The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid ca... See more...

Aliases for RPE65 Gene

Aliases for RPE65 Gene

  • Retinoid Isomerohydrolase RPE65 2 3 5
  • All-Trans-Retinyl-Palmitate Hydrolase 2 3 4
  • Retinol Isomerase 2 3 4
  • Retinal Pigment Epithelium-Specific 65 KDa Protein 3 4
  • Retinal Pigment Epithelium-Specific Protein 65kDa 2 3
  • Meso-Zeaxanthin Isomerase 3 4
  • Retinoid Isomerohydrolase 3 4
  • BCO Family, Member 3 2 3
  • Lutein Isomerase 3 4
  • Retinal Pigment Epithelium Specific Protein 65 3
  • Retinitis Pigmentosa 20 (Autosomal Recessive) 3
  • RPE65, Retinoid Isomerohydrolase 3
  • RBP-Binding Membrane Protein 3
  • EC 3.1.1.64 4
  • EC 5.3.3.22 4
  • MRPE65 3
  • SRPE65 3
  • BCO3 3
  • LCA2 3
  • Rd12 3
  • RP20 3
  • P63 3

External Ids for RPE65 Gene

Previous HGNC Symbols for RPE65 Gene

  • RP20

Previous GeneCards Identifiers for RPE65 Gene

  • GC01M069028
  • GC01M067812
  • GC01M068252
  • GC01M068264
  • GC01M068606
  • GC01M068667
  • GC01M068894
  • GC01M067004

Summaries for RPE65 Gene

Entrez Gene Summary for RPE65 Gene

  • The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]

GeneCards Summary for RPE65 Gene

RPE65 (Retinoid Isomerohydrolase RPE65) is a Protein Coding gene. Diseases associated with RPE65 include Retinitis Pigmentosa 20 and Leber Congenital Amaurosis 2. Among its related pathways are Drug metabolism - cytochrome P450 and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include retinal isomerase activity and all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity. An important paralog of this gene is BCO2.

UniProtKB/Swiss-Prot Summary for RPE65 Gene

  • Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).

Gene Wiki entry for RPE65 Gene

Additional gene information for RPE65 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPE65 Gene

Genomics for RPE65 Gene

GeneHancer (GH) Regulatory Elements for RPE65 Gene

Promoters and enhancers for RPE65 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J068449 Promoter/Enhancer 0.8 EPDnew Ensembl 500.7 +0.7 659 2.2 RAD21 POLR2A ZNF692 CTCF RPE65 piR-57133-025
GH01J068172 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9 +273.5 273519 7.6 EP300 ZSCAN5C JUND FOS ZIC2 REST TRIM28 RFX1 ZNF341 OSR2 WLS RPE65 IL12RB2 piR-38352-008 MIR1262 GNG12-AS1
GH01J068291 Enhancer 1.1 ENCODE CraniofacialAtlas 9.9 +156.7 156680 3.5 USF1 TEAD4 ZIC2 TRIM28 HES1 MYC CTBP1 ATF2 TAF9B HDAC2 HSALNG0004312 LOC105378782 MIR1262 RPE65 WLS lnc-GADD45A-8
GH01J068140 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 10.1 +308.4 308358 4 POLR2A NR2F2 CREB1 NR3C1 YY1 ZBTB33 JUND RAD21 MAX ATF2 MIR1262 RPE65 CTBP2P8 lnc-DIRAS3-1 WLS GNG12-AS1
GH01J068375 Enhancer 0.9 FANTOM5 Ensembl ENCODE 10.8 +72.3 72333 4.7 FOS REST JUND ZBTB48 ZNF398 JUN POLR2A ZBTB12 ZNF558 ELOCP18 lnc-RPE65-3 RPE65 WLS ENSG00000229440 lnc-RPE65-2 lnc-RPE65-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPE65 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPE65

Top Transcription factor binding sites by QIAGEN in the RPE65 gene promoter:
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-E2
  • NF-E2 p45
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for RPE65 Gene

Genomic Locations for RPE65 Gene
chr1:68,428,822-68,449,959
(GRCh38/hg38)
Size:
21,138 bases
Orientation:
Minus strand
chr1:68,894,505-68,915,642
(GRCh37/hg19)
Size:
21,138 bases
Orientation:
Minus strand

Genomic View for RPE65 Gene

Genes around RPE65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPE65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPE65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPE65 Gene

Proteins for RPE65 Gene

  • Protein details for RPE65 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16518-RPE65_HUMAN
    Recommended name:
    Retinoid isomerohydrolase
    Protein Accession:
    Q16518
    Secondary Accessions:
    • A8K1L0
    • Q5T9U3

    Protein attributes for RPE65 Gene

    Size:
    533 amino acids
    Molecular mass:
    60948 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.

neXtProt entry for RPE65 Gene

Post-translational modifications for RPE65 Gene

  • Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPE65 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPE65 Gene

Domains & Families for RPE65 Gene

Gene Families for RPE65 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for RPE65 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPE65 Gene

GenScript: Design optimal peptide antigens:
  • Retinal pigment epithelium-specific protein 65 kDa (C7FEP0_HUMAN)
  • Retinal pigment epithelium-specific protein (Q2EKB8_HUMAN)
  • Retinol isomerase (RPE65_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16518

UniProtKB/Swiss-Prot:

RPE65_HUMAN :
  • Belongs to the carotenoid oxygenase family.
Family:
  • Belongs to the carotenoid oxygenase family.
genes like me logo Genes that share domains with RPE65: view

Function for RPE65 Gene

Molecular function for RPE65 Gene

UniProtKB/Swiss-Prot Function:
Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an all-trans-retinyl ester + H2O = 11-cis-retinol + a fatty acid + H(+); Xref=Rhea:RHEA:31771, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16302, ChEBI:CHEBI:28868, ChEBI:CHEBI:63410; EC=3.1.1.64; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=lutein = (3R,3'S)-zeaxanthin; Xref=Rhea:RHEA:12729, ChEBI:CHEBI:28838, ChEBI:CHEBI:138919; EC=5.3.3.22; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinyl hexadecanoate + H2O = 11-cis-retinol + H(+) + hexadecanoate; Xref=Rhea:RHEA:31775, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16302, ChEBI:CHEBI:17616; EC=3.1.1.64; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.35 uM for all-trans-retinyl palmitate {ECO:0000269 PubMed:25112876}; Vmax=21 pmol/min/mg enzyme for all-trans-retinyl palmitate as substrate {ECO:0000269 PubMed:25112876};
GENATLAS Biochemistry:
retinal pigment epithelium-specific 65,major microsomal protein,minor role in the isomerisation of all-trans to 11-cis retinal,61kDa,associated with the endoplasmic reticulum,also expressed in renal tumor cells

Enzyme Numbers (IUBMB) for RPE65 Gene

Phenotypes From GWAS Catalog for RPE65 Gene

Gene Ontology (GO) - Molecular Function for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0004744 retinal isomerase activity IBA,ISS --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IDA,IEA 28874556
genes like me logo Genes that share ontologies with RPE65: view
genes like me logo Genes that share phenotypes with RPE65: view

Human Phenotype Ontology for RPE65 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPE65 Gene

MGI Knock Outs for RPE65:
  • Rpe65 Rpe65<tm1Tmr>
  • Rpe65 Rpe65<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RPE65 Gene

miRTarBase miRNAs that target RPE65

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for RPE65 Gene

Localization for RPE65 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPE65 Gene

Cytoplasm. Cell membrane; Lipid-anchor. Microsome membrane. Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells. {ECO:0000269 PubMed:19049981, ECO:0000269 PubMed:21493626}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPE65 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 29659842
GO:0005886 plasma membrane TAS --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with RPE65: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RPE65 Gene

Pathways & Interactions for RPE65 Gene

genes like me logo Genes that share pathways with RPE65: view

Pathways by source for RPE65 Gene

1 GeneGo (Thomson Reuters) pathway for RPE65 Gene
  • Retinol metabolism
1 Qiagen pathway for RPE65 Gene
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001895 retina homeostasis IMP 15557452
GO:0003407 neural retina development IEA --
GO:0006776 vitamin A metabolic process TAS 9326941
GO:0007468 regulation of rhodopsin gene expression IEA --
genes like me logo Genes that share ontologies with RPE65: view

No data available for SIGNOR curated interactions for RPE65 Gene

Drugs & Compounds for RPE65 Gene

(4) Drugs for RPE65 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra 658
Voretigene neparvovec Approved Pharma Target, gene replacement 0
Water Approved Pharma 0

(6) Additional Compounds for RPE65 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Retinyl ester
  • 56-Dihydroretinoic acid
  • all-e-Retinoic acid
  • 56-Dihydroretinoate
  • all-e-Retinoate
  • all-trans-Retinyl ester
genes like me logo Genes that share compounds with RPE65: view

Transcripts for RPE65 Gene

mRNA/cDNA for RPE65 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPE65 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: -

Relevant External Links for RPE65 Gene

GeneLoc Exon Structure for
RPE65

Expression for RPE65 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPE65 Gene

mRNA differential expression in normal tissues according to GTEx for RPE65 Gene

This gene is overexpressed in Brain - Substantia nigra (x13.0), Brain - Hypothalamus (x10.0), and Brain - Spinal cord (cervical c-1) (x4.0).

Protein differential expression in normal tissues from HIPED for RPE65 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RPE65 Gene



Protein tissue co-expression partners for RPE65 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPE65

SOURCE GeneReport for Unigene cluster for RPE65 Gene:

Hs.2133

mRNA Expression by UniProt/SwissProt for RPE65 Gene:

Q16518-RPE65_HUMAN
Tissue specificity: Retina (at protein level). Retinal pigment epithelium specific.

Evidence on tissue expression from TISSUES for RPE65 Gene

  • Eye(4.8)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPE65 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • olfactory bulb
  • outer ear
  • skull
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with RPE65: view

Orthologs for RPE65 Gene

This gene was present in the common ancestor of animals.

Orthologs for RPE65 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPE65 31 30
  • 95.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RPE65 31 30
  • 95.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPE65 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPE65 31 30
  • 91.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rpe65 17 31 30
  • 89.93 (n)
rat
(Rattus norvegicus)
Mammalia Rpe65 30
  • 89.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPE65 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPE65 31 30
  • 79.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPE65 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpe65 30
  • 75.55 (n)
Str.5401 30
African clawed frog
(Xenopus laevis)
Amphibia rpe65-prov 30
zebrafish
(Danio rerio)
Actinopterygii rpe65b 31
  • 75 (a)
OneToMany
rpe65a 31
  • 74 (a)
OneToMany
rpe65c 31 30
  • 69.93 (n)
OneToMany
zgc73213 30
fruit fly
(Drosophila melanogaster)
Insecta RPE65 32
  • 38 (a)
ninaB 31
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bcmo-1 31
  • 33 (a)
ManyToMany
F53C3.12 32
  • 33 (a)
Y46G5A.24 32
  • 33 (a)
bcmo-2 31
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.76 31
  • 37 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
CSA.9604 31
  • 36 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 33 (a)
ManyToMany
Species where no ortholog for RPE65 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPE65 Gene

ENSEMBL:
Gene Tree for RPE65 (if available)
TreeFam:
Gene Tree for RPE65 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPE65: view image

Paralogs for RPE65 Gene

Paralogs for RPE65 Gene

(3) SIMAP similar genes for RPE65 Gene using alignment to 5 proteins:

  • RPE65_HUMAN
  • C7FEP0_HUMAN
  • H9ND74_HUMAN
  • L8EC55_HUMAN
  • Q2EKB8_HUMAN
genes like me logo Genes that share paralogs with RPE65: view

Variants for RPE65 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPE65 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
560497 Uncertain Significance: Cone-rod dystrophy 68,444,593(-) C/G MISSENSE_VARIANT
593308 Uncertain Significance: not provided 68,444,577(-) T/C MISSENSE_VARIANT
593882 Uncertain Significance: not provided 68,448,614(-) C/T INTRON_VARIANT
636202 Uncertain Significance: Retinitis pigmentosa 68,444,800(-) T/C MISSENSE_VARIANT
647699 Uncertain Significance: Leber congenital amaurosis 2; Retinitis pigmentosa 20 68,431,477(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RPE65 Gene

Structural Variations from Database of Genomic Variants (DGV) for RPE65 Gene

Variant ID Type Subtype PubMed ID
nsv546450 CNV gain 21841781

Variation tolerance for RPE65 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPE65 Gene

Human Gene Mutation Database (HGMD)
RPE65
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPE65

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPE65 Gene

Disorders for RPE65 Gene

MalaCards: The human disease database

(67) MalaCards diseases for RPE65 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RPE65 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RPE65_HUMAN
  • Leber congenital amaurosis 2 (LCA2) [MIM:204100]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:10090910, ECO:0000269 PubMed:10766140, ECO:0000269 PubMed:11462243, ECO:0000269 PubMed:14611946, ECO:0000269 PubMed:14962443, ECO:0000269 PubMed:15024725, ECO:0000269 PubMed:16205573, ECO:0000269 PubMed:17297704, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:18682808, ECO:0000269 PubMed:28418496, ECO:0000269 PubMed:9326927, ECO:0000269 PubMed:9326941, ECO:0000269 PubMed:9801879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 20 (RP20) [MIM:613794]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:11095629, ECO:0000269 PubMed:12960219, ECO:0000269 PubMed:15557452, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:23878505, ECO:0000269 PubMed:9501220}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in RPE65 may be a cause of autosomal dominant retinitis pigmentosa with choroidal involvement. Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy. {ECO:0000269 PubMed:21654732, ECO:0000269 PubMed:27307694, ECO:0000269 PubMed:29659842, ECO:0000269 PubMed:30628748}.

Additional Disease Information for RPE65

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RPE65: view

No data available for Genatlas for RPE65 Gene

Publications for RPE65 Gene

  1. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F … Banfi S (Investigative ophthalmology & visual science 2007) 3 4 23 41 54
  2. RPE65 is the isomerohydrolase in the retinoid visual cycle. (PMID: 16116091) Moiseyev G … Ma JX (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4 23 54
  3. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 23 41 54
  4. Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. (PMID: 19049981) Takahashi Y … Ma JX (The Journal of biological chemistry 2009) 3 4 23 54
  5. Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (PMID: 18484312) Mamatha G … Kumaramanickavel G (Ophthalmic genetics 2008) 3 23 41 54

Products for RPE65 Gene

Sources for RPE65 Gene