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Ndp
Gene Detail
Symbol

Name
ID
Ndp
Norrie disease (pseudoglioma) (human)
MGI:102570
Synonyms
ND, NDP, Ndph, Norrin
Feature Type
protein coding gene
Genetic Map
Chromosome X
12.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
ChrX:16885521-16911774 bp, - strand
From VEGA annotation of GRCm38

  26254 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:225  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NDP
Gene Tree: Ndp

Human
homologs
NDP, Norrie disease (pseudoglioma)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4693
neXtProt AC: NX_Q00604

Human Synonyms: EVR2, FEVR, ND

Human Chr (Location): Xp11.4; chrX:43948776-43973675 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human NDP

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
 
Male mice in which this X-linked gene has been inactivated exhibit retinopathy similar to that observed in patients with Norrie Disease (ND).
 
Human Diseases Modeled in Mice Using Ndp (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Ndp interacts with 150 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process canonical Wnt signaling pathway, extracellular matrix-cell signaling, ...
Component cell surface, extracellular matrix, ...
Function cytokine activity, frizzled binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (102)    Tissues (60)    Images (41)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 33
In situ reporter (knock in) 61
Northern blot 8
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA NDP    NEW 
Molecular
reagents
All nucleic(15) Genomic(8) cDNA(7)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000016937 (Evidence)
Ensembl Gene Model ENSMUSG00000040138 (Evidence)
Entrez Gene 17986 (Evidence)
UniGene 5014
DFCI TC1584951
DoTS DT.87072238
NIA Mouse Gene Index U039282
Consensus CDS Project CCDS30034.1
International Mouse Phenotyping Consortium Status Ndp
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016937 VEGA Gene Model | MGI Sequence Detail 26254 C57BL/6J ±  kb
transcript OTTMUST00000041079 VEGA | MGI Sequence Detail 1939 Not Applicable 
polypeptide OTTMUSP00000018404 VEGA | MGI Sequence Detail 131 Not Applicable 

For the selected sequences
All sequences(17) RefSeq(2) UniProt(1)
Polymorphisms
RFLP(1) : SNPs within 2kb(34 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006207 Cystine knot, C-terminal
InterPro IPR004133 DAN
InterPro IPR003064 Norrie disease protein
Protein Ontology PR:000011058 norrin
References
(Earliest) J:12702 Sims KB, et al., The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. Hum Mol Genet. 1992 May;1(2):83-9
(Latest) J:215763 Zhou Y, et al., Canonical WNT signaling components in vascular development and barrier formation. J Clin Invest. 2014 Sep 2;124(9):3825-46
All references(49)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-19452

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory