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NPHS2 Gene

protein-coding   GIFtS: 56
GCID: GC01M179519

Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin)

  See NPHS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin)1 2
PDCN2 5
SRN12 5
podocin2

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NPHS2 Gene:
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)

GeneCards Summary for NPHS2 Gene:
NPHS2 (nephrosis 2, idiopathic, steroid-resistant (podocin)) is a protein-coding gene. Diseases associated with NPHS2 include nephrotic syndrome, and nephrotic syndrome, type 2. An important paralog of this gene is STOML3.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 plasmidNPHS2 promoter sequence
   Search Chromatin IP Primers for NPHS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Secondary accessions: B1AM32 B1AM33 Q8N6Q5
Alternative splicing: 2 isoforms:  Q9NP85-1   Q9NP85-2   (N-glycosylated at Asn-287)

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

Explore proteomics data for NPHS2 at MOPED

Post-translational modifications: 

  • Isoform 2 is glycosylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NPHS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055440.1  
    ENSEMBL proteins: 
     ENSP00000356587   ENSP00000356588  
    Reactome Protein details: Q9NP85

    NPHS2 Human Recombinant Protein Products:

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    Novus Biologicals NPHS2 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NPHS2 

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    Search eBioscience for ELISAs for NPHS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR028509 Podocin
     IPR001107 Band_7
     IPR001972 Stomatin_fam
     IPR018080 Band_7/stomatin-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9NP85

    ProtoNet protein and cluster: Q9NP85

    1 Blocks protein domain: IPB001972 Stomatin

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


    Find genes that share domains with NPHS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12424224
         
    Find genes that share ontologies with NPHS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NPHS2:
     Increased cilium length after  

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nphs2):
     cardiovascular system  growth/size/body  homeostasis/metabolism  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with NPHS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nphs2tm1Antc for NPHS2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPHS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPHS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPHS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPHS2

    miRNA
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    miRTarBase miRNAs that target NPHS2:
    hsa-mir-335-5p (MIRT018421)

    Block miRNA regulation of human, mouse, rat NPHS2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NPHS2:
    hsa-miR-196a* hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidNPHS2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NPHS2

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    GenScript: all cDNA clones in your preferred vector: NPHS2 (NM_014625)
    Browse Sino Biological Human cDNA Clones
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    eBioscience FlowRNA Probe Sets ( VA6-14020) for NPHS2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PODO_HUMAN, Q9NP85: Isoform 1: Cell membrane; Peripheral membrane protein (Potential)
    PODO_HUMAN, Q9NP85: Isoform 2: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    cytosol2
    extracellular2
    nucleus2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0005911cell-cell junction IDA17675666
    GO:0031235intrinsic component of the cytoplasmic side of the plasma membrane IDA11786407

    Find genes that share ontologies with NPHS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NPHS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Nephrin/Neph1 signaling in the kidney podocyte
    Nephrin/Neph1 signaling in the kidney podocyte


    Find genes that share SuperPaths with NPHS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for NPHS2
        Nephrin interactions


        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPHS2: 
              Nephrotoxicity in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPHS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPHS2 (Q9NP851, 3 ENSP000003565874) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    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:    About this table

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

    Find genes that share ontologies with NPHS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NPHS2 (PODO)

    8 Novoseek inferred 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)



    Find genes that share compounds with NPHS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Block miRNA regulation of human, mouse, rat NPHS2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NPHS2:
    hsa-miR-196a* hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidNPHS2 3' UTR sequence
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA6-14020) for NPHS2 

    Additional mRNA sequence: 

    AJ279254.1 BC029141.1 

    2 DOTS entries:

    DT.75100874  DT.100009151 

    Selected AceView cDNA sequences (see all 25):

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

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NPHS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGAGGGAG
    NPHS2 Expression
    About this image


    NPHS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 8 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
             Adult human kidney epithelial cells
             Renal-like cells
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Liver (Hepatobiliary System)
    NPHS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPHS2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NPHS2: 
              Nephrotoxicity in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NPHS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHS2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NPHS2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nphs21 , 5 nephrosis 2 homolog, podocin (human)5
    nephrosis 2, podocin1
    85.91(n)1
    88.12(a)1
      1 (67.71 cM)5
    1704841  NM_130456.31  NP_569723.11 
     1563107355 
    chicken
    (Gallus gallus)
    Aves NPHS21 nephrosis 2, idiopathic, steroid-resistant (podocin) 66.39(n)
    62.88(a)
      424422  XM_422265.3  XP_422265.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPHS26
    nephrosis 2, idiopathic, steroid-resistant (podoci...
    58(a)
    1 ↔ 1
    GL343300.1(1028329-1041608)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nphs21 nephrosis 2, idiopathic, steroid-resistant (podocin) 62.02(n)
    59.59(a)
      100498000  XM_002936967.2  XP_002937013.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nphs21 nephrosis 2, idiopathic, steroid-resistant (podocin) 53.71(n)
    46.48(a)
      557914  NM_001018145.1  NP_001018155.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425406
    --
    27(a)
    1 → many
    3L(4556087-4592295)
    worm
    (Caenorhabditis elegans)
    Secernentea sto-13 Erythrocyte band 7 integral membrane
    protein (human)
    40(a)
    (best of 2)
      X(7598140-7599702)   --


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

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

    Find genes that share paralogs with NPHS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NPHS2 (see all 471)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743153441,2,,4
    CNephrotic syndrome 2 (NPHS2)4 pathogenic1186099186(-) GACTCC/TGCACA 2 P L mis10--------
    VAR_0102334
    Nephrotic syndrome 2 (NPHS2)4--see VAR_0102332 R Q mis40--------
    VAR_0102354
    Nephrotic syndrome 2 (NPHS2)4--see VAR_0102352 V M mis40--------
    VAR_0102324
    Nephrotic syndrome 2 (NPHS2)4--see VAR_0102322 G C mis40--------
    rs743153481,2,4
    Nephrotic syndrome 2 (NPHS2)4--see VAR_0102362 mis40--------
    VAR_0102344
    Nephrotic syndrome 2 (NPHS2)4--see VAR_0102342 D G mis40--------
    rs743153471,2
    Cpathogenic1186080607(-) AGATCA/GTGACC 2 M V mis10--------
    rs743153461,2
    Cpathogenic1186083114(-) CCTGGA/GTACCT 2 D G mis10--------
    rs743153421,2
    C,Fpathogenic1186084707(-) ATTCCG/AACTGG 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5817
    rs743153431,2
    Cpathogenic1186084708(-) TATTCC/TGACTG 2 R * stg10--------

    HapMap Linkage Disequilibrium report for NPHS2 (179519674 - 179545087 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NPHS2: --
    Human Gene Mutation Database (HGMD): NPHS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPHS2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHS2

    (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.)
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    OMIM gene information: 604766   
    OMIM disorders: 600995  
    UniProtKB/Swiss-Prot: PODO_HUMAN, Q9NP85
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 15 diseases for NPHS2:    
    About MalaCards
    nephrotic syndrome    nephrotic syndrome, type 2    steroid-resistant nephrotic syndrome    sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
    sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis    familial idiopathic steroid-resistant nephrotic syndrome with minimal changes    discrete subaortic stenosis    nephrosis
    nail-patella syndrome    familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis    ichthyosis vulgaris    proteinuria
    denys-drash syndrome    glomerulosclerosis    focal segmental glomerulosclerosis

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

    Find genes that share disorders with NPHS2           About GenesLikeMe

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for NPHS2 gene, integrated from 10 sources (see all 246):
    (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. (Nat. Genet. 2000)
    2. Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome. (PubMed id 16572591)1, 4, 9 Oleggini R....Ghiggeri G.M. (Gene Expr. 2006)
    3. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. (PubMed id 15769810)1, 4, 9 Yu Z....Yang J. (Nephrol. Dial. Transplant. 2005)
    4. NPHS2 mutations in children with steroid-resistant nephrotic syndrome. (PubMed id 19395786)1, 4, 9 Otukesh H....Rahiminia A. (Iran J Kidney Dis 2009)
    5. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. (PubMed id 18216321)1, 4, 9 Hinkes B....Hildebrandt F. (J. Am. Soc. Nephrol. 2008)
    6. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PubMed id 17899208)1, 4, 9 Berdeli A....Cakar N. (Pediatr. Nephrol. 2007)
    7. 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. (Kidney Int. 2005)
    8. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. (PubMed id 18543005)1, 4, 9 Chernin G....Hildebrandt F. (Pediatr. Nephrol. 2008)
    9. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. (PubMed id 12687458)1, 4, 9 Maruyama K....Yoshikawa N. (Pediatr. Nephrol. 2003)
    10. Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy. (PubMed id 20025681)1, 4, 9 Zhu L....Wang H.Y. (Nephrology (Carlton) 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NPHS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NPHS2[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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