Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80207
MIM: 606580
HGNC: 8142
Ensembl: ENSG00000125741
Variants:
dbSNP: 80207
ClinVar: 80207
TCGA: ENSG00000125741
COSMIC: OPA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125741 | ENST00000263275 | Q9H6K4 |
| ENSG00000125741 | ENST00000323060 | Q9H6K4 |
| ENSG00000125741 | ENST00000544371 | B4DK77 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30991875 | 2019 | Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma. | 6 |
| 31928268 | 2019 | Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. | 3 |
| 30991875 | 2019 | Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma. | 6 |
| 31928268 | 2019 | Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. | 3 |
| 25205859 | 2014 | Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy. | 13 |
| 25205859 | 2014 | Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy. | 13 |
| 23700088 | 2013 | A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. | 15 |
| 24136862 | 2013 | A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. | 20 |
| 23700088 | 2013 | A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. | 15 |
| 24136862 | 2013 | A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. | 20 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21036400 | 2011 | Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. | 25 |
| 21036400 | 2011 | Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. | 25 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21036400 | 2011 | Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. | 25 |
Citation
Dessen P
OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3)
Atlas Genet Cytogenet Oncol Haematol. 2021-06-01
Online version: http://atlasgeneticsoncology.org/gene/58285/opa3-(outer-mitochondrial-membrane-lipid-metabolism-regulator-opa3)
