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ZIRC
ZFIN ID: ZDB-GENE-051102-2
Gene Name: NPHS2 stomatin family member, podocin
Gene Symbol: nphs2
Sequence Ontology ID : SO:0001217

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

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(Including Attributions)
Location: Chr: 22 Mapping Details/Browsers
Nomenclature History
AUTOMATED 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  ...
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)
  • Targeting reagents:
    DISEASE ASSOCIATED WITH nphs2 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    nephrotic syndrome type 2 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
  • InterPro:IPR001107 (1)
  • InterPro:IPR001972 (1)
  • InterPro:IPR036013 (1)
  • Pfam:PF01145 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    ncRNA nphs2-002 (1) 535
    mRNA nphs2-202 (1) 1491
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDS No data available
    MARKER RELATIONSHIPS
    nphs2 Contained in: [BAC] DKEY-171O17 (1) (order this)
    nphs2 Encodes: [cDNA] MGC:162424 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001018145 (1) 1356 bp
    Genomic GenBank:CR381682 (1) 106921 bp
    Select Tool
    Polypeptide UniProtKB:Q1L982 (1) 406 aa
    Sequence Clusters UniGene:12280 (1)
    Sequence Information (all 19)
    ORTHOLOGY for nphs2 ( Chr: 22 )
    CITATIONS (54)