OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3)

2021-06-01 Affiliation

Identity

HGNC

OPA3

LOCATION

19q13.32

LOCUSID

80207

ALIAS

MGA3

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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