Detailed information for PRPH2
Basic information
| Official symbol | PRPH2 |
|---|---|
| Official full name | peripherin 2 (retinal degeneration, slow) |
| Location | 6p21.2-p12.3 |
| Gene type | protein-coding |
| Synonyms | AOFMD|AVMD|CACD2|DS|PRPH|RDS|RP7|TSPAN22|rd2 |
| Quick links | Entrez ID:5961; HGNC:9942; MIM:179605; Ensembl:ENSG00000112619; HPRD:01553; Vega:OTTHUMG00000014701 |
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:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| 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:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
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 |
|---|---|---|---|---|---|---|---|
| chr6 | 42663332 | 42691358 | 613105 | "Choriodal dystrophy, central areolar 2" | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 608161 | "Foveomacular dystrophy, adult-onset, with choroidal neovascularization" | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | - | Macular dystrophy | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 169150 | "Macular dystrophy, patterned" | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 608161 | "Macular dystrophy, vitelliform" | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 608133 | Retinitis pigmentosa 7 | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 608133 | "Retinitis pigmentosa, digenic" | 3 | 179605 | 6p21.1 |
| chr6 | 42663332 | 42691358 | 136880 | Retinitis punctata albescens | 3 | 179605 | 6p21.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0001186 | pigmentation phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0003631 | nervous system phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0005384 | cellular phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0005385 | cardiovascular system phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0005387 | immune system phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0005391 | vision/eye phenotype |
| chr6 | 42663332 | 42691358 | 5961 | Prph2 | MGI:102791 | MP:0005397 | hematopoietic system phenotype |
Mutation spectrum
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Gene-disease network
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