RPE65
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 1[14]
- Cytogenetic location
- 1p31.3[18]
- Expressed in
- retinal pigment epithelium, testicle, optic nerve, Epithelium of choroid plexus, hypothalamus, substantia nigra, lower lobe of lung, C1 segment, seminal vesicula, ventricular zone[19][20][21][22][23][24][25][26][27][28]
- Found in taxon
- Homo sapiens[13]
- Genetic association
- Leber congenital amaurosis 2, fundus dystrophy[15][16]
- HomoloGene ID
- 20108[3]
- Strand orientation
- reverse strand[17]
🏷️ Also known as
en BCO3
en LCA2
en mRPE65
en p63
en rd12
en retinal pigment epithelium specific protein 65
en retinal pigment epithelium-specific protein 65kDa
en retinoid isomerohydrolase RPE65
en RP20
en RPE65
en RPE65, retinoid isomerohydrolase
en sRPE65
🔖 Identifiers · 12
- OpenAlex ID
- C2780724529
- Ensembl gene ID
- ENSG00000116745
- Ensembl transcript ID
- ENST00000262340
- Entrez Gene ID
- 6121
- Exact match
- identifiers.org
- Freebase ID
- /m/03gx0bf
- HGNC ID
- 10294
- HGNC gene symbol
- RPE65
- Microsoft Academic ID (discontinued)
- 2780724529
- OMIM ID
- 180069
- RefSeq RNA ID
- NM_000329
- UMLS CUI
- C1419622
🔗 Connections
Expressed in 6
Chromosome 1
Found in taxon 1
Instance of 1
Press Enter · cited answer in seconds