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

    Gene ID: 4693, updated on 21-Mar-2023

    Summary

    Official Symbol
    NDPprovided by HGNC
    Official Full Name
    norrin cystine knot growth factor NDPprovided by HGNC
    Primary source
    HGNC:HGNC:7678
    See related
    Ensembl:ENSG00000124479 MIM:300658; AllianceGenome:HGNC:7678
    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]
    Expression
    Biased expression in ovary (RPKM 17.5), endometrium (RPKM 9.6) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDP in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (43948776..43973390, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (43354970..43379584, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (43808022..43832636, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene monoamine oxidase A Neighboring gene monoamine oxidase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43808655-43809172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43809173-43809689 Neighboring gene NDP antisense RNA 1 Neighboring gene RBM39 pseudogene 1 Neighboring gene EF-hand domain containing 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:44111858-44112711

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Atrophia bulborum hereditaria
    MedGen: C0266526 OMIM: 310600 GeneReviews: Not available
    Compare labs
    Exudative vitreoretinopathy 2, X-linked
    MedGen: C1844579 OMIM: 305390 GeneReviews: Not available
    Compare labs

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cone retinal bipolar cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of blood-retinal barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutathione metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microglia differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microglial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in optic nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein targeting to lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in re-entry into mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina blood vessel maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal pigment epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal rod cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuole organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    norrin
    Names
    NDP, norrin cystine knot growth factor
    Norrie disease (pseudoglioma)
    X-linked exudative vitreoretinopathy 2 protein
    norrie disease protein

    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.

    Genomic

    1. NG_009832.1 RefSeqGene

      Range
      5286..29900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000266.4NP_000257.1  norrin precursor

      See identical proteins and their annotated locations for NP_000257.1

      Status: REVIEWED

      Source sequence(s)
      BC029901, X65882
      Consensus CDS
      CCDS14262.1
      UniProtKB/Swiss-Prot
      Q00604, Q5JYH5
      Related
      ENSP00000495972.1, ENST00000642620.1
      Conserved Domains (1) summary
      smart00041
      Location:43129
      CT; C-terminal cystine knot-like domain (CTCK)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      43948776..43973390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      43354970..43379584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)