,555,515(+) TTATT(G/T)TTTAG intron-variant
rs1079291 -- 179,575,980(-) CCCGA(C/T)GGTCT upstream-variant-2KB

Relevant External Links for NPHS2 Gene

HapMap Linkage Disequilibrium report
NPHS2
Human Gene Mutation Database (HGMD)
NPHS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NPHS2 Gene

Disorders for NPHS2 Gene

(1) OMIM Diseases for NPHS2 Gene (604766)

UniProtKB/Swiss-Prot

PODO_HUMAN
  • Nephrotic syndrome 2 (NPHS2) [MIM:600995]: 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. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. {ECO:0000269 PubMed:10742096, ECO:0000269 PubMed:15253708, ECO:0000269 PubMed:17899208, ECO:0000269 PubMed:20947785, ECO:0000269 PubMed:22565185, ECO:0000269 PubMed:22578956, ECO:0000269 PubMed:23242530, ECO:0000269 PubMed:23913389, ECO:0000269 PubMed:24072147, ECO:0000269 PubMed:24227627}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(22) Novoseek inferred disease relationships for NPHS2 Gene

Disease -log(P) Hits PubMed IDs
nphs1 95.9 63
glomerulosclerosis, focal segmental 93.2 31
nephrotic syndrome 92.6 136
proteinuria 85.5 53
mesangial sclerosis, diffuse 78.1 2

Relevant External Links for NPHS2

Genetic Association Database (GAD)
NPHS2
Human Genome Epidemiology (HuGE) Navigator
NPHS2
genes like me logo Genes that share disorders with NPHS2: view

Publications for NPHS2 Gene

  1. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID: 10742096) Boute N. … Antignac C. (Nat. Genet. 2000) 2 3 4 23
  2. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. (PMID: 12687458) Maruyama K. … Yoshikawa N. (Pediatr. Nephrol. 2003) 3 4 23 48
  3. Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. (PMID: 15954915) Dusel J.A. … Freedman B.I. (Kidney Int. 2005) 3 4 23 48
  4. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PMID: 17899208) Berdeli A. … Cakar N. (Pediatr. Nephrol. 2007) 3 4 23 48
  5. Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy. (PMID: 17635752) Mao J. … Zhang Y. (Nephrology (Carlton) 2007) 3 23 48

Products for NPHS2 Gene

Sources for NPHS2 Gene

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