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Symbol report for RPE65

Stable symbol

HGNC data for RPE65

Approved symbol
RPE65
Approved name

retinoid isomerohydrolase RPE65

Locus type
gene with protein product
HGNC ID
HGNC:10294
Symbol status
Approved
Previous symbols
RP20
Previous names
retinal pigment epithelium-specific protein 65kDa
Alias symbols
LCA2
rd12
BCO3
Alias names
BCO family, member 3
retinol isomerase
all-trans-retinyl-palmitate hydrolase
Chromosomal location
1p31.3
Gene resources for RPE65
Ensembl
ENSG00000116745 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
6121 Curated
UCSC
uc001dei.2
Alliance of Genome Resources
HGNC:10294
Nucleotide resources for RPE65
MANE Select
NM_000329.3
ENST00000262340.6
INSDC
U18991 Curated
ENAGenBankDDBJ
RefSeq
NM_000329 Curated
NCBI sequence viewer
CCDS
CCDS643 Curated
Protein resources for RPE65
UniProt/Swiss-Prot
Q16518
InterProPDBeReactome
AlphaFold
AF-Q16518-F1
Enzyme Commission
3.1.1.64 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for RPE65
Bos taurus
RPE65 VGNC:34101 VGNC
Canis familiaris
RPE65 VGNC:45708 VGNC
Equus caballus
RPE65 VGNC:50875 VGNC
Felis catus
RPE65 VGNC:64731 VGNC
Macaca mulatta
RPE65 VGNC:76721 VGNC
Mus musculus
Rpe65 MGI:98001 Curated
Pan troglodytes
RPE65 VGNC:12954 VGNC
Rattus norvegicus
Rpe65 RGD:621396
Sus scrofa
RPE65 VGNC:92420 VGNC
Clinical resources for RPE65
OMIM
180069
LSDB
Mutations of the RPE65 Gene Curated
GenCC
HGNC:10294
MedlinePlus
Search via RPE65
DECIPHER
Search via RPE65
ClinGen
Search via HGNC:10294
Genetic Testing Registry
Search via NCBI Gene ID 6121
ClinVar
Search via NCBI Gene ID 6121
dbVar
Search via NCBI Gene ID 6121
Orphanet
118376
Other resources for RPE65
AmiGO
Search via Q16518
QuickGO
Search via Q16518
BioGPS
Search via NCBI Gene ID 6121
GeneCards
Search via HGNC:10294
Monarch
Search via HGNC:10294
WikiGenes
Search via NCBI Gene ID 6121
References for RPE65