RPE65 (retinoid isomerohydrolase RPE65)

2014-11-01  

Identity

HGNC
RPE65
LOCATION
1p31.3
LOCUSID
6121
ALIAS
BCO3,LCA2,RP20,mRPE65,p63,rd12,sRPE65
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6121
MIM: 180069
HGNC: 10294
Ensembl: ENSG00000116745

Variants:

dbSNP: 6121
ClinVar: 6121
TCGA: ENSG00000116745
COSMIC: RPE65

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116745ENST00000262340Q16518

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

References

Pubmed IDYearTitleCitations
385082142024RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.0
385082142024RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.0
369509212023Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.1
375477222023Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.0
369509212023Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.1
375477222023Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.0
338383132022Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.38
350984842022Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.13
351295892022RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.8
357265672022Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.5
360173772022Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.1
364290682022The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.3
338383132022Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.38
350984842022Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.13
351295892022RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.8

Citation

Dessen P

RPE65 (retinoid isomerohydrolase RPE65)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72778/rpe65