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
187749122008Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.412
219116502012Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.238
158379192005Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.106
203998832010Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.86
178485102007Human cone photoreceptor dependence on RPE65 isomerase.73
216547322011A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.63
177242182007Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.60
177242182007Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.60
191179222009Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.45
185399302008Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.44

Citation

Dessen P

RPE65 (retinoid isomerohydrolase RPE65)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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