Gene Gene information from NCBI Gene database.
Entrez ID 80207
Gene name Outer mitochondrial membrane lipid metabolism regulator OPA3
Gene symbol OPA3
Synonyms (NCBI Gene)
MGA3
Chromosome 19
Chromosome location 19q13.32
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606580 8142 ENSG00000125741
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
3-Methylglutaconic aciduria type 3 Likely pathogenic; Pathogenic rs1230629432, rs2122440638, rs80356523, rs747890876, rs80356525, rs80356526, rs2513861191, rs1475568526, rs1241537518, rs1466115591, rs2513824298, rs2501240893, rs2513861253, rs2513823606, rs28937899
View all (9 more)
RCV001378889
RCV003992551
RCV002319755
RCV002627959
RCV000004461
RCV000814602
RCV000004464
RCV003040257
RCV003471640
RCV003471642
RCV003471643
RCV003471644
RCV003471645
RCV004574416
RCV004574417
RCV000020909
RCV000410015
RCV000673633
RCV000671538
RCV000673708
RCV000667910
RCV000667708
RCV001272532
RCV001175256
RCV001224154
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy 3 Likely pathogenic; Pathogenic rs1230629432, rs80356523, rs747890876, rs80356524, rs80356525, rs2513861191, rs886037828, rs1555730159, rs1225701554, rs1568413644, rs1969382362 RCV001378889
RCV003775028
RCV002627959
RCV000798887
RCV000004462
RCV000004463
RCV003040257
RCV000258065
RCV005019161
RCV005019122
RCV001387584
RCV001224154
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
3-Methylglutaconic aciduria Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Achromatopsia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ataxia Associate 31928268
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Associate 20350831
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 35176941
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Inhibit 30991875
★☆☆☆☆
Found in Text Mining only
Cataract Associate 18496845, 21036400, 31928268
★☆☆☆☆
Found in Text Mining only
Costeff optic atrophy syndrome Associate 11668429, 20350831, 31928268
★☆☆☆☆
Found in Text Mining only
Neurologic Manifestations Associate 11668429
★☆☆☆☆
Found in Text Mining only
Optic Atrophies Hereditary Associate 19319978, 20372962
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Associate 11668429, 20350831, 20372962, 21036400, 31928268
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy Autosomal Dominant Associate 16648378, 18496845, 19319978, 21036400, 35273349
★☆☆☆☆
Found in Text Mining only