Detailed information for RPE65
Basic information
| Official symbol | RPE65 |
|---|---|
| Official full name | retinal pigment epithelium-specific protein 65kDa |
| Location | 1p31 |
| Gene type | protein-coding |
| Synonyms | LCA2|RP20|mRPE65|rd12|sRPE65 |
| Quick links | Entrez ID:6121; HGNC:10294; MIM:180069; Ensembl:ENSG00000116745; HPRD:01569; Vega:OTTHUMG00000009208 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0050953 | sensory perception of light stimulus | 205 | 100 | 2.55 | 39.21 | 8.72e-146 | 1.02e-142 |
| GO:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| GO:0007600 | sensory perception | 495 | 103 | 6.16 | 16.73 | 4.54e-105 | 1.78e-102 |
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Visual signal transduction: Rods | Pathway commons | 24 | 17 | 0.11 | 157.47 | 2.08e-35 | 2.14e-33 |
| Visual signal transduction: Cones | Pathway commons | 23 | 15 | 0.10 | 144.98 | 1.71e-30 | 8.81e-29 |
| Retinol metabolism | KEGG | 64 | 4 | 0.29 | 13.89 | 0.0002 | 0.0010 |
| Vitamin A and carotenoid metabolism | WIKI | 49 | 6 | 0.22 | 27.22 | 9.13e-08 | 1.00e-06 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr1 | 68893506 | 68916642 | 204100 | Leber congenital amaurosis 2 | 3 | 180069 | 1p31.3-p31.2 |
| chr1 | 68893506 | 68916642 | 613794 | Retinitis pigmentosa 20 | 3 | 180069 | 1p31.3-p31.2 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0001186 | pigmentation phenotype |
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0003631 | nervous system phenotype |
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0005386 | behavior/neurological phenotype |
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0005391 | vision/eye phenotype |
| chr1 | 68893506 | 68916642 | 6121 | Rpe65 | MGI:98001 | MP:0005395 | other phenotype |
Mutation spectrum
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Gene-disease network
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