Version 5.4
| Homo sapiens Gene: PRPH2 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-87312.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | PRPH2 | ||||||||
| Gene Name | peripherin 2 (retinal degeneration, slow) | ||||||||
| Synonyms | AOFMD; AVMD; CACD2; DS; PRPH; rd2; RDS; RP7; TSPAN22 | ||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000112619 | ||||||||
| Encoded Proteins |
peripherin 2 (retinal degeneration, slow)
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| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 6:42696600-42722574 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | p21.1 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Hs.710129 | ||||||||
| RefSeq | NM_000322 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | CCDS4871 | ||||||||
| HPRD | 01553 | ||||||||
| IMGT | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||