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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
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: HomoloGene, HGNC
  • Synonyms
    ESCS, PNR, rd7, RNR, RP37
  • Links
    NCBI Gene ID: 10002
    neXtProt AC: NX_Q9Y5X4

  • Chr Location
    15q23; chr15:71807197-71818666 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Nr2e3 mouse models; 2 with human NR2E3 associations

Human Disease Mouse Models
       Enhanced S-Cone Syndrome; ESCS   OMIM: 268100 View 2 models
       Retinitis Pigmentosa 37; RP37   OMIM: 611131
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
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    2 images
    24 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
    2
  • Spontaneous
    1
  • Targeted
    1
Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    22
  • GO References
    5
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
    191
  • Tissues
    166
  • cDNA Data
    49
  • Literature Summary
    25
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    161 from dbSNP Build 142
  • RFLP
    2
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011403 photoreceptor-specific nuclear receptor
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR003068 Transcription factor COUP
    IPR013088 Zinc finger, NHR/GATA-type
    IPR001628 Zinc finger, nuclear hormone receptor-type
Molecular
Reagents
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  • All nucleic 52
    cDNA 50
    Primer pair 2

    Microarray probesets 2
Other
Accession IDs
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MGI:1354383, MGI:2444464
References
more
  • Summaries
    All 69
    Developmental Gene Expression 25
    Diseases 3
    Gene Ontology 5
    Phenotypes 24
  • 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:216168 Wang JS, et al., Chromophore supply rate-limits mammalian photoreceptor dark adaptation. J Neurosci. 2014 Aug 20;34(34):11212-21
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
09/20/2016
MGI 6.05 		The Jackson Laboratory