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    Ndp Norrie disease (pseudoglioma) (human) [ Mus musculus (house mouse) ]

    Gene ID: 17986, updated on 4-Jul-2015
    Official Symbol
    Ndpprovided by MGI
    Official Full Name
    Norrie disease (pseudoglioma) (human)provided by MGI
    Primary source
    MGI:MGI:102570
    See related
    Ensembl:ENSMUSG00000040138; Vega:OTTMUSG00000016937
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ND; Ndph
    Summary
    This gene encodes a secreted protein that acts a ligand for multiple different receptors and participates in both Wnt and Wnt-independant signalling. Its activity is important in vascular development of the eye and inner ear. Mutation of the related gene in humans causes Norrie syndrome. [provided by RefSeq, May 2015]
    Orthologs
    Location:
    X A1.2; X 12.07 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) X NC_000086.7 (16885521..16911764, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (16462647..16488890, complement)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene monoamine oxidase A Neighboring gene monoamine oxidase B Neighboring gene uncharacterized LOC105243665 Neighboring gene EF-hand domain (C-terminal) containing 2 Neighboring gene TatD DNase domain containing 2 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    frizzled binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    norrin
    Names
    norrie disease protein homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010883.3NP_035013.1  norrin precursor

      See identical proteins and their annotated locations for NP_035013.1

      Status: REVIEWED

      Source sequence(s)
      BC090623, CJ062577
      Consensus CDS
      CCDS30034.1
      UniProtKB/Swiss-Prot
      P48744
      Related
      ENSMUSP00000046692, OTTMUSP00000018404, ENSMUST00000040134, OTTMUST00000041079
      Conserved Domains (1) summary
      smart00041
      Location:41127
      CT; C-terminal cystine knot-like domain (CTCK)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p3 C57BL/6J

      Range
      16885521..16911764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000042.1 Alternate Mm_Celera

      Range
      14501428..14528313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)