Property Summary

NCBI Gene PubMed Count 28
Grant Count 9
Funding $422,904.59
PubMed Score 58.78
PubTator Score 35.53

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.038 0.000
medulloblastoma -1.100 0.000

Gene RIF (16)

PMID Text
25205859 Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy.
24136862 Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant.
23700088 A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia.
21036400 OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases.
21036400 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20801516 Observational study of genetic testing. (HuGE Navigator)
20372962 OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy.
20350831 findings thus place the cellular metabolic defect of 3-methylglutaconic aciduria type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology.
19319978 OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy
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AA Sequence

MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRIMGFRGTVIKP      1 - 70
LNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQV     71 - 140
QAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK                                   141 - 179
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Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25205859 2014 Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24136862 2013 A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
23700088 2013 A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
22064162 2012 Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
21269460 2011 Initial characterization of the human central proteome.
21036400 2011 Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
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