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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
peripherin 2
Summary
- Gene Symbol
-
- PRPH2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cell adhesion
- Cell projection
- Cone-rod dystrophy
- Disease variant
- Disulfide bond
- Glycoprotein
- Reference proteome
- Retinitis pigmentosa
- Transmembrane helix
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| P23942 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| retina development in camera-type eye | ||
| protein maturation | ||
| response to low light intensity stimulus | ||
| visual perception | ||
| cell adhesion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| plasma membrane | ||
| photoreceptor outer segment | ||
| photoreceptor inner segment |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| protein homodimerization activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- uncharacterized protein
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| visual perception |
| InterPro |
|---|
| Peripherin, extracellular domain |
| Peripherin/rom-1, conserved site |
| Peripherin/rom-1 |
| Tetraspanin, EC2 domain superfamily |
| Tetraspanin/Peripherin |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050661 | vitelliform macular dystrophy | |
| DOID:0060863 | patterned macular dystrophy | |
| DOID:0060866 | patterned macular dystrophy 1 | |
| DOID:0110383 | retinitis pigmentosa 7 | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:11105 | fundus albipunctatus | |
| DOID:14791 | Leber congenital amaurosis | |
| DOID:4448 | macular degeneration | |
| DOID:5679 | retinal disease | |
| DOID:8466 | retinal degeneration |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 19133 | MGI:102791 | MOUSE22565 | ||
| 25534 | RGD:3549 | RATNO43385 | ||
| 34590 | FB:FBgn0032376 | |||
| 35617 | FB:FBgn0033129 | |||
| 37786 | FB:FBgn0020372 | |||
| 58085 | ZFIN:ZDB-GENE-000616-8 | DANRE03868 | ||
| 280907 | BOVIN18504 | |||
| 379506 | Xenbase:XB-GENE-985595 | |||
| 398002 | Xenbase:XB-GENE-17339014 | |||
| 403972 | CANLF02752 |
