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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDP Gene

protein-coding   GIFtS: 58
GCID: GC0XM043808

Norrie Disease (Pseudoglioma)

(Previous name: exudative vitreoretinopathy 2 (X-linked))
(Previous symbol: EVR2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Norrie Disease (Pseudoglioma)1 2     ND2 5
EVR21 2 3     Exudative Vitreoretinopathy 2 (X-Linked)1
Norrie Disease Protein2 3     FEVR2
X-Linked Exudative Vitreoretinopathy 2 Protein2 3     norrin2

External Ids:    HGNC: 76781   Entrez Gene: 46932   Ensembl: ENSG000001244797   OMIM: 3006585   UniProtKB: Q006043   

Export aliases for NDP gene to outside databases

Previous GC identifers: GC0XM041819 GC0XM042068 GC0XM042634 GC0XM042854 GC0XM043564 GC0XM043692 GC0XM041537


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include cytokine activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: NDP_HUMAN, Q00604
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 Wiki entry for NDP (Norrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDP gene promoter:
         SRF   GR   SRF (504 AA)   p300   Nkx2-5   Evi-1   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDP promoter sequence
   Search SABiosciences Chromatin IP Primers for NDP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.3   HGNC cytogenetic band: Xp11.4-p11.3

NDP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDP gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM043808:  view genomic region     (about GC identifiers)

Start:
43,808,022 bp from pter      End:
43,832,921 bp from pter
Size:
24,900 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NDP_HUMAN, Q00604 (See protein sequence)
Recommended Name: Norrin precursor  
Size: 133 amino acids; 15044 Da
Subunit: Interacts with FZD4. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By
similarity). Oligomer; disulfide-linked
Subcellular location: Secreted
Secondary accessions: B2R8K6 Q5JYH5

Explore the universe of human proteins at neXtProt for NDP: NX_Q00604

Explore proteomics data for NDP at MOPED 

NDP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NDP Protein Expression

REFSEQ proteins: NP_000257.1  
ENSEMBL proteins: 
 ENSP00000367301  

Human Recombinant Protein Products for NDP: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for NDP (Norrin)
Browse recombinant and purified proteins available from Enzo Life Sciences
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OriGene Protein Over-expression Lysate for NDP
OriGene Custom MassSpec 
OriGene Custom Protein Services for NDP
GenScript Custom Purified and Recombinant Proteins Services for NDP
Novus Biologicals NDP Proteins
Novus Biologicals NDP Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IDA17955262
GO:0009986cell surface IDA17955262
GO:0031012extracellular matrix IDA15035989

NDP for ontologies           About GeneDecksing



NDP Antibody Products: 
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LSBio Antibodies in human, mouse, rat for NDP 

Assay Products for NDP: 
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Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
ENDOLIG: Endogenous ligands

3 InterPro protein domains:
 IPR006207 Cys_knot_C
 IPR003064 Norrie_dis
 IPR006208 Cys_knot

Graphical View of Domain Structure for InterPro Entry Q00604

ProtoNet protein and cluster: Q00604

3 Blocks protein domains:
IPB002400 Growth factor cystine knot superfamily signature
IPB003064 Norrie disease protein signature
IPB006208 Cystine knot domain


UniProtKB/Swiss-Prot: NDP_HUMAN, Q00604
Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain


NDP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NDP_HUMAN, Q00604
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

     Genatlas biochemistry entry for NDP:
norrin,Norrie disease protein,active during eye development,involved in retinal developmental vasculogenesis

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005109frizzled binding IPI17955262
GO:0005125cytokine activity IEA--
GO:0008083growth factor activity TAS8298646
GO:0042803protein homodimerization activity IPI17955262
     
NDP for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for NDP:
 Cell cycle / mitosis defect  Increased cell death HMECs cel 

     9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ndp):
 behavior/neurological  cardiovascular system  hearing/vestibular/ear  nervous system  no phenotypic analysis 
 pigmentation  reproductive system  skeleton  vision/eye 

NDP for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for NDP: Ndptm2Nat Ndptm1Wbrg

   inGenious Targeting Laboratory - Custom generated mouse model solutions for NDP 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NDP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NDP 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NDP 

miRNA
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8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate NDP (see all 20):
hsa-miR-148b hsa-miR-15a hsa-miR-515-5p hsa-miR-223 hsa-miR-424 hsa-miR-532-5p hsa-miR-195 hsa-miR-15b
SwitchGear 3'UTR luciferase reporter plasmidNDP 3' UTR sequence
Inhib. RNA
Products:
    
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Gene Editing
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Clone
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NDP (NM_000266)
Sino Biological Human cDNA Clone for NDP
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDP
Sirion Biotech Customized lentivirus for stable overexpression of NDP 
                     Customized lentivirus expression plasmids for stable overexpression of NDP 

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDP


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NDP

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/7 Interacting proteins for NDP (Q006043 ENSP000003673014) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
LRP5O751973, ENSP000002943044I2D: score=1 STRING: ENSP00000294304
TSPAN12O958593, ENSP000002227474I2D: score=1 STRING: ENSP00000222747
FZD4Q9ULV13I2D: score=1 
LGALS8ENSP000003095764STRING: ENSP00000309576
PPP1CAENSP000003260314STRING: ENSP00000326031
About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001890placenta development IEA--
GO:0007033vacuole organization TAS10484772
GO:0007165signal transduction TAS8298646
GO:0007267cell-cell signaling TAS8298646
GO:0007399nervous system development TAS8252044

NDP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NDP for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NDP

6 Novoseek inferred chemical compound relationships for NDP gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
maoa 77.1 7 8541872 (2), 17431911 (2), 8252044 (1), 11385715 (1)
cystine 62.8 7 8298646 (2), 11328851 (1), 9003348 (1), 7627181 (1)
leucine 30.2 3 8946107 (2), 9143918 (1)
cysteine 24.6 7 15806314 (2), 17296899 (1), 9407136 (1), 7627181 (1)
proline 13.3 3 11337749 (1), 15799735 (1)
arginine 9.28 4 8946107 (2), 15799735 (1)

Search CenterWatch for drugs/clinical trials and news about NDP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NDP gene: 
NM_000266.3  

Unigene Cluster for NDP:

Norrie disease (pseudoglioma)
Hs.522615  [show with all ESTs]
Unigene Representative Sequence: NM_000266
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000378062(uc004dga.3) ENST00000470584
miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NDP
8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate NDP (see all 20):
hsa-miR-148b hsa-miR-15a hsa-miR-515-5p hsa-miR-223 hsa-miR-424 hsa-miR-532-5p hsa-miR-195 hsa-miR-15b
SwitchGear 3'UTR luciferase reporter plasmidNDP 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for NDP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDP
Clone
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OriGene ORF clones in mouse, rat for NDP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NDP (NM_000266)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDP
Sirion Biotech Customized lentivirus for stable overexpression of NDP 
                     Customized lentivirus expression plasmids for stable overexpression of NDP 
Primer
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OriGene qPCR primer pairs and template standards for NDP
OriGene qSTAR qPCR primer pairs in human, mouse for NDP
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NDP
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDP
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDP

Additional mRNA sequence: 

AK313409.1 BC029901.1 X65724.1 X65882.1 

3 DOTS entries:

DT.312065  DT.100696118  DT.100720413 

24/75 AceView cDNA sequences (see all 75):

BE139596 NM_000266 CR594721 BI757146 AI277450 CD172002 AI129296 AW055236 
N59262 AA670439 BM931458 BF222594 BM927251 CR612479 BM719399 BM675589 
X65882 AI668943 BM684230 BM930067 BC029901 CD672867 CA309763 CA309245 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for NDP    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3
SP1:        -               
SP2:                        


ECgene alternative splicing isoforms for NDP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NDP expression in normal human tissues (normalized intensities)      NDP embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGCCAAAAT
NDP Expression
About this image


NDP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/11 selected tissues (see all 11) fully expand
 
 Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
         HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
         Normal Human Articular chondrocytes (NHAC)   
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Fetal Neuronal Stem Cells (NSC)   
         brain/forebrain/telencephalon   
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         HyStem+BMP4-induced MEL2 cells
 
 Smooth Muscle (Muscoskeletal System)
         Human Pulmonary Artery Smooth Muscle Cells (HPASMC)   
 
 Fibroblast (Uncategorized)
         Human Ovarian Fibroblasts (HOF)   

See NDP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDP

SOURCE GeneReport for Unigene cluster: Hs.522615

UniProtKB/Swiss-Prot: NDP_HUMAN, Q00604
Tissue specificity: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in
fetal and adult brain

    SABiosciences Expression via Pathway-Focused PCR Arrays including NDP: 
          Neurogenesis in human mouse rat
          Growth Factors in human mouse rat

Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NDP gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ndp1 , 5 Norrie disease (pseudoglioma) (human)1, 5 91.6(n)1
95.42(a)1
  X (12.07 cM)5
179861  NM_010883.21  NP_035013.11 
 168855215 
chicken
(Gallus gallus)
Aves NDP1 Norrie disease (pseudoglioma) 81.45(n)
87.22(a)
  418560  XM_003640506.1  XP_003640554.1 
lizard
(Anolis carolinensis)
Reptilia NDP6
Uncharacterized protein
89(a)
1 ↔ 1
3(135237657-135272503)
zebrafish
(Danio rerio)
Actinopterygii LOC1000037931 norrin-like 66.95(n)
68.64(a)
  100003793  XM_001338784.2  XP_001338820.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/474 SNPs in NDP are shown (see all 474)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0054894
Norrie disease (ND)4--see VAR_0054892 C S mis40--------
VAR_0640144
Norrie disease (ND)4--see VAR_0640142 C R mis40--------
VAR_0054804
Vitreoretinopathy, exudative 2 (EVR2)4--see VAR_0054802 R K mis40--------
VAR_0160514
Norrie disease (ND)4--see VAR_0160512 C G mis40--------
VAR_0055004
Vitreoretinopathy, exudative 2 (EVR2)4--see VAR_0055002 R G mis40--------
VAR_0160494
Norrie disease (ND)4--see VAR_0160492 S P mis40--------
VAR_0640204
Norrie disease (ND)4--see VAR_0640202 C R mis40--------
VAR_0054824
Norrie disease (ND)4--see VAR_0054822 Y C mis40--------
VAR_0054874
Norrie disease (ND)4--see VAR_0054872 A D mis40--------
VAR_0640084
Norrie disease (ND)4--see VAR_0640082 G E mis40--------

HapMap Linkage Disequilibrium report for NDP (43808022 - 43832921 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for NDP: --

Human Gene Mutation Database (HGMD): NDP

Locus Specific Mutation Databases (LSDB): NDP
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing NDP
DNA2.0 Custom Variant and Variant Library Synthesis for NDP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 300658   
OMIM disorders: 310600  305390  
UniProtKB/Swiss-Prot: NDP_HUMAN, Q00604
  • 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. 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/26 diseases for NDP (see all 26):    About MalaCards
    norrie disease    exudative vitreoretinopathy    x-linked familial exudative vitreoretinopathy    ndp-related retinopathies
    coats disease    exudative vitreoretinopathy, x-linked    retinopathy of prematurity    telangiectasis
    osteoporosis-pseudoglioma syndrome    retinoschisis    venous insufficiency    mental disorders
    klippel-trenaunay syndrome    eye disease    retinal detachment    retinal disease
    blindness    sensorineural hearing loss    night blindness    intellectual disability

    7 diseases from the University of Copenhagen DISEASES database for NDP:
    Exudative vitreoretinopathy     Retinopathy of prematurity     Blindness     Coats disease
    Retinal detachment     Intellectual disability     Sensorineural hearing loss

    NDP for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for NDP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    blindness congenital 91.7 1 8541872 (1)
    pseudoglioma 90.8 2 16035034 (1), 8314592 (1)
    coats disease 82 7 10484772 (2), 16035034 (1)
    retinal vascular 73.7 1 16123442 (1)
    prematurity 56.6 4 12546446 (1), 16035034 (1), 16052165 (1)
    retinopathy 55.3 6 12546446 (1), 16035034 (1), 16052165 (1)
    mental retardation 52 1 8541872 (1)
    eye diseases 49.5 1 8541872 (1)
    blindness 41.9 2 18978344 (1), 19177549 (1)
    epilepsy 6.79 1 11337749 (1)

    GeneTests: NDP
    GeneReviews: NDP
    Genetic Association Database (GAD): NDP
    Human Genome Epidemiology (HuGE) Navigator: NDP (7 documents)

    Export disorders for NDP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDP gene, integrated from 9 sources (see all 119):
    (articles sorted by number of sources associating them with NDP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. (PubMed id 8252044)1, 2, 3, 9 Chen Z.-Y.... Craig I.W. (1993)
    2. Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. (PubMed id 7993212)1, 2, 4 Joos K.M.... Stone E.M. (1994)
    3. Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix. (PubMed id 9407136)1, 2, 9 Perez-Vilar J. and Hill R.L. (1997)
    4. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. (PubMed id 10484772)1, 2, 9 Black G.C.M.... McLeod D. (1999)
    5. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. (PubMed id 16052165)1, 4, 9 Hutcheson K.A....Young T.L. (2005)
    6. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. (PubMed id 17296899)1, 2, 9 Wu W.C....Dailey W. (2007)
    7. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. (PubMed id 8298646)1, 2, 9 Meitinger T....Murken J. (1993)
    8. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. (PubMed id 17334993)1, 2, 9 Lev D....Watemberg N. (2007)
    9. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. (PubMed id 17325173)1, 2, 9 Kondo H....Hayashi K. (2007)
    10. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. (PubMed id 8946107)1, 2, 9 Johnson K....Ferrell R.E. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4693 HGNC: 7678 AceView: NDP Ensembl:ENSG00000124479 euGenes: HUgn4693
    ECgene: NDP H-InvDB: NDP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDP Pharmacogenomics, SNPs, Pathways
    Mutations of the NDP genehttp://www.retina-international.org/files/sci-news/ndgmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDP gene:
    Search GeneIP for patents involving NDP

    GeneCards and IP:
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