Description: Homo sapiens optineurin (OPTN), transcript variant 4, mRNA. RefSeq Summary (NM_021980): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr10:13,142,082-13,180,276 Size: 38,195 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr10:13,151,123-13,178,866 Size: 27,744 Coding Exon Count: 13
glaucoma Tang, S. et al. 2003, The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene., Human genetics. 2003 Aug;113(3):276-9.
[PubMed 12811537]
No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.
glaucoma Hauser, M. A. et al. 2006, Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States, J Glaucoma 2006 15(5) 358-363.
[PubMed 16988596]
The results of this study support the rare association of OPTN sequence variants with familial forms of LTG.
glaucoma Sripriya, S. et al. 2006, OPTN gene, Mol Vis 2006 12 816-20.
[PubMed 16885925]
The current study suggests a possible role of SNPs rather than mutations in OPTN in POAG pathology in the Indian population.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF11577 - NF-kappa-B essential modulator NEMO PF16516 - Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
ModBase Predicted Comparative 3D Structure on Q96CV9-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
