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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:16751760-16778013 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 12.07 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    556 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102570
 protein coding gene ChrX:16751760-16778013 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035581
 protein coding gene ChrX:11750292-11775771 (-)
A/J MGP_AJ_G0035558
 protein coding gene ChrX:11846779-11874190 (-)
AKR/J MGP_AKRJ_G0035490
 protein coding gene ChrX:12222954-12249004 (-)
BALB/cJ MGP_BALBcJ_G0035551
 protein coding gene ChrX:11647829-11674013 (-)
C3H/HeJ MGP_C3HHeJ_G0035268
 protein coding gene ChrX:11873087-11901360 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036086
 protein coding gene ChrX:12037632-12063301 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032951
 protein coding gene ChrX:10395972-10420561 (-)
CAST/EiJ MGP_CASTEiJ_G0034560
 protein coding gene ChrX:11439637-11466029 (-)
CBA/J MGP_CBAJ_G0035237
 protein coding gene ChrX:12589483-12614688 (-)
DBA/2J MGP_DBA2J_G0035389
 protein coding gene ChrX:11676341-11702243 (-)
FVB/NJ MGP_FVBNJ_G0035336
 protein coding gene ChrX:11562717-11589656 (-)
LP/J MGP_LPJ_G0035471
 protein coding gene ChrX:12033156-12060242 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035380
 protein coding gene ChrX:12732105-12761997 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036093
 protein coding gene ChrX:11668604-11694330 (-)
PWK/PhJ MGP_PWKPhJ_G0034261
 protein coding gene ChrX:11004092-11030243 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034100
 protein coding gene ChrX:11673142-11701294 (-)
WSB/EiJ MGP_WSBEiJ_G0034695
 protein coding gene ChrX:11642704-11670848 (-)



Homology
more
  • Human Ortholog
    NDP, norrin cystine knot growth factor NDP
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NDP, norrin cystine knot growth factor NDP
  • Synonyms
    EVR2, FEVR, ND
  • Links
    NCBI Gene ID: 4693
    neXtProt AC: NX_Q00604
    UniProt: Q00604

  • Chr Location
    Xp11.3; chrX:43948776-43973395 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ndp mouse models; 3 with human NDP associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    31 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    47 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.
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
less
  • All GO Annotations
    90
  • GO References
    23
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    811
  • Tissues
    62
  • cDNA Data
    8
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17986 NCBI Gene Model | MGI Sequence Detail 26254 C57BL/6J ±  kb
    transcript NM_010883 RefSeq | MGI Sequence Detail 1962 ZRU/MplStud  
    polypeptide P48744 UniProt | EBI | MGI Sequence Detail 131 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 8
      cDNA 8
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19452
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 11
      Diseases 3
      Gene Ontology 23
      Phenotypes 47
    • 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:357358 Pauzuolyte V, et al., Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Mol Med. 2023 Oct 11;15(10):e17393
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory