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    NDP NDP, norrin cystine knot growth factor [ Homo sapiens (human) ]

    Gene ID: 4693, updated on 20-Apr-2017
    Official Symbol
    NDPprovided by HGNC
    Official Full Name
    NDP, norrin cystine knot growth factorprovided by HGNC
    Primary source
    HGNC:HGNC:7678
    See related
    Ensembl:ENSG00000124479 MIM:300658; Vega:OTTHUMG00000021391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ND; EVR2; FEVR
    Summary
    This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]
    Orthologs
    Location:
    Xp11.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (43948776..43973675, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (43808022..43832921, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene monoamine oxidase A Neighboring gene monoamine oxidase B Neighboring gene RNA binding motif protein 39 pseudogene Neighboring gene EF-hand domain containing 2 Neighboring gene TatD DNase domain containing 2 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-14)

    ClinGen Genome Curation PagePubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of Norrie disease protein (NDP) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    growth factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular matrix-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retina vasculature morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    vacuole organization TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    norrin
    Names
    Norrie disease (pseudoglioma)
    X-linked exudative vitreoretinopathy 2 protein
    norrie disease protein

    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.

    Genomic

    1. NG_009832.1 RefSeqGene

      Range
      5001..29900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000266.3NP_000257.1  norrin precursor

      See identical proteins and their annotated locations for NP_000257.1

      Status: REVIEWED

      Source sequence(s)
      BC029901, DA714180, X65882
      Consensus CDS
      CCDS14262.1
      UniProtKB/Swiss-Prot
      Q00604
      Related
      ENSP00000367301.5, OTTHUMP00000023168, ENST00000378062.5, OTTHUMT00000056309
      Conserved Domains (1) summary
      smart00041
      Location:43129
      CT; C-terminal cystine knot-like domain (CTCK)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      43948776..43973675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      43841148..43866049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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