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Nr2e3 Gene Detail
Summary
  • Symbol
    Nr2e3
  • Name
    nuclear receptor subfamily 2, group E, member 3
  • Synonyms
    photoreceptor-specific nuclear receptor, Pnr, RNR
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346317
    NCBI Gene: 23958
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr9:59942771-59960659 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      17889 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 32.35 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    NR2E3, nuclear receptor subfamily 2 group E member 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NR2E3, nuclear receptor subfamily 2 group E member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ESCS, PNR, rd7, RNR, RP37
  • Links
    NCBI Gene ID: 10002
    neXtProt AC: NX_Q9Y5X4
    UniProt: Q9Y5X4

  • Chr Location
    15q23; chr15:71810548-71818259 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Nr2e3 mouse models; 2 with human NR2E3 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    2 images
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    6
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    205
  • Tissues
    173
  • cDNA Data
    50
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023008 VEGA Gene Model | MGI Sequence Detail 17889 C57BL/6J ±  kb
    transcript OTTMUST00000055414 VEGA | MGI Sequence Detail 2037 Not Applicable  
    polypeptide OTTMUSP00000026535 VEGA | MGI Sequence Detail 395 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      161 from dbSNP Build 142
    • RFLP
      2
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 51
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1354383, MGI:2444464
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 29
      Diseases 2
      Gene Ontology 6
      Phenotypes 30
    • Earliest
      J:55816 Chang B, et al., A new mouse model of retinal dysplasia and degeneration (rd7). Invest Ophthalmol Vis Sci. 1998;39(4):S880 (Abstr.)
    • Latest
      J:263912 Kong Y, et al., A FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. Hum Mol Genet. 2018 Jun 27;
    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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    Send questions and comments to User Support.     		last database update
    09/11/2018
    MGI 6.12     		The Jackson Laboratory