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Aliases for NDP Gene

Aliases for NDP Gene

  • Norrie Disease (Pseudoglioma) 2 3
  • X-Linked Exudative Vitreoretinopathy 2 Protein 3 4
  • Norrie Disease Protein 3 4
  • EVR2 3 4
  • ND 3 6
  • Exudative Vitreoretinopathy 2 (X-Linked) 2
  • Norrin 3
  • FEVR 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 and 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

Genomic Location for NDP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

No data available for DME Specific Peptides for NDP Gene

Domains for NDP Gene

Gene Families for NDP Gene

HGNC:

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 :
  • Q00604
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:0005109 frizzled binding IPI 17955262
GO:0005125 cytokine activity IEA --
GO:0005515 protein binding IPI 17955262
GO:0008083 growth factor activity TAS 8298646
GO:0042803 protein homodimerization activity IPI 17955262
genes like me logo Genes that share ontologies with NDP: view
genes like me logo Genes that share phenotypes with NDP: view

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 Targeting 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

Gene Ontology (GO) - Cellular Components for NDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 17955262
GO:0009986 cell surface IDA 17955262
GO:0031012 extracellular matrix IDA 15035989
genes like me logo Genes that share ontologies with NDP: view

Pathways 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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

Compounds for NDP Gene

(6) Novoseek inferred chemical compound relationships for NDP Gene

Compound -log(P) Hits PubMed IDs
maoa 77.1 6
cystine 62.8 5
leucine 30.2 3
cysteine 24.6 5
proline 13.3 2
genes like me logo Genes that share compounds with NDP: view

Transcripts for NDP Gene

mRNA/cDNA for NDP Gene

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

Unigene Clusters for NDP Gene

Norrie disease (pseudoglioma):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDP

Primer Products

Flow Cytometry Products

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) (4.5), Brain - Amygdala (4.4), and Brain - Nucleus accumbens (basal ganglia) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB 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 expressions with NDP: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia NDP 35
  • 99 (n)
  • 99.25 (a)
NDP 36
  • 99 (a)
OneToOne
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
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 MAF
rs209762 -- 43,954,437(-) GAGGA(A/G)GGGTG intron-variant
rs209763 -- 43,954,996(-) GGCTG(C/G)AGGGG intron-variant
rs209764 -- 43,960,344(-) AACAC(A/G)AAGGG intron-variant
rs209765 -- 43,961,759(-) ATACT(C/T)AAACT intron-variant
rs209766 -- 43,963,678(-) TTTCT(A/G)AATTA intron-variant

Relevant External Links for NDP Gene

HapMap Linkage Disequilibrium report
NDP
Human Gene Mutation Database (HGMD)
NDP
Locus Specific Mutation Databases (LSDB)
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

(2) OMIM Diseases for NDP Gene (300658)

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.

(10) Novoseek inferred disease relationships for NDP Gene

Disease -log(P) Hits PubMed IDs
blindness congenital 91.7 1
pseudoglioma 90.8 2
coats disease 82 3
retinal vascular 73.7 1
prematurity 56.6 3

Relevant External Links for NDP

GeneTests
NDP
GeneReviews
NDP
Genetic Association Database (GAD)
NDP
Human Genome Epidemiology (HuGE) Navigator
NDP
genes like me logo Genes that share disorders with NDP: view

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
  2. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. (PMID: 8298646) Meitinger T. … Murken J. (Nat. Genet. 1993) 3 4 23
  3. Mutations in the Norrie disease gene. (PMID: 7627181) Schuback D.E. … Sims K.B. (Hum. Mutat. 1995) 3 4 23
  4. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. (PMID: 7795608) Meindl A. … Meitinger T. (Hum. Mol. Genet. 1995) 3 4 23
  5. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. (PMID: 8946107) Johnson K. … Ferrell R.E. (Clin. Genet. 1996) 3 4 23

Products for NDP Gene

Sources for NDP Gene

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