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Aliases for NDP Gene

Aliases for NDP Gene

  • Norrie Disease (Pseudoglioma) 2 3 5
  • X-Linked Exudative Vitreoretinopathy 2 Protein 3 4
  • Norrie Disease Protein 3 4
  • EVR2 3 4
  • Exudative Vitreoretinopathy 2 (X-Linked) 2
  • FEVR 3
  • ND 3

External Ids for NDP Gene

Previous HGNC Symbols for NDP Gene

  • EVR2

Previous GeneCards Identifiers for NDP Gene

  • GC0XM041819
  • GC0XM042068
  • GC0XM042634
  • GC0XM042854
  • GC0XM043564
  • GC0XM043692
  • GC0XM043808
  • GC0XM041537

Summaries for NDP Gene

Entrez Gene Summary for NDP Gene

  • 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]

GeneCards Summary for NDP Gene

NDP (Norrie Disease (Pseudoglioma)) is a Protein Coding gene. Diseases associated with NDP include Norrie Disease and Exudative Vitreoretinopathy 2, X-Linked. Among its related pathways are Non-Canonical Wnt Pathway. GO annotations related to this gene include protein homodimerization activity and growth factor activity.

UniProtKB/Swiss-Prot for NDP Gene

  • Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

Gene Wiki entry for NDP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDP Gene

Genomics for NDP Gene

Regulatory Elements for NDP Gene

Enhancers for NDP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDP on UCSC Golden Path with GeneCards custom track

Promoters for NDP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDP on UCSC Golden Path with GeneCards custom track

Genomic Location for NDP Gene

Chromosome:
X
Start:
43,948,776 bp from pter
End:
43,973,675 bp from pter
Size:
24,900 bases
Orientation:
Minus strand

Genomic View for NDP Gene

Genes around NDP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDP Gene

Proteins for NDP Gene

  • Protein details for NDP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00604-NDP_HUMAN
    Recommended name:
    Norrin
    Protein Accession:
    Q00604
    Secondary Accessions:
    • B2R8K6
    • Q5JYH5

    Protein attributes for NDP Gene

    Size:
    133 amino acids
    Molecular mass:
    15044 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Component of a complex, at least composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with high affinity. Interacts with LRP6 (via Beta-propellers 1 and 2).

    Three dimensional structures from OCA and Proteopedia for NDP Gene

neXtProt entry for NDP Gene

Proteomics data for NDP Gene at MOPED

Post-translational modifications for NDP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NDP Gene

Domains & Families for NDP Gene

Gene Families for NDP Gene

Suggested Antigen Peptide Sequences for NDP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q00604

UniProtKB/Swiss-Prot:

NDP_HUMAN :
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
genes like me logo Genes that share domains with NDP: view

Function for NDP Gene

Molecular function for NDP Gene

GENATLAS Biochemistry:
norrin,Norrie disease protein,active during eye development,involved in retinal developmental vasculogenesis
UniProtKB/Swiss-Prot Function:
Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

Gene Ontology (GO) - Molecular Function for NDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17955262
genes like me logo Genes that share ontologies with NDP: view
genes like me logo Genes that share phenotypes with NDP: view

Human Phenotype Ontology for NDP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDP Gene

MGI Knock Outs for NDP:

Animal Model Products

miRNA for NDP Gene

miRTarBase miRNAs that target NDP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDP Gene

Localization for NDP Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDP Gene COMPARTMENTS Subcellular localization image for NDP gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for NDP Gene

Pathways & Interactions for NDP Gene

genes like me logo Genes that share pathways with NDP: view

Pathways by source for NDP Gene

2 Sino Biological pathways for NDP Gene

SIGNOR curated interactions for NDP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001890 placenta development IEA --
GO:0007033 vacuole organization TAS 10484772
GO:0007165 signal transduction TAS 8298646
GO:0007267 cell-cell signaling TAS 8298646
GO:0007399 nervous system development TAS 8252044
genes like me logo Genes that share ontologies with NDP: view

Drugs & Compounds for NDP Gene

(4) Drugs for NDP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NDP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NDP: view

Transcripts for NDP Gene

mRNA/cDNA for NDP Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NDP Gene

Norrie disease (pseudoglioma):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDP Gene

ExUns: 1 ^ 2a · 2b ^ 3
SP1: -
SP2:

Relevant External Links for NDP Gene

GeneLoc Exon Structure for
NDP
ECgene alternative splicing isoforms for
NDP

Expression for NDP Gene

mRNA expression in normal human tissues for NDP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDP Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.5), Brain - Amygdala (x4.4), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for NDP Gene

This gene is overexpressed in Ovary (60.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NDP Gene



SOURCE GeneReport for Unigene cluster for NDP Gene Hs.522615

mRNA Expression by UniProt/SwissProt for NDP Gene

Q00604-NDP_HUMAN
Tissue specificity: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
genes like me logo Genes that share expression patterns with NDP: view

Protein tissue co-expression partners for NDP Gene

- Elite partner

Primer Products

Orthologs for NDP Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDP 35
  • 91.98 (n)
  • 94.74 (a)
NDP 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDP 35
  • 91.73 (n)
  • 95.49 (a)
NDP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndp 35
  • 91.6 (n)
  • 95.42 (a)
Ndp 16
Ndp 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDP 35
  • 99 (n)
  • 99.25 (a)
NDP 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDP 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDP 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDP 35
  • 81.45 (n)
  • 87.22 (a)
NDP 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDP 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndp 35
  • 69.7 (n)
  • 77.27 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100003793 35
  • 67.24 (n)
  • 69.23 (a)
ndp 36
  • 61 (a)
OneToOne
Species with no ortholog for NDP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDP Gene

ENSEMBL:
Gene Tree for NDP (if available)
TreeFam:
Gene Tree for NDP (if available)

Paralogs for NDP Gene

No data available for Paralogs for NDP Gene

Variants for NDP Gene

Sequence variations from dbSNP and Humsavar for NDP Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_005478 Norrie disease (ND)
VAR_005479 Norrie disease (ND)
VAR_005480 Vitreoretinopathy, exudative 2 (EVR2)
VAR_005481 Vitreoretinopathy, exudative 2 (EVR2)
VAR_005482 Norrie disease (ND)

Variation tolerance for NDP Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDP Gene

Human Gene Mutation Database (HGMD)
NDP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDP Gene

Disorders for NDP Gene

MalaCards: The human disease database

(23) MalaCards diseases for NDP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
norrie disease
  • anderson-warburg syndrome
exudative vitreoretinopathy 2, x-linked
  • x-linked familial exudative vitreoretinopathy
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
persistent hyperplastic primary vitreous
  • phpv
ndp-related retinopathies
- elite association - COSMIC cancer census association via MalaCards
Search NDP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NDP_HUMAN
  • Norrie disease (ND) [MIM:310600]: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. {ECO:0000269 PubMed:10484772, ECO:0000269 PubMed:10544980, ECO:0000269 PubMed:11337749, ECO:0000269 PubMed:1303264, ECO:0000269 PubMed:1307245, ECO:0000269 PubMed:14635119, ECO:0000269 PubMed:15609522, ECO:0000269 PubMed:15776010, ECO:0000269 PubMed:16970763, ECO:0000269 PubMed:17128466, ECO:0000269 PubMed:17296899, ECO:0000269 PubMed:17325173, ECO:0000269 PubMed:17334993, ECO:0000269 PubMed:20340138, ECO:0000269 PubMed:7627181, ECO:0000269 PubMed:7662640, ECO:0000269 PubMed:7795608, ECO:0000269 PubMed:7993212, ECO:0000269 PubMed:8069314, ECO:0000269 PubMed:8268931, ECO:0000269 PubMed:8281159, ECO:0000269 PubMed:8589700, ECO:0000269 PubMed:8741107, ECO:0000269 PubMed:8807344, ECO:0000269 PubMed:8990009, ECO:0000269 PubMed:9143918, ECO:0000269 PubMed:9382152}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269 PubMed:16163268, ECO:0000269 PubMed:16970763, ECO:0000269 PubMed:17296899, ECO:0000269 PubMed:17325173, ECO:0000269 PubMed:8252044, ECO:0000269 PubMed:8946107, ECO:0000269 PubMed:9143917}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDP

Genetic Association Database (GAD)
NDP
Human Genome Epidemiology (HuGE) Navigator
NDP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDP
genes like me logo Genes that share disorders with NDP: view

No data available for Genatlas for NDP Gene

Publications for NDP Gene

  1. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. (PMID: 8252044) Chen Z.-Y. … Craig I.W. (Nat. Genet. 1993) 2 3 4 23 67
  2. Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. (PMID: 17955262) Qin M. … Hayashi K. (Hum. Genet. 2008) 3 23
  3. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. (PMID: 17296899) Wu W.-C. … Dailey W. (Arch. Ophthalmol. 2007) 3 23
  4. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. (PMID: 17325173) Kondo H. … Hayashi K. (Invest. Ophthalmol. Vis. Sci. 2007) 3 23
  5. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. (PMID: 17334993) Lev D. … Watemberg N. (Am. J. Med. Genet. A 2007) 3 23

Products for NDP Gene

Sources for NDP Gene

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