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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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:43808022-43832921 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NDP

Alleles and phenotypes

All 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)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	canonical Wnt receptor signaling pathway, extracellular matrix-cell signaling, ...
Component	extracellular matrix, extracellular region, ...
Function	cell surface binding, cytokine activity, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (102)    Tissues (55)    Images (41)
Theiler Stages: 17, 20, 22, 23, 26, 28

Assay Type	Results
RNA in situ	33
In situ reporter (knock in)	61
Northern blot	8

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Ndp

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016937	VEGA Gene Model | MGI Sequence Detail	26254	C57BL/6J
transcript	OTTMUST00000041079	VEGA | MGI Sequence Detail	1939	Not Applicable
polypeptide	OTTMUSP00000018404	VEGA | MGI Sequence Detail	131	Not Applicable

All sequences(16) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(27 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-19452