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Aliases for OPA3 Gene

Aliases for OPA3 Gene

  • Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic Paraplegia) 2 3 5
  • Optic Atrophy 3 (Iraqi-Jewish Optic Atrophy Plus) 3
  • MGA3 3

External Ids for OPA3 Gene

Previous GeneCards Identifiers for OPA3 Gene

  • GC19M046699
  • GC19M046421
  • GC19M050706
  • GC19M050722
  • GC19M050747
  • GC19M046031
  • GC19M042461

Summaries for OPA3 Gene

Entrez Gene Summary for OPA3 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 encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for OPA3 Gene

OPA3 (Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic Paraplegia)) is a Protein Coding gene. Diseases associated with OPA3 include Optic Atrophy 3 With Cataract and 3-Methylglutaconic Aciduria, Type Iii.

UniProtKB/Swiss-Prot for OPA3 Gene

  • May play some role in mitochondrial processes.

Gene Wiki entry for OPA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPA3 Gene

Genomics for OPA3 Gene

Regulatory Elements for OPA3 Gene

Enhancers for OPA3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OPA3 on UCSC Golden Path with GeneCards custom track

Promoters for OPA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OPA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for OPA3 Gene

45,526,863 bp from pter
45,602,212 bp from pter
75,350 bases
Minus strand

Genomic View for OPA3 Gene

Genes around OPA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPA3 Gene

Proteins for OPA3 Gene

  • Protein details for OPA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Optic atrophy 3 protein
    Protein Accession:
    Secondary Accessions:
    • Q6P384
    • Q8N784

    Protein attributes for OPA3 Gene

    179 amino acids
    Molecular mass:
    19996 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OPA3 Gene


neXtProt entry for OPA3 Gene

Proteomics data for OPA3 Gene at MOPED

Post-translational modifications for OPA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OPA3 Gene

No data available for DME Specific Peptides for OPA3 Gene

Domains & Families for OPA3 Gene

Protein Domains for OPA3 Gene


Suggested Antigen Peptide Sequences for OPA3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the OPA3 family.
  • Belongs to the OPA3 family.
genes like me logo Genes that share domains with OPA3: view

No data available for Gene Families for OPA3 Gene

Function for OPA3 Gene

Molecular function for OPA3 Gene

UniProtKB/Swiss-Prot Function:
May play some role in mitochondrial processes.
genes like me logo Genes that share phenotypes with OPA3: view

Human Phenotype Ontology for OPA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for OPA3 Gene

miRTarBase miRNAs that target OPA3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OPA3 Gene

Localization for OPA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPA3 Gene


Subcellular locations from

Jensen Localization Image for OPA3 Gene COMPARTMENTS Subcellular localization image for OPA3 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for OPA3 Gene

Pathways & Interactions for OPA3 Gene

SuperPathways for OPA3 Gene

No Data Available

Interacting Proteins for OPA3 Gene

Gene Ontology (GO) - Biological Process for OPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IMP 15342707
GO:0040007 growth IEA --
GO:0050905 neuromuscular process IEA --
GO:0070584 mitochondrion morphogenesis IEA --
genes like me logo Genes that share ontologies with OPA3: view

No data available for Pathways by source and SIGNOR curated interactions for OPA3 Gene

Drugs & Compounds for OPA3 Gene

(1) Additional Compounds for OPA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OPA3: view

Transcripts for OPA3 Gene

Unigene Clusters for OPA3 Gene

Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OPA3 Gene

No ASD Table

Relevant External Links for OPA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OPA3 Gene

mRNA expression in normal human tissues for OPA3 Gene

Protein differential expression in normal tissues from HIPED for OPA3 Gene

This gene is overexpressed in Bone (8.2) and Gallbladder (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for OPA3 Gene

SOURCE GeneReport for Unigene cluster for OPA3 Gene Hs.466945

mRNA Expression by UniProt/SwissProt for OPA3 Gene

Tissue specificity: Ubiquitous. Most prominent expression in skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with OPA3: view

Protein tissue co-expression partners for OPA3 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for OPA3 Gene

Orthologs for OPA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for OPA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OPA3 35
  • 84.88 (n)
  • 77.33 (a)
OPA3 36
  • 69 (a)
(Canis familiaris)
Mammalia OPA3 35
  • 82.5 (n)
  • 72.63 (a)
OPA3 36
  • 73 (a)
(Mus musculus)
Mammalia Opa3 35
  • 80.08 (n)
  • 76.83 (a)
Opa3 16
Opa3 36
  • 71 (a)
(Monodelphis domestica)
Mammalia OPA3 36
  • 61 (a)
(Anolis carolinensis)
Reptilia OPA3 36
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia opa3 35
  • 60.96 (n)
  • 63.7 (a)
Str.4451 35
(Danio rerio)
Actinopterygii Dr.24896 35
opa3 35
  • 62.65 (n)
  • 65.96 (a)
opa3 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001401 35
  • 56.76 (n)
  • 50 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13601 35
  • 55.41 (n)
  • 43.24 (a)
CG13601 36
  • 27 (a)
CG13602 36
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
Species with no ortholog for OPA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPA3 Gene

Gene Tree for OPA3 (if available)
Gene Tree for OPA3 (if available)

Paralogs for OPA3 Gene

No data available for Paralogs for OPA3 Gene

Variants for OPA3 Gene

Sequence variations from dbSNP and Humsavar for OPA3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_033103 Optic atrophy 3 (OPA3)
VAR_033104 Optic atrophy 3 (OPA3)
rs7256951 -- 45,572,968(+) ttaga(C/T)acaat intron-variant
rs7258777 -- 45,578,808(+) GGTGT(C/T)GGAGT intron-variant
rs7259298 -- 45,579,126(+) CCTGA(C/T)AATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPA3 Gene

Variant ID Type Subtype PubMed ID
nsv912154 CNV Loss 21882294
nsv833848 CNV Loss 17160897
nsv912155 CNV Loss 21882294
esv2718632 CNV Deletion 23290073
nsv520061 CNV Loss 19592680

Variation tolerance for OPA3 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPA3 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPA3 Gene

Disorders for OPA3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for OPA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 3 with cataract
  • optic atrophy plus syndrome
3-methylglutaconic aciduria, type iii
  • optic atrophy plus syndrome
3-methylglutaconic aciduria
optic atrophy plus syndrome
  • optic atrophy
marinesco-sjogren syndrome
  • marinesco-sjögren syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OPA3 in MalaCards View complete list of genes associated with diseases


  • 3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: A metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels. {ECO:0000269 PubMed:11668429}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Optic atrophy 3 (OPA3) [MIM:165300]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. {ECO:0000269 PubMed:15342707}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OPA3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with OPA3: view

No data available for Genatlas for OPA3 Gene

Publications for OPA3 Gene

  1. Type 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. (PMID: 11668429) Anikster Y. … Elpeleg O. (Am. J. Hum. Genet. 2001) 2 3 4 23 67
  2. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (PMID: 20350831) Huizing M. … Anikster Y. (Mol. Genet. Metab. 2010) 3 23
  3. [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]. (PMID: 16838891) Fink N. … Mouallem M. (Harefuah 2006) 3 23
  4. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. (PMID: 9097959) Nystuen A. … Sheffield V.C. (Hum. Mol. Genet. 1997) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for OPA3 Gene

Sources for OPA3 Gene