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Rpe65 Gene Detail
Summary
  • Symbol
    Rpe65
  • Name
    retinal pigment epithelium 65
  • Synonyms
    A930029L06Rik, Mord1, rd12
  • Feature Type
    protein coding gene
  • IDs
    MGI:98001
    NCBI Gene: 19892
  • Gene Overview
    MyGene.info: RPE65
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:159599175-159625321 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26147 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 82.52 cM, cytoband H4
  • Mapping Data
    12 experiments
Homology
more
  • Human Ortholog
    RPE65, RPE65, retinoid isomerohydrolase
  • Vertebrate Orthologs
    12
  • Human Ortholog
    RPE65, RPE65, retinoid isomerohydrolase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCO3, LCA2, mRPE65, p63, rd12, RP20, sRPE65
  • Links
    NCBI Gene ID: 6121
    neXtProt AC: NX_Q16518
    UniProt: Q16518

  • Chr Location
    1p31.3; chr1:68428822-68450322 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Rpe65 mouse models; 2 with human RPE65 associations

Human Disease Mouse Models
      
IDs
View 4 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 7 alleles in 8 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    152 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.
Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium.
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
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
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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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000052823 VEGA Gene Model | MGI Sequence Detail 26147 C57BL/6J ±  kb
    transcript OTTMUST00000132202 VEGA | MGI Sequence Detail 1863 Not Applicable  
    polypeptide OTTMUSP00000070514 VEGA | MGI Sequence Detail 533 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      81 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      Genomic 1
      cDNA 7
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14024, MGI:1859912, MGI:1925068, MGI:2157075
    References
    more
    • Summaries
      All 208
      Developmental Gene Expression 10
      Diseases 10
      Gene Ontology 13
      Phenotypes 152
    • Earliest
      J:17610 Hamel CP, et al., The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. Genomics. 1994 Apr;20(3):509-12
    • Latest
      J:265177 Dannhausen K, et al., Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. Dis Model Mech. 2018 Sep 5;11(9)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory