Optineurin

Optineurin
Identifiers
Symbols	OPTN ; NRP; FIP2; GLC1E; HIP7; HYPL; TFIIIA-INTP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11085
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE OPTN 202073 at tn.png
File:PBB GE OPTN 202074 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Optineurin, also known as OPTN, is a human gene.

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein.

Further reading

• Sarfarazi M, Rezaie T (2004). "Optineurin in primary open angle glaucoma". Ophthalmology clinics of North America. 16 (4): 529–41. PMID 14740994.
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. PMID 9110174.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Li Y, Kang J, Horwitz MS (1998). "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains". Mol. Cell. Biol. 18 (3): 1601–10. PMID 9488477.CS1 maint: Multiple names: authors list (link)
• Sarfarazi M, Child A, Stoilova D; et al. (1998). "Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region". Am. J. Hum. Genet. 62 (3): 641–52. PMID 9497264.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Faber PW, Barnes GT, Srinidhi J; et al. (1998). "Huntingtin interacts with a family of WW domain proteins". Hum. Mol. Genet. 7 (9): 1463–74. PMID 9700202.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fong KS, de Couet HG (1999). "Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system". Genomics. 58 (2): 146–57. doi:10.1006/geno.1999.5817. PMID 10366446.
• Moreland RJ, Dresser ME, Rodgers JS; et al. (2000). "Identification of a transcription factor IIIA-interacting protein". Nucleic Acids Res. 28 (9): 1986–93. PMID 10756201.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schwamborn K, Weil R, Courtois G; et al. (2000). "Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway". J. Biol. Chem. 275 (30): 22780–9. doi:10.1074/jbc.M001500200. PMID 10807909.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hattula K, Peränen J (2001). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Curr. Biol. 10 (24): 1603–6. PMID 11137014.
• Hales CM, Griner R, Hobdy-Henderson KC; et al. (2001). "Identification and characterization of a family of Rab11-interacting proteins". J. Biol. Chem. 276 (42): 39067–75. doi:10.1074/jbc.M104831200. PMID 11495908.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rezaie T, Child A, Hitchings R; et al. (2002). "Adult-onset primary open-angle glaucoma caused by mutations in optineurin". Science. 295 (5557): 1077–9. doi:10.1126/science.1066901. PMID 11834836.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vittitow J, Borrás T (2002). "Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure". Biochem. Biophys. Res. Commun. 298 (1): 67–74. PMID 12379221.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kamphuis W, Schneemann A (2003). "Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation". Ophthalmic Res. 35 (2): 93–6. doi:10.1159/000069133. PMID 12646749.
• Tang S, Toda Y, Kashiwagi K; et al. (2003). "The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene". Hum. Genet. 113 (3): 276–9. doi:10.1007/s00439-003-0964-y. PMID 12811537.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wiggs JL, Auguste J, Allingham RR; et al. (2003). "Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma". Arch. Ophthalmol. 121 (8): 1181–3. doi:10.1001/archopht.121.8.1181. PMID 12912697.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aung T, Ebenezer ND, Brice G; et al. (2003). "Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing". J. Med. Genet. 40 (8): e101. PMID 12920093.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leung YF, Fan BJ, Lam DS; et al. (2003). "Different optineurin mutation pattern in primary open-angle glaucoma". Invest. Ophthalmol. Vis. Sci. 44 (9): 3880–4. PMID 12939304.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Alward WL, Kwon YH, Kawase K; et al. (2003). "Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma". Am. J. Ophthalmol. 136 (5): 904–10. PMID 14597044.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)