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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RPE65 Gene

protein-coding GIFtS: 64
GCID: GC01M068894

retinal pigment epithelium-specific protein 65kDa

(Previous name: retinal pigment epithelium-specific protein (65kD) )
(Previous symbol: RP20)

Explore 31 diseases affiliated with
RPE65 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Retinal Pigment Epithelium-Specific Protein 65kDa¹ ²		MRPE65¹
LCA2¹ ² ⁵		P63¹
RP20¹ ² ⁵		RBP-Binding Membrane Protein²
Rd12¹		Retinitis Pigmentosa 20 (Autosomal Recessive)²
All-Trans-Retinyl-Palmitate Hydrolase² ³		Retinoid Isomerohydrolase²
Retinal Pigment Epithelium-Specific 65 KDa Protein² ³		SRPE65¹
Retinol Isomerase² ³		EC 3.1.1.64³
Retinal Pigment Epithelium-Specific Protein (65kD)¹

External Ids:	HGNC: 10294¹	Entrez Gene: 6121²	Ensembl: ENSG00000116745⁷	OMIM: 180069⁵	UniProtKB: Q16518³

Export aliases for RPE65 gene to outside databases

Previous GC identifers: GC01M069028 GC01M067812 GC01M068252 GC01M068264 GC01M068606 GC01M068667 GC01M067004

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RPE65:

This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of

11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65,

and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol

acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore

regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of

these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been

associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518

Function: Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. 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. The enzymatic activity is linearly dependent of the expression levels

and membrane association

Gene Wiki entry for RPE65

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RPE65 gene promoter:
Nkx3-1 Nkx3-1 v4 Nkx3-1 v1 NF-E2 p45 NF-AT Nkx3-1 v2 NF-AT2 Nkx3-1 v3 NF-E2 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RPE65 promoter sequence

Search SABiosciences Chromatin IP Primers for RPE65

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPE65

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31 Ensembl cytogenetic band: 1p31.2 HGNC cytogenetic band: 1p31

RPE65 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPE65 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M068894: view genomic region (about GC identifiers)

Start:	68,894,505 bp from pter	End:	68,915,642 bp from pter
Size:	21,138 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518 (See protein sequence)

Recommended Name: Retinoid isomerohydrolase

Size: 533 amino acids; 60948 Da

Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)

Subunit: Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65

Subcellular location: Cytoplasm (By similarity). Cell membrane; Lipid-anchor (By similarity). Microsome membrane (By

similarity). Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when

unpalmitoylated (By similarity). Undergoes light-dependent intracellular transport to become more concentrated in the

central region of the retina pigment epithelium cells

Secondary accessions: Q5T9U3

Explore the universe of human proteins at neXtProt for RPE65: NX_Q16518

Post-translational modifications:

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)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16518

RPE65 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000320.1

ENSEMBL proteins:

ENSP00000262340

Reactome Protein details: Q16518
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RPE65

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005792	microsome	--	--
GO:0005886	plasma membrane	IEA	--
GO:0031090	organelle membrane	IEA	--

RPE65 for ontologies About GeneDecksing

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	Uscn Antibodies for RPE65
	ThermoFisher Antibodies for RPE65

Assay Products for RPE65:

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	GenScript Custom Assay Services for RPE65
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RPE65

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RPE65 for domains About GeneDecksing

1 InterPro domain/family:

IPR004294 Carotenoid_Oase

Graphical View of Domain Structure for InterPro Entry Q16518

ProtoNet protein and cluster: Q16518

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518

Similarity: Belongs to the carotenoid oxygenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518

Function: Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. 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. The enzymatic activity is linearly dependent of the expression levels

and membrane association

Catalytic activity: An all-trans-retinyl ester + H(2)O = 11-cis-retinol + a fatty acid

Genatlas biochemistry entry for RPE65:

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 Number (IUBMB): EC 3.1.1.64¹

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPE65
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate RPE65:
		hsa-miR-3607-3p hsa-miR-374b hsa-miR-2276 hsa-miR-545 hsa-miR-374a hsa-miR-548aa
		SwitchGear 3'UTR luciferase reporter plasmid: RPE65 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE65

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004744	retinal isomerase activity	IEA	--
GO:0016853	isomerase activity	--	--
GO:0046872	metal ion binding	IEA	--
GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IEA	--
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA	--

RPE65 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Rpe65^tm1Tmr for RPE65
     6 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Rpe65):

behavior/neurological	homeostasis/metabolism	nervous system	other	pigmentation
vision/eye

RPE65 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

the visual cycle I (vertebrates)

the visual cycle I (vertebrates)

1.00

The canonical retinoid cycle in rods (twilight vision)

0.50

Visual signal transduction- Rods

Visual signal transduction- Rods

1.00

Visual signal transduction- Cones

0.39

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for RPE65

Retinol metabolism

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RPE65

Visual Cycle in Retinal Rods

1 GeneGo (Thomson Reuters) Pathway for RPE65

Retinol metabolism

4 BioSystems Pathways for RPE65

	Vitamin A and carotenoid metabolism
	Visual signal transduction- Rods
	Visual signal transduction- Cones
	the visual cycle I (vertebrates)

5 Reactome Pathways for RPE65

	Diseases associated with visual transduction
	Signal Transduction
	The canonical retinoid cycle in rods (twilight vision)
	Visual phototransduction
	Disease

1 Kegg Pathway (Kegg details for RPE65):

Retinol metabolism

RPE65 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RPE65

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/9 Interacting proteins for RPE65 (Q16518³ ENSP00000262340⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC27A1	Q6PCB7³, ENSP00000252595⁴	I2D: score=1 STRING: ENSP00000252595
RBP4	P02753³, ENSP00000360519⁴	I2D: score=1 STRING: ENSP00000360519
DGAT1	ENSP00000332258⁴	STRING: ENSP00000332258
LRAT	ENSP00000337224⁴	STRING: ENSP00000337224
RDH10	ENSP00000240285⁴	STRING: ENSP00000240285

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006776	vitamin A metabolic process	TAS	9326941
GO:0007468	regulation of rhodopsin gene expression	IEA	--
GO:0007601	visual perception	IEA	--
GO:0008286	insulin receptor signaling pathway	IEA	--
GO:0042574	retinal metabolic process	IEA	--

RPE65 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RPE65 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RPE65

1 HMDB Compound for RPE65 About this table

Compound	Synonyms	CAS #	PubMed Ids
Retinyl ester	all-trans-Retinyl ester	--	--

9 Novoseek chemical compound relationships for RPE65 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11-cis-retinol	86.4	6	9862453 (2), 19892706 (1), 16519528 (1), 19049981 (1)
retinoid	77.6	34	18722466 (3), 18809924 (2), 10386590 (2), 14611939 (1) (see all 20)
retinyl ester	75.9	8	16116091 (1), 17123547 (1), 18216020 (1), 14529294 (1) (see all 6)
vitamin a	70.1	45	15009723 (5), 9862453 (2), 15288992 (2), 16116091 (2) (see all 21)
retinoic acid	25.6	8	12910240 (4), 14611939 (1)
hematoxylin	1.89	1	17069678 (1)
vegf	1.41	3	16971894 (1), 16598467 (1), 11818403 (1)
lipid	0	1	19892706 (1)
alanine	0	6	16198348 (1), 17122102 (1), 19049981 (1)

Search CenterWatch for drugs/clinical trials and news about RPE65

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RPE65 gene:

NM_000329.2

Unigene Cluster for RPE65:

Retinal pigment epithelium-specific protein 65kDa

Hs.2133 [show with all ESTs]

Unigene Representative Sequence: U18991

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000262340(uc001dei.1)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPE65
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate RPE65:
		hsa-miR-3607-3p hsa-miR-374b hsa-miR-2276 hsa-miR-545 hsa-miR-374a hsa-miR-548aa
		SwitchGear 3'UTR luciferase reporter plasmid: RPE65 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: RPE65 (NM_000329)
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Additional cDNA sequence:

AK289925.1 BC075035.2 BC075036.2 U18991.1

1 DOTS entry:

DT.205701

20 AceView cDNA sequences:

BX279594 BM711385 BM929818 BM728042 BC075036 BC075035 CA393174 CA397132

U18991 BM716590 BX954093 BP360146 NM_000329 BF337111 BE762826 BU738143

BQ186418 BM718135 BE936336 AW293397

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for RPE65 About this scheme

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

ECgene alternative splicing isoforms for RPE65

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RPE65 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATAAGGCT

About this image

RPE65 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

Anterior neural specified EBs (Differentiation of h...)

Pigmented epithelium cell clusters (Direct differentiati...)

Pigmented epithelium cell monolayers (Direct differentiati...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal pigment epithelium-like cells (Generation of photor...)

Photoreceptor-like cells (Differentiation of h...)

See RPE65 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPE65

SOURCE GeneReport for Unigene cluster: Hs.2133

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518

Tissue specificity: Retinal pigment epithelium specific

SABiosciences Custom PCR Arrays for RPE65

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPE65

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE65

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPE65 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RPE65¹	retinal pigment epithelium-specific protein 65kDa	79.24(n) 90.06(a)		395700 NM_204884.1 NP_990215.1
lizard (Anolis carolinensis)	Reptilia	RPE65⁶	--	86(a)	1 ↔ 1	GL343328.1(439122-449861)
African clawed frog (Xenopus laevis)	Amphibia	rpe65-prov²	retinal pigment epithelium-specific protein 65kDa	77.79(n)		BC043751.1
zebrafish (Danio rerio)	Actinopterygii	zgc73213²	retinal pigment epithelium abundant protein RPE65	75.79(n)		393724 BC059559.1
fruit fly (Drosophila melanogaster)	Insecta	RPE65³ ninaB¹	beta-carotene 15,15'-dioxygenase³ neither inactivation nor afterpotential B¹	38(a)³ 46.63(n)¹ 40.08(a)¹		87F11³ 41678¹ NM_142050.2¹ NP_650307.2¹
worm (Caenorhabditis elegans)	Secernentea	F53C3.12³	--	33(a) (best of 2)		II(3908542-3910958) --
thale cress (Arabidopsis thaliana)	eudicotyledons	CCD8⁶ CCD1⁶ (see all 8)	carotenoid cleavage dioxygenase 1 (see all 8)	25(a) 16(a) (see all 8)	1 ↔ many possible ortholog (see all 8)	4(15828228-15831485) 3(23452911-23456078)
rice (Oryza sativa)	Liliopsida	Os01g0566500¹	hypothetical protein	40.46(n) 33.18(a)		4327933 NM_001049898.1 NP_001043363.1

ENSEMBL Gene Tree for RPE65 (if available)
TreeFam Gene Tree for RPE65 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RPE65 gene

BCO2² BCMO1²

3 SIMAP similar genes for RPE65 using alignment to 5 protein entries: RPE65_HUMAN (see all proteins):

BCMO1 BCDO2 BCO2

RPE65 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61752871^1,2	C	pathogenic	96569091(-)	`ACGTAC/TGGGCA`	2	R W	mis¹		0	--	--	--	--
rs61752878^1,2	C,F	pathogenic	96569317(-)	`ACAATG/ACCCTT`	2	/T /A	mis¹		2		NA EU	5773
rs61752895^1,2	C	pathogenic	96574363(-)	`GTGACC/TGATTC`	2	R *	stg¹		0	--	--	--	--
rs61752909^1,2	C	pathogenic	96575656(-)	`TTACTC/TATATT`	2	S L	mis¹		0	--	--	--	--
rs62637004^1,2	C	pathogenic	96582793(-)	`GAATGG/TCAAAA`	2	G V	mis¹		0	--	--	--	--
rs121917745^1,2	C	pathogenic	96584118(-)	`TTGCCC/TGGGCT`	2	R W	mis¹		0	--	--	--	--
rs79134554^1,2	F,	--	67003940(+)	`CTATCT/CAGTAA`	1	--	ds500¹		1		WA	118
rs3118417^1,2	C,H	--	67004443(+)	`TTAAAT/CACAAT`	1	--	ut3¹		6		NS EA NA	396
rs10626313^1,2	C	--	67004539(+)	`ATGCT-/CTGTTTT`	1	--	ut3¹		0	--	--	--	--
rs56113622^1,2	C,	--	67004585(+)	`TGTTAC/TATAAG`	1	--	ut3¹		2		WA	120

HapMap Linkage Disequilibrium report for RPE65 (68894505 - 68915642 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RPE65: --
Human Gene Mutation Database (HGMD): RPE65

Locus Specific Mutation Databases (LSDB): RPE65

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPE65

DNA2.0 Custom Variant and Variant Library Synthesis for RPE65

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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RPE65 for disorders           About GeneDecksing

OMIM gene information: 180069
OMIM disorders: 204100
UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518

Defects in RPE65 are the cause of Leber congenital amaurosis type 2 (LCA2) [MIM:204100]. LCA designates a

clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal

recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.

LCA represents the most common genetic cause of congenital visual impairment in infants and children

Defects in RPE65 are the cause of retinitis pigmentosa type 20 (RP20) [MIM:613794]. RP leads to degeneration

of retinal photoreceptor cells. 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

Note=Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement

(PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night

blindness and chorioretinal atrophy

20/31 diseases for RPE65 (see all 31): About MalaCards

retinitis pigmentosa leber congenital amaurosis retinitis retinitis pigmentosa 20

cone-rod dystrophy congenital stationary night blindness night blindness leber congenital amaurosis 2

retinol binding protein age related macular degeneration fundus albipunctatus macular degeneration

pigmentary retinopathy thymic hyperplasia fundus dystrophy cone dystrophy

blindness retinal degeneration diabetic retinopathy coloboma

4 diseases from the University of Copenhagen DISEASES database for RPE65:

Leber congenital amaurosis Fundus dystrophy Retinal degeneration Blindness

10/14 Novoseek disease relationships for RPE65 gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lebers congenital amaurosis	98	53	17032058 (3), 14962443 (2), 16828753 (2), 18539930 (2) (see all 42)
retinal degeneration	82.4	16	11095629 (3), 11727200 (1), 16374319 (1), 9501877 (1) (see all 14)
retinitis pigmentosa	82.1	21	11139690 (2), 10937591 (2), 16272259 (2), 10527670 (1) (see all 18)
retinopathy	70.6	6	18837956 (3), 19373675 (1), 9326941 (1), 16030131 (1)
blindness	69.5	17	17594175 (2), 14611946 (2), 18809924 (1), 19373675 (1) (see all 12)
night blindness, congenital stationary	67	3	9808841 (2), 10937591 (1)
cone-rod dystrophy	66.8	2	10527670 (1), 18722466 (1)
visual impairment	60.8	3	19339306 (1), 10937591 (1), 15765048 (1)
night blindness	52.5	1	17011878 (1)
visual loss	35.9	3	14962443 (1), 11035546 (1), 20079931 (1)

GeneTests: RPE65

Leber Congenital Amaurosis

Human Genome Epidemiology (HuGE) Navigator: RPE65 (5 documents)

Export disorders for RPE65 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RPE65 gene, integrated from 9 sources (see all 195):
(articles sorted by number of sources associating them with RPE65)

Utopia: connect your pdf to the dynamic
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Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. (PubMed id 19049981)^{1, 2, 9} Takahashi Y.... Ma J.X. (2009)
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)^{1, 2, 9} Simonelli F....Banfi S. (2007)
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. (PubMed id 9326941)^{1, 2, 9} Gu S.M.... Gal A. (1997)
Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium. (PubMed id 16198348)^{1, 2, 9} Takahashi Y.... Ma J.X. (2005)
Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations. (PubMed id 14962443)^{1, 2, 9} Al-Khayer K....Traboulsi E.I. (2004)
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (PubMed id 10766140)^{1, 2, 9} Lotery A.J....Stone E.M. (2000)
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PubMed id 11462243)^{1, 2, 9} Simovich M.J.... Pittler S.J. (2001)
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. (PubMed id 9801879)^{1, 2, 9} Marlhens F....Hamel C.P. (1998)
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. (PubMed id 9501220)^{1, 2, 9} Morimura H....Dryja T.P. (1998)
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. (PubMed id 15557452)^{1, 2, 9} Kondo H.... Hayashi K. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6121	HGNC: 10294	AceView: RPE65	Ensembl:ENSG00000116745	euGenes: HUgn6121
ECgene: RPE65	Kegg: 6121	H-InvDB: RPE65

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RPE65	Pharmacogenomics, SNPs, Pathways
Mutations of the RPE65 gene	http://www.retina-international.org/files/sci-news/rpe65mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPE65

Intellectual Property for RPE65 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RPE65 gene:
Search GeneIP for patents involving RPE65

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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RPE65 Gene

retinal pigment epithelium-specific protein 65kDa

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RPE65 Gene

retinal pigment epithelium-specific protein 65kDa

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