Property Summary

NCBI Gene PubMed Count 28
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 2.4e-05
medulloblastoma -1.100 9.3e-06

Pathway (1)

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
19319978 Observational study of gene-disease association. (HuGE Navigator)
18614015 The mouse ortholog of OPA3 purifies with mitochondria
16838891 patient with Costeff syndrome presenting the characteristics of this syndrome and the single-nucleotide polymorphic gene that causes this disease.
15342707 two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC)
12865426 The mouse ortholog of OPA3 purifies with mitochondrial inner membranes.
11668429 type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

AA Sequence

MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRIMGFRGTVIKP      1 - 70
LNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQV     71 - 140
QAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK                                   141 - 179
//

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.
20372962 2010 Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.
20350831 2010 OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
19319978 2009 Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.
16838891 2006 [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342707 2004 OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
13703570 1961 [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms].
12865426 2003 Proteomic analysis of the mouse liver mitochondrial inner membrane.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12126933 2002 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
11668429 2001 Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11076863 2000 DNA cloning using in vitro site-specific recombination.
9097959 1997 Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.