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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:159304812-159330958 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 82.52 cM, cytoband H4
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    518 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98001
 protein coding gene Chr3:159304712-159330958 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028019
 protein coding gene Chr3:163748583-163771513 (+)
A/J MGP_AJ_G0027977
 protein coding gene Chr3:157854696-157881280 (+)
AKR/J MGP_AKRJ_G0027943
 protein coding gene Chr3:162005940-162033839 (+)
BALB/cJ MGP_BALBcJ_G0027989
 protein coding gene Chr3:157652379-157683788 (+)
C3H/HeJ MGP_C3HHeJ_G0027719
 protein coding gene Chr3:162397782-162420987 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028432
 protein coding gene Chr3:169144230-169172311 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025771
 protein coding gene Chr3:152281295-152301490 (+)
CAST/EiJ MGP_CASTEiJ_G0027172
 protein coding gene Chr3:162512765-162533051 (+)
CBA/J MGP_CBAJ_G0027694
 protein coding gene Chr3:175101806-175132746 (+)
DBA/2J MGP_DBA2J_G0027834
 protein coding gene Chr3:156857940-156880749 (+)
FVB/NJ MGP_FVBNJ_G0027801
 protein coding gene Chr3:154193304-154219292 (+)
LP/J MGP_LPJ_G0027945
 protein coding gene Chr3:165116334-165144016 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027834
 protein coding gene Chr3:183932675-183966201 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028491
 protein coding gene Chr3:161639450-161661059 (+)
PWK/PhJ MGP_PWKPhJ_G0026895
 protein coding gene Chr3:156755477-156780221 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026723
 protein coding gene Chr3:159902597-159909667 (+)
WSB/EiJ MGP_WSBEiJ_G0027252
 protein coding gene Chr3:162616771-162642555 (+)



Homology
more
  • Human Ortholog
    RPE65, retinoid isomerohydrolase RPE65
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RPE65, retinoid isomerohydrolase RPE65
  • Synonyms
    BCO3, LCA2, mRPE65, p63, rd12, RP20, sRPE65
  • Links
    NCBI Gene ID: 6121
    neXtProt AC: NX_Q16518
    UniProt: Q16518

  • Chr Location
    1p31.3; chr1:68428822-68451103 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Rpe65 mouse models; 4 with human RPE65 associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 1 model
      
IDs
 View 2 models
IDs
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
    31 phenotypes from 8 alleles in 10 genetic backgrounds
    12 phenotypes from multigenic genotypes
    4 images
    212 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.
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
less
  • All GO Annotations
    40
  • GO References
    9
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
    844
  • Tissues
    108
  • cDNA Data
    6
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028174 Ensembl Gene Model | MGI Sequence Detail 26147 C57BL/6J ±  kb
    transcript ENSMUST00000029824 Ensembl | MGI Sequence Detail 1602 Not Applicable  
    polypeptide ENSMUSP00000029824 Ensembl | MGI Sequence Detail 533 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 1
      cDNA 7
      Primer pair 6

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14024, MGI:1859912, MGI:1925068, MGI:2157075
    References
    more
    • Summaries
      All 276
      Developmental Gene Expression 16
      Diseases 10
      Gene Ontology 9
      Phenotypes 212
    • 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:353034 Du SW, et al., Conditional deletion of miR-204 and miR-211 in murine retinal pigment epithelium results in retinal degeneration. J Biol Chem. 2024 May 4;300(6):107344
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory