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Validated All-in-One™ qPCR Primer for OPTN(NM_001008211.1) Search again
Product ID:
HQP000165
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Gene Description:
optineurin
Target Gene Accession:
NM_001008211.1(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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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.
Gene References into function
- identified as an adult-onset primary open-angle glaucoma gene
- Expression of optineurin in the trabecular meshwork is influenced by elevated intraocular pressure
- This study suggests that alterations in OPTN gene expression are not involved in the mechanisms regulating aqueous humor outflow after an increase in intraocular eye pressure.
- 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.
- The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma
- The association of OPTN missense mutation M98K with normal tension glaucoma but not high tension glaucoma suggests genetic heterogeneity between these two phenotypes.
- OPTN gene is the causative gene for POAG (primary open-angle glaucoma) and suggest a different mutation pattern of OPTN in Chinese than in whites.
- This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma.
- The OPTN M98K amino acid substitution mutation is potentially the most important single genetic factor contributing to genetic predisposition to primary open angle glaucoma.
- Identification of Optineurin as an adult-onset glaucoma gene and its known interaction with a group of proteins provides the first opportunity to study biochemical pathways that are thought to be involved in causation of this group of eye disorders.
- The association of the allelic variation (Met98Lys) in the OPTN gene in Japanese patients suggest that they are involved in the pathogenesis of POAG primary open-angle glaucoma) and NTG.
- Mutations in OPTN are not specifically associated with low-pressure glaucoma, but can play a role in juvenile open-angle glaucoma.
- Polymorphismsin in optineurin gene is associayed with glaucoma disease progression
- Cross-sectional analysis from baseline observations of the BMES suggested that the M98K risk-associated allele appeared at a higher prevalence in high-tension glaucoma compared with controls
- OPTN gene is associated with primary open-angle glaucoma rather than normal-tension glaucoma in Japanese. Statistical analysis showed possible interaction between polymorphisms in OPTN and the TNF-alpha genes that would increase risk for glaucoma.
- The findings in the current study provide further evidence that MYOC and OPTN gene variants are rare causes of NTG normal tension glaucoma).
- In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG (normal tension glaucoma) that appeared to be more severe than that in a control group
- mGLuR1a signaling is attenuated by the huntingtin-binding protein optineurin
- Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin.
- Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci.
- In this population, mutations in the optineurin gene are not associated with adult-onset primary open-angle glaucoma.
- The results of this study support the rare association of OPTN sequence variants with familial forms of LTG.
- The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.
- This study highlights a possible role of OPTN in vesicle trafficking and Golgi integrity. It also provides in-sights into the possible mechanisms why E50K would exhibit a propensity toward the development of glaucoma.
- 3.59% of our primary open-angle glaucoma patients had mutations in the CYP1B1, MYOC, and OPTN genes; first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients
- In Spain, a minority of adult-onset ocular hypertension (OHT) primary open-angle glaucoma (POAG) patients carry heterozygous disease-causing mutations in the MYOC gene and OPTN is not involved in either OHT or POAG.
- These results indicate that interaction exists between OPTN and MYOC genes.
- Optineurin competitively antagonized NEMO's binding to polyUb receptor-interacting protein, and its overexpression inhibited TNFalpha-induced NF-kappaB activation.
- These data therefore show that (i) Rab11a regulates cell surface abundance of both GLUT4 and FAT/CD36.
- Timolol can reduce MYOC RNA levels in HTM cultures from some individuals. Timolol does not alter OPTN or WDR36 levels or ameliorate MYOC induction by dexamethasone in vitro.
- The OPTN[E50K] mutant associated with Primary Open Angle Glaucoma (POAG) displayed strikingly enhanced binding to TBK1, suggesting that this interaction may contribute to familial POAG caused by this mutation.
- None of the mutations in OPTN are associated with juvenile-onset open-angle glaucoma. The variant M98K is not a risk factor and the variant c.-233+25C>G may be protective against glaucoma in Taiwanese.
- TNF-alpha, an inflammatory cytokine, disrupts the localization of polycystin-2 to the plasma membrane and primary cilia through a scaffold protein, FIP2, which is induced by TNF-alpha
- Coding variants in OPTN may not contribute to the risk for primary open-angle glaucoma in persons of West African descent.
- Our data show no association between the five evaluated variants and POAG in the Brazilian population.