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Ndp Gene Detail
Summary
  • Symbol
    Ndp
  • Name
    Norrie disease (pseudoglioma) (human)
  • Synonyms
    ND, NDP, Ndph, Norrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:102570
    NCBI Gene: 17986
  • Gene Overview
    MyGene.info: NDP
Location & Maps
more
  • Sequence Map
    ChrX:16885521-16911774 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26254 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 12.07 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    NDP, NDP, norrin cystine knot growth factor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NDP, NDP, norrin cystine knot growth factor
    Orthology source: HomoloGene
  • Synonyms
    EVR2, FEVR, ND
  • Links
    NCBI Gene ID: 4693
    neXtProt AC: NX_Q00604

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

  • HomoloGene
    Vertebrate Homology Class 225
    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 Diseases
more
  • Diseases
    2 with Ndp mouse models; 2 with human NDP associations

Human Disease Mouse Models
       Exudative Vitreoretinopathy 2, X-Linked; EVR2   OMIM: 305390 View 1 model
Norrie Disease; ND   OMIM: 310600 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and 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).
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    34 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    Genomic 8
    cDNA 7

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-19452
References
more
  • Summaries
    All 48
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 5
    Phenotypes 23
  • 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:230295 Rattner A, et al., The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling. Invest Ophthalmol Vis Sci. 2014 Dec;55(12):8614-25

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory