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| # | Reference Title | Reference Citation |
| 1. | Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. | Ali RR, etal., Nat Genet. 2000 Jul;25(3):306-10. |
| 2. | Nucleotide and predicted protein sequence of rat retinal degeneration slow (rds). | Begy C and Bridges CD, Nucleic Acids Res 1990 May 25;18(10):3058. |
| 3. | Peripherin/RDS gene in Indonesian patients with retinitis pigmentosa: geographic comparison of polymorphic variations. | Budu, etal., Hiroshima J Med Sci. 2005 Sep;54(3):73-6. |
| 4. | Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. | Chakraborty D, etal., PLoS One. 2013 May 1;8(5):e63321. doi: 10.1371/journal.pone.0063321. Print 2013. |
| 5. | Genes and mutations causing retinitis pigmentosa. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 6. | Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. | Ekstrom U, etal., Ophthalmic Genet. 1998 Mar;19(1):27-37. |
| 7. | Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. | Fakin A, etal., Vision Res. 2012 Dec 15;75:71-6. doi: 10.1016/j.visres.2012.07.011. Epub 2012 Jul 25. |
| 8. | Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. | Felbor U, etal., Hum Mutat. 1997;10(4):301-9. |
| 9. | Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. | Fishman GA, etal., Ophthalmology. 1997 Feb;104(2):299-306. |
| 10. | Analysis of peripherin/RDS gene for Japanese retinal dystrophies. | Fujiki K, etal., Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92. |
| 11. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 12. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 13. | A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. | Gorin MB, etal., Ophthalmology. 1995 Feb;102(2):246-55. |
| 14. | Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. | Hoyng CB, etal., Am J Ophthalmol. 1996 Jun;121(6):623-9. |
| 15. | A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. | Kajiwara K, etal., Nat Genet. 1993 Mar;3(3):208-12. |
| 16. | Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. | Kajiwara K, etal., Nature. 1991 Dec 12;354(6353):480-3. |
| 17. | Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. | Kedzierski W, etal., Invest Ophthalmol Vis Sci. 1997 Feb;38(2):498-509. |
| 18. | Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. | Keilhauer CN, etal., Arch Ophthalmol. 2006 Jul;124(7):1020-7. |
| 19. | Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene. | Khoubian FJ, etal., Retina. 2005 Dec;25(8):999-1004. |
| 20. | High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. | Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7 |
| 21. | Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. | McNally N, etal., Hum Mol Genet. 2002 May 1;11(9):1005-16. |
| 22. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 23. | Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene. | Nakazawa M, etal., Arch Ophthalmol. 1994 Dec;112(12):1567-73. |
| 24. | Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. | Nakazawa M, etal., Retina. 1996;16(5):405-10. |
| 25. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 26. | Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. | Nichols BE, etal., Nat Genet. 1993 Mar;3(3):202-7. |
| 27. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 28. | A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy. | Pajic B, etal., Retina. 2006 Oct;26(8):947-53. |
| 29. | Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. | Passerini I, etal., Eur J Ophthalmol. 2007 Nov-Dec;17(6):1000-3. |
| 30. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 31. | ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. | Poloschek CM, etal., Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24. |
| 32. | GOA pipeline | RGD automated data pipeline |
| 33. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 34. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 35. | A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. | Saga M, etal., Hum Genet. 1993 Nov;92(5):519-21. |
| 36. | Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. | Sarra GM, etal., Hum Mol Genet 2001 Oct 1;10(21):2353-61. |
| 37. | Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). | Travis GH, etal., Nature. 1989 Mar 2;338(6210):70-3. |
| 38. | A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. | van Lith-Verhoeven JJ, etal., Arch Ophthalmol. 2003 Oct;121(10):1452-7. |
| 39. | Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. | Wang X, etal., J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11. |
| 40. | Demonstration of peripherin/rds mRNA in normal and light-damaged rat retinas by in situ hybridization histochemistry. | Yanagita T, etal., Jpn J Ophthalmol. 1993;37(1):1-8. |
| 41. | [The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa]. | Yang H, etal., Zhonghua Yan Ke Za Zhi. 2000 Jan;36(1):52-5, 6, 7. |
| 42. | A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. | Yang Z, etal., Am J Ophthalmol. 2003 Feb;135(2):213-8. |
| 43. | A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. | Yang Z, etal., Ophthalmic Genet. 2004 Jun;25(2):133-45. |
| Prph2 (Rattus norvegicus - Norway rat) |
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| PRPH2 (Homo sapiens - human) |
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| Prph2 (Mus musculus - house mouse) |
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| Prph2 (Chinchilla lanigera - long-tailed chinchilla) |
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| PRPH2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PRPH2 (Canis lupus familiaris - dog) |
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| Prph2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PRPH2 (Sus scrofa - pig) |
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| PRPH2 (Chlorocebus sabaeus - green monkey) |
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| Prph2 (Heterocephalus glaber - naked mole-rat) |
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| Prph2 (Rattus rattus - black rat) |
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Variants in Prph2
149 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH94646 |
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| RH136756 |
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alimentary part of gastrointestinal system
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ectoderm
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mesenchyme
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nervous system
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renal system
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reproductive system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|
| 1 | 17 | 3 | 17 | 2 | 3 | 15 | 15 |
| RefSeq Transcripts | NM_013021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | CH473987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X52376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000108165 ⟹ ENSRNOP00000095739 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_013021 ⟹ NP_037153 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_037153 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | CAA36603 | (Get FASTA) | NCBI Sequence Viewer |
| EDM18867 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000095739 | ||
| ENSRNOP00000095739.1 | |||
| GenBank Protein | P17438 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_037153 ⟸ NM_013021 |
| - UniProtKB: | P17438 (UniProtKB/Swiss-Prot), A6JIL5 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000095739 ⟸ ENSRNOT00000108165 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P17438-F1-model_v2 | AlphaFold | P17438 | 1-346 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:3549 | AgrOrtholog |
| BioCyc Gene | G2FUF-28251 | BioCyc |
| Ensembl Genes | ENSRNOG00000068377 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000108165 | ENTREZGENE |
| ENSRNOT00000108165.1 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.10.1450.10 | UniProtKB/Swiss-Prot |
| InterPro | Peripherin/rom-1 | UniProtKB/Swiss-Prot |
| Peripherin/rom-1_CS | UniProtKB/Swiss-Prot | |
| Peripherin_LEL | UniProtKB/Swiss-Prot | |
| Tetraspanin/Peripherin | UniProtKB/Swiss-Prot | |
| Tetraspanin_EC2_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:25534 | UniProtKB/Swiss-Prot |
| NCBI Gene | 25534 | ENTREZGENE |
| PANTHER | PERIPHERIN-2 | UniProtKB/Swiss-Prot |
| PTHR19282 | UniProtKB/Swiss-Prot | |
| Pfam | Tetraspanin | UniProtKB/Swiss-Prot |
| PhenoGen | Prph2 | PhenoGen |
| PRINTS | PERIPHERNRDS | UniProtKB/Swiss-Prot |
| PROSITE | RDS_ROM1 | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000068377 | RatGTEx |
| Superfamily-SCOP | SSF48652 | UniProtKB/Swiss-Prot |
| UniProt | A6JIL5 | ENTREZGENE, UniProtKB/TrEMBL |
| P17438 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-02-15 | Prph2 | peripherin 2 | Rds | retinal degeneration, slow | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Rds | retinal degeneration, slow | Prph2 | peripherin 2 | Symbol and Name updated | 1299863 | APPROVED |
| 2003-04-09 | Prph2 | peripherin 2 | Rds | Peripherin (retinal degradation slow) | Symbol and Name updated | 629477 | APPROVED |
| 2002-06-10 | Rds | Peripherin (retinal degradation slow) | Symbol and Name status set to approved | 70586 | APPROVED |