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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

Gene Tree: Ndp

Human
homologs
Human Homolog NDP, Norrie disease (pseudoglioma)
NCBI Gene ID 4693
neXtProt AC  NX_Q00604
Human Synonyms  EVR2, FEVR, ND
Human Chr (Location)  Xp11.4; chrX:43948776-43973675 (-)  GRCh38
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 Using Mouse Ndp (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Ndp interacts with 151 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(15) Genomic(8) cDNA(7)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000016937 (Evidence)
Ensembl Gene ModelENSMUSG00000040138 (Evidence)
Entrez Gene17986 (Evidence)
UniGene5014
DFCITC1584951
DoTSDT.87072238
NIA Mouse Gene IndexU039282
Consensus CDS ProjectCCDS30034.1
International Mouse Knockout Project StatusNdp
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(16) 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:3002 Einerhand MP, et al., IL-6 production by retrovirus packaging cells and cultured bone marrow cells. Hum Gene Ther. 1991 Winter;2(4):301-6
(Latest) J:192563 McNeill B, et al., Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal. Hum Mol Genet. 2013 Mar 1;22(5):1005-16
All references(51)
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
12/09/2014
MGI 5.20
The Jackson Laboratory