Gene: OPTN

Alternate names for this Gene: ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p13

Description of this Gene: optineurin

Type of Gene: protein-coding

rs267606929 in OPTN gene and AMYOTROPHIC LATERAL SCLEROSIS 12 PMID 20428114 2010 Mutations of optineurin in amyotrophic lateral sclerosis.

PMID 27534431 2017 A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

rs1346865805 in OPTN gene and Glaucoma, Primary Open Angle PMID 22854040 2012 Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

PMID 15226658 2004 Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

PMID 23669351 2013 Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

PMID 17389490 2007 A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

PMID 12939304 2003 Among them, only E103D, H486R, V148V, and IVS13+21C-->G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G-->A were present only in control subjects.

PMID 15326130 2004 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

PMID 11834836 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

PMID 14597044 2003 Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

PMID 15557444 2004 Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

PMID 24752605 2014 E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.

PMID 20085643 2010 Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.

PMID 12939304 2003 Different optineurin mutation pattern in primary open-angle glaucoma.

PMID 23669351 2013 The optineurin (OPTN) E50K mutation was first identified in familial primary open-angle glaucoma (POAG), the onset of which is not associated with intraocular pressure (IOP) elevation, and is classified as normal-tension glaucoma (NTG).

PMID 12939304 2003 Among them, only E103D, H486R, V148V, and IVS13+21C-->G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G-->A were present only in control subjects.

rs142812715 in OPTN gene and Motor Neuron Disease PMID 28089114 2017 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

rs1561570 in OPTN gene and Osteitis Deformans PMID 20436471 2010 Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

rs1561570 in OPTN gene and Paget Disease PMID 20436471 2010 Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.