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

Gene ID: 4693, updated on 29-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
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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)