ZFIN ID: ZDB-GENE-051102-2
Gene Name: NPHS2 stomatin family member, podocin
Gene Symbol: nphs2    Nomenclature History

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Previous Names: nphs2l (1), podocin (1), si:dkey-171o17.6

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 22 Mapping Details/Browsers
Description: Involved in pronephric glomerulus development. Predicted to localize to the plasma membrane. Used to study proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Is expressed in pronephric glomerular basement membrane; pronephric glomerulus; pronephric podocyte; pronephros; and renal glomerulus. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin).
Genome Resources: Alliance (1),  Gene:557914 (1),  Ensembl(GRCz11):ENSDARG00000042850 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa24139 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-nphs2 N/A 3
    MO2-nphs2 N/A 2
    MO3-nphs2 N/A 2
    DISEASE ASSOCIATED WITH nphs2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    nephrotic syndrome type 2 Alliance Nephrotic syndrome, type 2 600995
    DISEASE ASSOCIATED WITH nphs2 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    proteinuria WT + MO1-nphs2 standard conditions Kramer-Zucker et al., 2005
    AB + MO1-nphs2 standard conditions Sun et al., 2017
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pronephric glomerulus development (more)
    Cellular Component integral component of membrane (more)
    Molecular Function protein binding (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR001107 Band 7 domain
    Homologous_superfamily IPR036013 Band 7/SPFH domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA nphs2-202 (1)    Ensembl 1491
    ncRNA nphs2-002 (1) 535
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab2-nphs2 polyclonal Rabbit WB Sigma-Aldrich
    1
    Ab1-nphs2 polyclonal Rabbit IHC 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM nphs2
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(-2.5nphs2:EGFP) nphs2 EGFP Danio rerio 1 8
    tg(nphs2:cre-ert2) nphs2 CreERT2 Danio rerio 1 1
    Tg(nphs2:Eco.NfsB-mCherry) nphs2 mCherry Danio rerioEscherichia coli 1 10
    Tg(nphs2:EGFP) nphs2 EGFP Danio rerio 1 5
    Tg(nphs2:GAL4) nphs2 GAL4 Danio rerio 1 3
    Tg(nphs2:GAL4-VP16) nphs2 GAL4VP16 Danio rerio 1 4
    Tg(nphs2:GFP) nphs2 GFP Danio rerio 1 3
    Tg(nphs2:NTR-GFP) nphs2 GFPNTR Danio rerio 1 3
    Tg2(nphs2:GAL4) nphs2 GAL4 Danio rerio 2 2
    MARKER RELATIONSHIPS
    nphs2 Contained in: [BAC] DKEY-171O17 (1) (order this)
    nphs2 Encodes: [cDNA] MGC:162424 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001018145 (1) 1356 nt
    Genomic GenBank:CR381682 (1) 106921 nt
    Select Tool
    Polypeptide UniProtKB:Q1L982 (1) 406 aa
    Sequence Information (all 18)
    ORTHOLOGY for nphs2 ( Chr: 22 )
    CITATIONS (57)