OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80207
Gene name Gene Name - the full gene name approved by the HGNC.
Outer mitochondrial membrane lipid metabolism regulator OPA3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OPA3
Synonyms (NCBI Gene) Gene synonyms aliases
MGA3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
SNP ID Visualize variation Clinical significance Consequence
rs28937899 G>A Likely-pathogenic Stop gained, intron variant, coding sequence variant
rs58537694 TTTATTTA>-,TTTA,TTTATTTATTTA,TTTATTTATTTATTTA,TTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTA Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant, 3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs80356523 C>G Pathogenic Intron variant, splice acceptor variant
rs80356524 C>T Pathogenic Intron variant, coding sequence variant, missense variant
rs80356525 G>A,C Pathogenic Intron variant, coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(976)
miRTarBase ID miRNA Experiments Reference
MIRT041812 hsa-miR-484 CLASH 23622248
MIRT036292 hsa-miR-1229-3p CLASH 23622248
MIRT052849 hsa-miR-3615 CLASH 23622248
MIRT635830 hsa-miR-504-5p HITS-CLIP 19536157
MIRT724452 hsa-miR-10a-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion NAS 11668429
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606580 8142 ENSG00000125741
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H6K4
Protein name Optic atrophy 3 protein
Protein function May play some role in mitochondrial processes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07047 OPA3 6 → 129 Optic atrophy 3 protein (OPA3) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Most prominent expression in skeletal muscle and kidney. {ECO:0000269|PubMed:11668429}.
Sequence
Sequence length 179
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
3-Methylglutaconic aciduria 3-Methylglutaconic aciduria type 3 rs80356526, rs28937899, rs1057516497, rs1555736803, rs1555736814, rs1555736793, rs1568413644, rs80356523 N/A
Optic Atrophy Optic atrophy 3 rs80356524, rs80356525, rs886037828 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
foveal hypoplasia Foveal hypoplasia N/A N/A ClinVar
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 31928268
Basal Ganglia Diseases Associate 20350831
Carcinoma Hepatocellular Stimulate 35176941
Carcinoma Squamous Cell Inhibit 30991875
Cataract Associate 18496845, 21036400, 31928268
Costeff optic atrophy syndrome Associate 11668429, 20350831, 31928268
Neurologic Manifestations Associate 11668429
Optic Atrophies Hereditary Associate 19319978, 20372962
Optic Atrophy Associate 11668429, 20350831, 20372962, 21036400, 31928268
Optic Atrophy Autosomal Dominant Associate 16648378, 18496845, 19319978, 21036400, 35273349