Gene Page: RPE65
Summary ?
| GeneID | 6121 |
| Symbol | RPE65 |
| Synonyms | BCO3|LCA2|RP20|mRPE65|rd12|sRPE65 |
| Description | retinal pigment epithelium-specific protein 65kDa |
| Reference | MIM:180069|HGNC:HGNC:10294|Ensembl:ENSG00000116745|HPRD:01569|Vega:OTTHUMG00000009208 |
| Gene type | protein-coding |
| Map location | 1p31 |
| Pascal p-value | 0.032 |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.02692 |
Section I. Genetics and epigenetics annotation
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005515 | protein binding | TAS | 9326941 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0007468 | regulation of rhodopsin gene expression | IEA | - | |
| GO:0007601 | visual perception | TAS | 9326941 | |
| GO:0042574 | retinal metabolic process | IEA | - | |
| GO:0050896 | response to stimulus | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005737 | cytoplasm | IEA | - | |
| GO:0005886 | plasma membrane | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG RETINOL METABOLISM | 64 | 37 | All SZGR 2.0 genes in this pathway |
| PID CONE PATHWAY | 23 | 8 | All SZGR 2.0 genes in this pathway |
| PID RHODOPSIN PATHWAY | 24 | 10 | All SZGR 2.0 genes in this pathway |
| PEPPER CHRONIC LYMPHOCYTIC LEUKEMIA UP | 33 | 28 | All SZGR 2.0 genes in this pathway |
| ZHOU INFLAMMATORY RESPONSE LPS UP | 431 | 237 | All SZGR 2.0 genes in this pathway |
| ACEVEDO LIVER CANCER WITH H3K9ME3 UP | 141 | 75 | All SZGR 2.0 genes in this pathway |
| CHEN METABOLIC SYNDROM NETWORK | 1210 | 725 | All SZGR 2.0 genes in this pathway |