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Rpe65
Gene Detail
Symbol

Name
ID
Rpe65
retinal pigment epithelium 65
MGI:98001
Synonyms
A930029L06Rik, Mord1, rd12
Feature Type
protein coding gene
Genetic Map
Chromosome 3
82.52 cM, cytoband H4
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr3:159599233-159624799 bp, + strand
From Ensembl annotation of GRCm38

  25567 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20108  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 3 zebrafish

HCOP human homology predictions: RPE65
Protein SuperFamily: carotenoid oxygenase
Gene Tree: Rpe65

Human
homologs
RPE65, retinal pigment epithelium-specific protein 65kDa
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6121
neXtProt AC: NX_Q16518

Human Synonyms: BCO3, LCA2, mRPE65, rd12, RP20, sRPE65

Human Chr (Location): 1p31; chr1:68428824-68449959 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human RPE65

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Chemically induced (ENU)(1) QTL(2) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Rpe65 (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(1)
Interactions
Rpe65 interacts with 1 marker (Mir125a)
Expression
Literature Summary: (6 records)
Data Summary: Results (96)    Tissues (95)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
cDNA source data(5)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rpe65 ; ZFIN rpe65a, rpe65b    NEW 
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(6) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000028174 (Evidence)
Entrez Gene 19892 (Evidence)
UniGene 131708
DFCI TC1598774
DoTS DT.102528786
NIA Mouse Gene Index U004029
EC 3.1.1.64
Consensus CDS Project CCDS38683.1
International Mouse Phenotyping Consortium Status Rpe65
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000028174 Ensembl Gene Model | MGI Sequence Detail 25567 C57BL/6J ±  kb
transcript ENSMUST00000029824 Ensembl | MGI Sequence Detail 1602 Not Applicable 
polypeptide ENSMUSP00000029824 Ensembl | MGI Sequence Detail 533 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(7) UniProt(2)
Polymorphisms
All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(93 from dbSNP Build 137)    SNPs within 2kb including multiple locations(103)
Protein-related
information
ResourceIDDescription
InterPro IPR004294 Carotenoid oxygenase
Protein Ontology PR:000014179 retinal pigment epithelium-specific 65 kDa protein
References
(Earliest) J:13626 Ferguson JM, et al., Stumpy. Mouse News Lett. 1973;49:23
(Latest) J:212133 Caprara C, et al., The erythropoietin receptor is not required for the development, function, and aging of rods and cells in the retinal periphery. Mol Vis. 2014;20:307-24
All references(169)
Disease annotation references (9)
Other
accession IDs
MGD-MRK-14024, MGI:1859912, MGI:1925068, MGI:2157075

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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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory