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

Gene ID: 4693, updated on 3-Mar-2019

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
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

Genomic context

See NDP in Genome Data Viewer
Location:
Xp11.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 NDP antisense RNA 1 Neighboring gene RNA binding motif protein 39 pseudogene Neighboring gene EF-hand domain containing 2 Neighboring gene TatD DNase domain containing 2 pseudogene 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

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
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 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 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_000266.4NP_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
    Related
    ENSP00000367301.5, ENST00000378062.5
    Conserved Domains (1) summary
    smart00041
    Location:43129
    CT; C-terminal cystine knot-like domain (CTCK)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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