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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPHS2 Gene

protein-coding   GIFtS: 57
GCID: GC01M179519

nephrosis 2, idiopathic, steroid-resistant (podocin)
 Explore 29 diseases affiliated with
NPHS2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NPHS2    

Aliases
for NPHS2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin)1 2
PDCN1 2 5
SRN11 2 5
Podocin1

External Ids:    HGNC: 133941   Entrez Gene: 78272   Ensembl: ENSG000001162187   OMIM: 6047665   UniProtKB: Q9NP853   

Export aliases for NPHS2 gene to outside databases

Previous GC identifers: GC01M177044 GC01M174948 GC01M176039 GC01M176759 GC01M176251 GC01M177786 GC01M150746


Summaries
for NPHS2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NPHS2:
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and
acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal
recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five
years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant
has been described but its full length sequence has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
Function: 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


Genomic Views
for NPHS2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPHS2 gene promoter:
         MAZR   POU6F1 (c2)   AP-2gamma   HNF-1A   Egr-2   Ik-2   HNF-1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPHS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPHS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPHS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25-q31

NPHS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M179519:  view genomic region     (about GC identifiers)

Start:
 179,519,674 bp from pter      End:
 179,545,087 bp from pter
Size:
 25,414 bases      Orientation:
 minus strand

Proteins
for NPHS2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85 (See protein sequence)
Recommended Name: Podocin  
Size: 383 amino acids; 42201 Da
Subunit: Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein (Potential)
Secondary accessions: B1AM32 B1AM33 Q8N6Q5
Alternative splicing: 2 isoforms:  Q9NP85-1   Q9NP85-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPHS2: NX_Q9NP85

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP85

    • NPHS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055440.1  
    ENSEMBL proteins: 
     ENSP00000356587   ENSP00000356588  
    Reactome Protein details: Q9NP85
    Human Recombinant Protein Products: 
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    Novus Biologicals NPHS2 Protein
    Novus Biologicals NPHS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NPHS2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10742096
    GO:0005911cell-cell junction IDA17675666
    GO:0016020membrane ----
    GO:0031235intrinsic to internal side of plasma membrane IDA11786407


    NPHS2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NPHS2

    Protein Domains /
    Families
    for NPHS2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPHS2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001107 Band_7
     IPR001972 Stomatin
     IPR018080 Band_7/stomatin-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9NP85

    ProtoNet protein and cluster: Q9NP85

    1 Blocks protein family: IPB001972 Stomatin

    UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
    Similarity: Belongs to the band 7/mec-2 family


    Function
    for NPHS2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
    Function: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma
    membrane and the cytoskeleton

    miRNA
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    hsa-miR-196a* hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmid: NPHS2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17675666


    NPHS2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NPHS2:
     Increased cilium length after  

    Animal Models:
         Mouse knock-out Nphs2tm1Antc for NPHS2
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nphs2):
     cardiovascular system  growth/size  homeostasis/metabolism  mortality/aging  renal/urinary system 

    NPHS2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NPHS2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nephrin interactions
    		Nephrin interactions1.00
    2Nephrin/Neph1 signaling in the kidney podocyte
    		Nephrin/Neph1 signaling in the kidney podocyte1.00
    3Cell-cell junction organization
    		Cell-Cell communication0.45

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for NPHS2 
        Nephrin/Neph1 signaling in the kidney podocyte

    2        Reactome Pathways for NPHS2
        Nephrin interactions
    Cell-Cell communication



    NPHS2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPHS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for NPHS2 (Q9NP853 ENSP000003565874) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPHS1O605003, ENSP000003681904I2D: score=3 STRING: ENSP00000368190
    CD2APQ9Y5K63, ENSP000003522644I2D: score=2 STRING: ENSP00000352264
    KIRRELQ96J843, ENSP000003521384I2D: score=1 STRING: ENSP00000352138
    SH3KBP1Q96B973, ENSP000003809214I2D: score=1 STRING: ENSP00000380921
    TRPC6Q9Y2103, ENSP000003409134I2D: score=1 STRING: ENSP00000340913
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007588excretion TAS10742096
    GO:0031532actin cytoskeleton reorganization IDA17675666
    GO:0072249metanephric glomerular visceral epithelial cell development IEP11786407


    NPHS2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPHS2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPHS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NPHS2
    8 Novoseek chemical compound relationships for NPHS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    puromycin aminonucleoside 73.8 6 12506137 (3), 15100730 (1)
    steroid 45.9 30 14978175 (6), 11805166 (2), 17216259 (2), 16752799 (2) (see all 12)
    cyclosporin a 34.8 4 14978175 (1), 19495806 (1), 15042551 (1)
    cyclophosphamide 20 1 14978175 (1)
    creatinine 12.3 2 16900088 (1), 18685143 (1)
    lipid 0 8 14570703 (3), 11733557 (2), 14675423 (1), 15327385 (1)
    calcium 0 2 15843471 (1), 18364721 (1)
    tyrosine 0 2 15579503 (2)

    Search CenterWatch for drugs/clinical trials and news about NPHS2 / PODO 

    Transcripts
    for NPHS2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NPHS2 gene: 
    NM_014625.2  

    Unigene Cluster for NPHS2:

    Nephrosis 2, idiopathic, steroid-resistant (podocin)
    Hs.412710  [show with all ESTs]
    Unigene Representative Sequence: NM_014625
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367615(uc001gmq.4) ENST00000367616(uc009wxi.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPHS2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate NPHS2:
    hsa-miR-196a* hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmid: NPHS2 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: NPHS2
    OriGene siRNA: NPHS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPHS2
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPHS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPHS2

    Additional cDNA sequence: 

    AJ279254.1 BC029141.1 

    2 DOTS entries:

    DT.75100874  DT.100009151 

    24/25 AceView cDNA sequences (see all 25):

    AI913530 BX095913 AW294225 AI796031 AI590292 AW263080 BG432611 BF431633 
    AI672038 BC029141 AI590197 NM_014625 BV184769 BM923426 AW615169 AW779753 
    AW772316 BG413421 AJ279254 AI767687 BI759641 AW271469 BI765150 BG426071 

    GeneLoc Exon Structure


    Expression
    for NPHS2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPHS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGAGGGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NPHS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyPodocyte LayerPodocytesKidney
    KidneyPodocyte LayerPresumptive PodocytesKidney
    KidneyS-shaped Body Proximal SegmentS-shaped Body Proximal CellsKidney
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    KidneyGlomerulusKidney
    KidneyMetanephrosKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Adult human kidney epithelial cells (Primary Cell)Kidney
    Renal-like cells (Derivation of renal-...)
    Epithelial Podocyte-like cells (Induction of mesench...)

    See NPHS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPHS2

    SOURCE GeneReport for Unigene cluster: Hs.412710

    UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
    Tissue specificity: Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli

        SABiosciences Expression via Pathway-Focused PCR Arrays including NPHS2: 
              Nephrotoxicity in human mouse rat
              Terminal Differentiation Markers in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for NPHS2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for NPHS2 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NPHS21 nephrosis 2, idiopathic, steroid-resistant (podocin) 67.29(n)
    63.66(a)    		   424422  XM_422265.2  XP_422265.2 
    lizard
    (Anolis carolinensis)    		 Reptilia NPHS26
    --
    (see all 3)    		 --
    		 58(a)
    16(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 GL343300.1(1028329-1041486)
    GL343804.1(125687-136727)
    zebrafish
    (Danio rerio)    		 Actinopterygii nphs21 nephrosis 2, idiopathic, steroid-resistant (podocin) 52(n)
    45.07(a)    		   557914  NM_001018145.1  NP_001018155.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mec26
    CG332536
    (see all 7)    		 --
    		 35(a)
    33(a)
    (see all 7)    		 possible ortholog
    possible ortholog
    (see all 7)    		 X(19082068-19084226)
    X(19077457-19081312)
    worm
    (Caenorhabditis elegans)    		 Secernentea sto-13 Erythrocyte band 7 integral membrane protein
    (human)    		 40(a)
    (best of 2)    		   X(7598140-7599702)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G541006
    AT4G275856
    		 SPFH/Band 7/PHB domain-containing membrane-associa...
    SPFH/Band 7/PHB domain-containing membrane-associa...
    		 13(a)
    13(a)
    		 possible ortholog
    possible ortholog
    		 5(21953787-21956564)
    4(13766763-13769961)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 stomatin-like protein 2, putative, expressed
    		 14(a)
    		 possible ortholog
    		 8(3419572-3423755)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria qmcA6
    		 multicopy suppressor of ftsH htpX double mutant; m...
    		 22(a)
    		 possible ortholog
    		 Chromosome(514080-514997)


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

    Paralogs
    for NPHS2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPHS2 gene
    STOML22  STOML32  STOM2  STOML12  
    2 SIMAP similar genes for NPHS2 using alignment to 1 protein entry:     PODO_HUMAN:
    STOM    STOML3

    NPHS2 for paralogs           About GeneDecksing



    Genomic Variants
    for NPHS2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/534 NCBI SNPs in NPHS2 are shown (see all 534)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743153441,2
    		C,pathogenic203438933(-) GACTCC/TGCACA 2 P L mis10--------
    rs743153451,2
    		Cpathogenic203439148(-) AGGAAG/TGTACG 2 G C mis10--------
    rs743153431,2
    		Cpathogenic203453419(-) TATTCC/TGACTG 2 R * stg10--------
    rs743153461,2
    		Cpathogenic203455013(-) CCTGGA/GTACCT 2 D G mis10--------
    rs617477281,2
    		C,F,other203457668(+) GGGATC/TGATGT 2 Q R mis14Minor allele frequency- T:0.03NS NA EU 6051
    rs786068731,2
    		C,F,--150746489(+) GAAGAC/ATGCAT 1 -- ut311Minor allele frequency- A:0.06WA 118
    rs43991181,2
    		C,F,H--150746954(+) TTTTAG/AGATTT 2 /P /L mis1 ese38Minor allele frequency- A:0.01NS EA NA 1056
    rs743754731,2
    		--150747316(+) AAGCAC/TGGTTA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs168543371,2
    		C,F,H,--150747333(+) GAACAT/CGTTTA 1 -- int18Minor allele frequency- C:0.02NA NS EA WA 658
    rs745186761,2
    		--150747409(+) AATGCG/ATTAGG 1 -- int12Minor allele frequency- A:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for NPHS2 (179519674 - 179545087 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NPHS2: --
    Human Gene Mutation Database (HGMD): NPHS2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPHS2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHS2

    Disorders / Diseases
    for NPHS2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NPHS2 for disorders           About GeneDecksing

    OMIM gene information: 604766   
    OMIM disorders: 600995  
    UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
  • Defects in NPHS2 are the cause of nephrotic syndrome type 2 (NPHS2) [MIM:600995]. It is a renal disorder
    • characterized clinically by childhood onset of proteinuria, 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

    20/29 diseases for NPHS2 (see all 29):    About MalaCards
    steroid-resistant nephrotic syndrome    nephrotic syndrome    nephrosis    nail-patella syndrome
    discrete subaortic stenosis    denys-drash syndrome    end stage renal failure    nephrotic syndrome, type 2
    focal segmental glomerulosclerosis    mesangial sclerosis    glomerulosclerosis    ichthyosis vulgaris
    focal glomerulosclerosis    frasier syndrome    wilms tumor    ichthyosis
    nephritis    nephropathy    lupus nephritis    proteinuria

    6 diseases from the University of Copenhagen DISEASES database for NPHS2:
    Nephrotic syndrome     Proteinuria     Glomerulonephritis     Kidney failure
    nail-patella syndrome     Discrete subaortic stenosis

    10/22 Novoseek disease relationships for NPHS2 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphs1 95.9 82 15338398 (9), 17371932 (6), 11854170 (5), 17211152 (4) (see all 30)
    glomerulosclerosis, focal segmental 93.2 39 11729243 (2), 11854170 (2), 16752799 (2), 17942957 (2) (see all 26)
    nephrotic syndrome 92.6 186 15503167 (5), 17371932 (4), 11729243 (4), 16291839 (3) (see all 91)
    proteinuria 85.5 69 15100730 (5), 12687458 (3), 18726620 (3), 20025681 (3) (see all 35)
    mesangial sclerosis, diffuse 78.1 2 15253708 (1), 18462046 (1)
    glomerulosclerosis 77.9 14 12608558 (2), 15509792 (2), 18823551 (1), 14701729 (1) (see all 9)
    nail-patella syndrome 71.3 1 11956245 (1)
    nephrosis 70.7 1 18499321 (1)
    renal disease 66.7 29 12506137 (3), 15149332 (2), 20025681 (2), 18385421 (2) (see all 19)
    nephrotic syndrome minimal change 65.9 3 19562271 (1), 16889564 (1), 20025681 (1)

    Genetic Association Database (GAD): NPHS2
    Human Genome Epidemiology (HuGE) Navigator: NPHS2 (39 documents)

    Export disorders for NPHS2 gene to outside databases

    Publications
    for NPHS2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPHS2 gene, integrated from 9 sources (see all 237):
    (articles sorted by number of sources associating them with NPHS2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PubMed id 10742096)1, 2, 3, 9 Boute N....Antignac C. (2000)
    2. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. (PubMed id 15769810)1, 4, 9 Yu Z....Yang J. (2005)
    3. Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. (PubMed id 15954915)1, 4, 9 Dusel J.A....Freedman B.I. (2005)
    4. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. (PubMed id 12687458)1, 4, 9 Maruyama K....Yoshikawa N. (2003)
    5. NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. (PubMed id 14871423)1, 4, 9 Pereira A.C....Krieger J.E. (2004)
    6. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)1, 4, 9 Iwai N....Shioji K. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese. (PubMed id 11241850)1, 4 Wu M.C....Tsai F.J. (2001)
    9. Interaction with podocin facilitates nephrin signaling. (PubMed id 11562357)1, 2 Huber T.B.... Benzing T. (2001)
    10. Correction to 'NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome' (PubMed id 10802674)1, 2 (2000)

    External Searches for NPHS2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing NPHS2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7827 HGNC: 13394 AceView: NPHS2 Ensembl:ENSG00000116218 euGenes: HUgn7827
    ECgene: NPHS2 H-InvDB: NPHS2

    Other Databases showing NPHS2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPHS2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPHS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPHS2

    Intellectual Property
    for NPHS2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPHS2 gene:
    Search GeneIP for patents involving NPHS2

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