OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3)

2021-06-01  

Identity

HGNC
OPA3
LOCATION
19q13.32
LOCUSID
80207
ALIAS
MGA3

Other Information

Locus ID:

NCBI: 80207
MIM: 606580
HGNC: 8142
Ensembl: ENSG00000125741

Variants:

dbSNP: 80207
ClinVar: 80207
TCGA: ENSG00000125741
COSMIC: OPA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125741ENST00000263275Q9H6K4
ENSG00000125741ENST00000323060Q9H6K4
ENSG00000125741ENST00000544371B4DK77

Expression (GTEx)

0
5
10
15
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186140152008A mitochondrial protein compendium elucidates complex I disease biology.709
128654262003Proteomic analysis of the mouse liver mitochondrial inner membrane.68
193199782009Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.46
193199782009Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.46
153427072004OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.43
116684292001Type 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.39
203729622010Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
210364002011Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.15
210364002011Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.15

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