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Gene Review

OPTN  -  optineurin

Homo sapiens

Synonyms: ALS12, E3-14.7K-interacting protein, FIP-2, FIP2, GLC1E, ...
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Disease relevance of OPTN


High impact information on OPTN


Chemical compound and disease context of OPTN

  • MATERIALS AND METHODS: Circulating NRP levels were determined in 94 patients who participated in a randomized trial of three different doses of the antiestrogen, droloxifene (DRO), as first-line HT for metastatic breast cancer [9].

Biological context of OPTN

  • METHODS: All the coding exons of OPTN were screened, including the intron-exon boundaries, for sequence alterations in a Chinese sample of 119 sporadic patients with POAG and 126 unrelated control subjects by polymerase chain reaction-conformation-sensitive gel electrophoresis and DNA sequencing [10].
  • Two single-nucleotide polymorphisms (SNPs) in OPTN (c.412G-->A and c.603T-->A) and one SNP in MYOC (c.227G-->A) were examined [2].
  • One haplotype that contains the minor alleles of 3 OPTN polymorphisms, T34T, IVS5+38T>G, and IVS7+24G>A, increased NTG risk (p=0.0002) [11].
  • The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study [1].
  • The present study tested whether OPTN sequence changes play a role in early-onset glaucoma characterized by elevated intraocular pressure [12].

Anatomical context of OPTN


Associations of OPTN with chemical compounds

  • If the reported mutation rates of OPTN in the LPG group can be confirmed in other LPG or POAG patients, then this gene would be useful in diagnosing presymptomatic persons many decades before they develop this silent and blinding eye condition [3].
  • OPTN expression is also induced 2.3-fold by TNFalpha and 2.6-fold by prolonged DEX treatment [13].
  • On nocodazole treatment, the OPTN foci were dispersed into the cytoplasm [16].
  • Utilizing the UNOS/OPTN (United Network for Organ Sharing/Organ Procurement Transplantation Network) database, we analysed 112 971 kidney waiting list registrations added during 6/3/95-31/12/00, and 8162 HLA zero-mismatched (0 mm) primary kidney transplants in the USA during 1/1/88-31/3/02 [17].
  • Cancer incidence associated with AZA versus CYA, CYA versus TAC, and AZA versus mycophenolate mofetil (MMF) is compared in both transplant center and registry reports including new, unreported Organ Procurement and Transplantation Network/United Network for Organ Sharing (OPTN/UNOS) data from 1998 to 2003 [18].

Physical interactions of OPTN


Other interactions of OPTN

  • Common polymorphisms in MYOC, OPTN, and APOE might interactively contribute to POAG, indicating a polygenic etiology [11].
  • The combination of OLFM2/317G and OPTN/603A was significantly associated with elevated IOP (P = 0.018) [2].
  • This rat clone was sequenced and the primary structure of the human homolog (termed TFIIIA-intP for TFIIIA-interacting protein) was determined from expressed sequence tags [19].
  • CONCLUSION: Data from this study do not support a strong role for the OPTN Met98Lys variant in glaucoma, ADOA or LHON [4].
  • CONCLUSIONS: These findings demonstrated that the OPTN gene is associated with POAG rather than NTG in the Japanese. Statistical analysis showed a possible interaction between polymorphisms in the OPTN and the TNF-alpha genes that would increase the risk for glaucoma [21].
  • We show that optineurin has a K63-linked polyUb-binding region similar to that of NEMO, and like NEMO, it bound K63- but not K48-linked polyUb [22].

Analytical, diagnostic and therapeutic context of OPTN

  • METHODS: All coding exons of the OPTN and MYOC genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing [23].
  • In addition, two novel sequence variants (A336G and A377T) in the OPTN gene were identified that were not present in a control group [23].
  • No other OPTN variants were identified in this study cohort [24].
  • Interaction of rat TFIIIA with rat TFIIIA-intP was indicated by co-chromatography of the two proteins on DEAE-5PW following fractionation of a rat liver extract on cation, anion and gel filtration resins [19].
  • METHODS: Between 1988 and 1999, 117,501 adult kidney transplants were reported to Organ Procurement and Transplantation Network/United Network for Organ Sharing (OPTN/UNOS) [25].


  1. The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study. Forsman, E., Lemmelä, S., Varilo, T., Kristo, P., Forsius, H., Sankila, E.M., Järvelä, I. Mol. Vis. (2003) [Pubmed]
  2. SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma. Funayama, T., Mashima, Y., Ohtake, Y., Ishikawa, K., Fuse, N., Yasuda, N., Fukuchi, T., Murakami, A., Hotta, Y., Shimada, N. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  3. Optineurin in primary open angle glaucoma. Sarfarazi, M., Rezaie, T. Ophthalmology clinics of North America. (2003) [Pubmed]
  4. The role of the Met98Lys optineurin variant in inherited optic nerve diseases. Craig, J.E., Hewitt, A.W., Dimasi, D.P., Howell, N., Toomes, C., Cohn, A.C., Mackey, D.A. The British journal of ophthalmology. (2006) [Pubmed]
  5. Model for end-stage liver disease (MELD) and allocation of donor livers. Wiesner, R., Edwards, E., Freeman, R., Harper, A., Kim, R., Kamath, P., Kremers, W., Lake, J., Howard, T., Merion, R.M., Wolfe, R.A., Krom, R. Gastroenterology (2003) [Pubmed]
  6. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. Sahlender, D.A., Roberts, R.C., Arden, S.D., Spudich, G., Taylor, M.J., Luzio, J.P., Kendrick-Jones, J., Buss, F. J. Cell Biol. (2005) [Pubmed]
  7. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Sarfarazi, M., Child, A., Stoilova, D., Brice, G., Desai, T., Trifan, O.C., Poinoosawmy, D., Crick, R.P. Am. J. Hum. Genet. (1998) [Pubmed]
  8. Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Li, Y., Kang, J., Horwitz, M.S. Mol. Cell. Biol. (1998) [Pubmed]
  9. Prediction of response to antiestrogen therapy in advanced breast cancer patients by pretreatment circulating levels of extracellular domain of the HER-2/c-neu protein. Yamauchi, H., O'Neill, A., Gelman, R., Carney, W., Tenney, D.Y., Hösch, S., Hayes, D.F. J. Clin. Oncol. (1997) [Pubmed]
  10. Different optineurin mutation pattern in primary open-angle glaucoma. Leung, Y.F., Fan, B.J., Lam, D.S., Lee, W.S., Tam, P.O., Chua, J.K., Tham, C.C., Lai, J.S., Fan, D.S., Pang, C.P. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  11. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Fan, B.J., Wang, D.Y., Fan, D.S., Tam, P.O., Lam, D.S., Tham, C.C., Lam, C.Y., Lau, T.C., Pang, C.P. Mol. Vis. (2005) [Pubmed]
  12. Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Willoughby, C.E., Chan, L.L., Herd, S., Billingsley, G., Noordeh, N., Levin, A.V., Buys, Y., Trope, G., Sarfarazi, M., Héon, E. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  13. Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. Vittitow, J., Borrás, T. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  14. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. Fuse, N., Takahashi, K., Akiyama, H., Nakazawa, T., Seimiya, M., Kuwahara, S., Tamai, M. Journal of glaucoma. (2004) [Pubmed]
  15. Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation. Kamphuis, W., Schneemann, A. Ophthalmic Res. (2003) [Pubmed]
  16. Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. Park, B.C., Shen, X., Samaraweera, M., Yue, B.Y. Am. J. Pathol. (2006) [Pubmed]
  17. ABO blood group influences a candidate's likelihood of receiving an HLA zero antigen mismatch kidney. Bryan, C.F., Cherikh, W.S., Cheng, Y., Aeder, M.I., Muruve, N.A., Nelson, P.W., Shield, C.F., Warady, B.A., Winklhofer, F.T. Clinical transplantation. (2004) [Pubmed]
  18. Post-transplant de novo malignancies in renal transplant recipients: the past and present. Kauffman, H.M., Cherikh, W.S., McBride, M.A., Cheng, Y., Hanto, D.W. Transpl. Int. (2006) [Pubmed]
  19. Identification of a transcription factor IIIA-interacting protein. Moreland, R.J., Dresser, M.E., Rodgers, J.S., Roe, B.A., Conaway, J.W., Conaway, R.C., Hanas, J.S. Nucleic Acids Res. (2000) [Pubmed]
  20. FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. Hattula, K., Peränen, J. Curr. Biol. (2000) [Pubmed]
  21. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. Funayama, T., Ishikawa, K., Ohtake, Y., Tanino, T., Kurosaka, D., Kimura, I., Suzuki, K., Ideta, H., Nakamoto, K., Yasuda, N., Fujimaki, T., Murakami, A., Asaoka, R., Hotta, Y., Tanihara, H., Kanamoto, T., Mishima, H., Fukuchi, T., Abe, H., Iwata, T., Shimada, N., Kudoh, J., Shimizu, N., Mashima, Y. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  22. Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP. Zhu, G., Wu, C.J., Zhao, Y., Ashwell, J.D. Curr. Biol. (2007) [Pubmed]
  23. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Weisschuh, N., Neumann, D., Wolf, C., Wissinger, B., Gramer, E. Mol. Vis. (2005) [Pubmed]
  24. Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. Baird, P.N., Richardson, A.J., Craig, J.E., Mackey, D.A., Rochtchina, E., Mitchell, P. Clin. Experiment. Ophthalmol. (2004) [Pubmed]
  25. Similar risk profiles for post-transplant renal dysfunction and long-term graft failure: UNOS/OPTN database analysis. Siddiqi, N., McBride, M.A., Hariharan, S. Kidney Int. (2004) [Pubmed]
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