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

    Gene ID: 17986, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ndpprovided by MGI
    Official Full Name
    Norrie disease (pseudoglioma) (human)provided by MGI
    Primary source
    MGI:MGI:102570
    See related
    Ensembl:ENSMUSG00000040138 AllianceGenome:MGI:102570
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; 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]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 4.4), frontal lobe adult (RPKM 4.3) and 11 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ndp in Genome Data Viewer
    Location:
    X A1.2; X 12.07 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (16751760..16778013, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (16885521..16911774, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:16196670-16196853 Neighboring gene STARR-seq mESC enhancer starr_46819 Neighboring gene monoamine oxidase A Neighboring gene monoamine oxidase B Neighboring gene STARR-seq mESC enhancer starr_46820 Neighboring gene STARR-seq mESC enhancer starr_46821 Neighboring gene STARR-seq mESC enhancer starr_46822 Neighboring gene predicted gene 4203 Neighboring gene EF-hand domain (C-terminal) containing 2 Neighboring gene predicted gene, 35105 Neighboring gene TatD DNase domain containing 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables frizzled binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Norrin signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cone retinal bipolar cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment of blood-brain barrier IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within establishment of blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment of blood-retinal barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glutathione metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glycine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microglia differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microglial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural retina development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within neural retina development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within optic nerve development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within placenta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein targeting to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within re-entry into mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to axon injury IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina blood vessel maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina layer formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina morphogenesis in camera-type eye IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature development in camera-type eye IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retinal blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retinal ganglion cell axon guidance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within retinal pigment epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retinal rod cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within serine family amino acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within tricarboxylic acid cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ubiquitin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    norrin
    Names
    norrie disease protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q5CZY6
      Related
      ENSMUSP00000046692.8, ENSMUST00000040134.8
      Conserved Domains (1) summary
      smart00041
      Location:41127
      CT; C-terminal cystine knot-like domain (CTCK)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      16751760..16778013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)