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Gene Review

PRPH2  -  peripherin 2 (retinal degeneration, slow)

Homo sapiens

Synonyms: AOFMD, AVMD, CACD2, DS, MDBS1, ...
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Disease relevance of PRPH2


Psychiatry related information on PRPH2

  • Static RDS (random dot stereograms) stimuli were used to find the spatial grain in which human stereoscopic vision operates [6].
  • The effect of interruption of positive and expiratory pressure (PEEP) on cerebral blood flow velocity (CBFV) and CBF fluctuation (CBFF) in the internal carotid arteries and on heart rate, restlessness and wakefulness has been studied in 17 mechanically ventilated neonates with RDS [7].
  • The reaction times from the RDS presentation to pushing the key when the form was identified were analysed [8].
  • Nursing decisions. Experiences in clinical problem solving. Series 2. Number 4. Tommy S., a high risk baby with RDS (RESPIRATORY DISTRESS SYNDROME) [9].

High impact information on PRPH2


Chemical compound and disease context of PRPH2


Biological context of PRPH2


Anatomical context of PRPH2


Associations of PRPH2 with chemical compounds

  • RESULTS: A proline to arginine mutation in codon 210 of peripherin/RDS was found in all clinically affected individuals [23].
  • A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene [24].
  • RESULTS: Eight affected family members and no unaffected family members demonstrated a single guanine base deletion at nucleotide 112 that led to premature termination at amino acid 38 of RDS/Peripherin polypeptide [25].
  • We have now identified a three-base-pair deletion which results in the loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin [26].
  • A base substitution was identified in the RDS-peripherin gene of one patient and DNA sequencing revealed a C-to-T transition in codon 172, arginine being substituted by tryptophan [21].

Enzymatic interactions of PRPH2

  • Three exons of the peripherin/RDS gene cut into 150-200 base-pair fragments were amplified by polymerase chain reaction and screened by single-strand conformation polymorphism [27].

Other interactions of PRPH2


Analytical, diagnostic and therapeutic context of PRPH2


  1. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. van Lith-Verhoeven, J.J., Cremers, F.P., van den Helm, B., Hoyng, C.B., Deutman, A.F. Mol. Vis. (2003) [Pubmed]
  2. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Wells, J., Wroblewski, J., Keen, J., Inglehearn, C., Jubb, C., Eckstein, A., Jay, M., Arden, G., Bhattacharya, S., Fitzke, F. Nat. Genet. (1993) [Pubmed]
  3. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. Khani, S.C., Karoukis, A.J., Young, J.E., Ambasudhan, R., Burch, T., Stockton, R., Lewis, R.A., Sullivan, L.S., Daiger, S.P., Reichel, E., Ayyagari, R. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  4. A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Leung, C.L., He, C.Z., Kaufmann, P., Chin, S.S., Naini, A., Liem, R.K., Mitsumoto, H., Hays, A.P. Brain Pathol. (2004) [Pubmed]
  5. Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. Telmer, C.A., Retchless, A.C., Kinsey, A.D., Conley, Y., Rigatti, B., Gorin, M.B., Jarvik, J.W., Retchless, A.R. Genome Res. (2003) [Pubmed]
  6. Spatial size limits in stereoscopic vision. Schlesinger, B.Y., Yeshurun, Y. Spatial vision. (1998) [Pubmed]
  7. Influence of end expiratory pressure on cerebral blood flow in preterm infants. Mullaart, R.A., Hopman, J.C., Rotteveel, J.J., Daniëls, O., Stoelinga, G.B., De Haan, A.F., Kollée, L.A. Early Hum. Dev. (1995) [Pubmed]
  8. Interpolation of forms in random-dot stereograms with varying dot densities. Kobayashi, I. Perceptual and motor skills. (1993) [Pubmed]
  9. Nursing decisions. Experiences in clinical problem solving. Series 2. Number 4. Tommy S., a high risk baby with RDS (RESPIRATORY DISTRESS SYNDROME). de Tornyay, R., Rogers, E.M. RN. (1977) [Pubmed]
  10. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nichols, B.E., Sheffield, V.C., Vandenburgh, K., Drack, A.V., Kimura, A.E., Stone, E.M. Nat. Genet. (1993) [Pubmed]
  11. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Kajiwara, K., Sandberg, M.A., Berson, E.L., Dryja, T.P. Nat. Genet. (1993) [Pubmed]
  12. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Fishman, G.A., Stone, E.M., Alexander, K.R., Gilbert, L.D., Derlacki, D.J., Butler, N.S. Ophthalmology (1997) [Pubmed]
  13. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families. Downes, S.M., Fitzke, F.W., Holder, G.E., Payne, A.M., Bessant, D.A., Bhattacharya, S.S., Bird, A.C. Arch. Ophthalmol. (1999) [Pubmed]
  14. Effects of theophylline on renal insufficiency in neonates with respiratory distress syndrome. Huet, F., Semama, D., Grimaldi, M., Guignard, J.P., Gouyon, J.B. Intensive care medicine. (1995) [Pubmed]
  15. Respiratory tract colonization with mycoplasma species increases the severity of bronchopulmonary dysplasia. Bhandari, V., Hussain, N., Rosenkrantz, T., Kresch, M. Journal of perinatal medicine. (1998) [Pubmed]
  16. Role of myoinositol in regulation of surfactant phospholipids in the newborn. Hallman, M., Saugstad, O.D., Porreco, R.P., Epstein, B.L., Gluck, L. Early Hum. Dev. (1985) [Pubmed]
  17. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Travis, G.H., Christerson, L., Danielson, P.E., Klisak, I., Sparkes, R.S., Hahn, L.B., Dryja, T.P., Sutcliffe, J.G. Genomics (1991) [Pubmed]
  18. Autosomal dominant macular dystrophy in a large Canadian family. Donoso, L.A., Hageman, G., Frost, A., Sheffield, V., Beck, J., Hébert, M., MacDonald, I.M. Can. J. Ophthalmol. (2003) [Pubmed]
  19. The role of rds in outer segment morphogenesis and human retinal disease. Farjo, R., Naash, M.I. Ophthalmic Genet. (2006) [Pubmed]
  20. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Keen, T.J., Inglehearn, C.F. Hum. Mutat. (1996) [Pubmed]
  21. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Reig, C., Serra, A., Gean, E., Vidal, M., Arumí, J., De la Calzada, M.D., Antich, J., Carballo, M. Ophthalmic Genet. (1995) [Pubmed]
  22. The role of the peripherin/RDS gene in retinal dystrophies. Kohl, S., Giddings, I., Besch, D., Apfelstedt-Sylla, E., Zrenner, E., Wissinger, B. Acta anatomica. (1998) [Pubmed]
  23. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Gorin, M.B., Jackson, K.E., Ferrell, R.E., Sheffield, V.C., Jacobson, S.G., Gass, J.D., Mitchell, E., Stone, E.M. Ophthalmology (1995) [Pubmed]
  24. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. van Lith-Verhoeven, J.J., van den Helm, B., Deutman, A.F., Bergen, A.A., Cremers, F.P., Hoyng, C.B., de Jong, P.T. Arch. Ophthalmol. (2003) [Pubmed]
  25. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. Yang, Z., Lin, W., Moshfeghi, D.M., Thirumalaichary, S., Li, X., Jiang, L., Zhang, H., Zhang, S., Kaiser, P.K., Traboulsi, E.I., Zhang, K. Am. J. Ophthalmol. (2003) [Pubmed]
  26. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Farrar, G.J., Kenna, P., Jordan, S.A., Kumar-Singh, R., Humphries, M.M., Sharp, E.M., Sheils, D.M., Humphries, P. Nature (1991) [Pubmed]
  27. Analysis of peripherin/RDS gene for Japanese retinal dystrophies. Fujiki, K., Hotta, Y., Hayakawa, M., Fujimaki, T., Takeda, M., Isashiki, Y., Ohba, N., Kanai, A. Jpn. J. Ophthalmol. (1998) [Pubmed]
  28. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Bascom, R.A., Manara, S., Collins, L., Molday, R.S., Kalnins, V.I., McInnes, R.R. Neuron (1992) [Pubmed]
  29. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Yanagihashi, S., Nakazawa, M., Kurotaki, J., Sato, M., Miyagawa, Y., Ohguro, H. Arch. Ophthalmol. (2003) [Pubmed]
  30. A novel tetraspanin fusion protein, peripherin-2, requires a region upstream of the fusion domain for activity. Damek-Poprawa, M., Krouse, J., Gretzula, C., Boesze-Battaglia, K. J. Biol. Chem. (2005) [Pubmed]
  31. Utility of molecular testing for related retinal dystrophies. Mezer, E., Sutherland, J., Goei, S.L., Héon, E., Levin, A.V. Can. J. Ophthalmol. (2006) [Pubmed]
  32. Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene). Schatz, P., Abrahamson, M., Eksandh, L., Ponjavic, V., Andréasson, S. Acta ophthalmologica Scandinavica. (2003) [Pubmed]
  33. Peripherin, a neuronal intermediate protein, is stably expressed by neuroendocrine carcinomas of the skin, their xenograft on nude mice, and the corresponding primary cultures. Baudoin, C., Meneguzzi, G., Portier, M.M., Demarchez, M., Bernerd, F., Pisani, A., Ortonne, J.P. Cancer Res. (1993) [Pubmed]
  34. Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease. Corbo, M., Hays, A.P. J. Neuropathol. Exp. Neurol. (1992) [Pubmed]
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