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] See more...

Aliases for OPA3 Gene

Aliases for OPA3 Gene

  • Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3 2 3 5
  • Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic Paraplegia) 2 3
  • Optic Atrophy 3 Protein 3 4
  • OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator 2
  • OPA3 Outer Mitochondrial Membrane Lipid Metabolism Regulator 3
  • 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 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3) is a Protein Coding gene. Diseases associated with OPA3 include Optic Atrophy 3, Autosomal Dominant and 3-Methylglutaconic Aciduria, Type Iii.

UniProtKB/Swiss-Prot Summary for OPA3 Gene

Gene Wiki entry for OPA3 Gene

Additional gene information for OPA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPA3 Gene

Genomics for OPA3 Gene

GeneHancer (GH) Regulatory Elements for OPA3 Gene

Promoters and enhancers for OPA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J045583 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.4 +17.7 17664 2.7 EP300 ZBTB40 ZNF217 CTCF TCF12 NRF1 USF1 POLR2G SP1 NCOR1 OPA3 lnc-VASP-1 piR-57461-112 IRF2BP1 EXOC3L2
GH19J045602 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl dbSUPER 500.7 +0.8 811 2 EZH2 RBM25 NR2F2 BCOR ZNF777 ZNF335 IKZF3 ZNF398 PCBP1 ZNF48 GPR4 OPA3 lnc-EML2-1 PPP5D1 EML2 NOVA2
GH19J045690 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -90.1 -90133 3.5 FOXK2 ZBTB40 ZNF217 CTCF TCF12 SIN3A NRF1 USF1 POLR2G SP1 QPCTL SNRPD2 MF281430-046 lnc-SNRPD2-1 ENSG00000267114 FBXO46 BHMG1 EML2 GPR4 OPA3
GH19J045568 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.2 +33.2 33201 2.8 CTCF ZSCAN5C TCF12 NRF1 ZNF639 ZIC2 REST CUX1 RAD21 TRIM22 CCDC61 SYMPK OPA3 CLASRP BLOC1S3 VASP ENSG00000269148 FBXO46 RTN2 PPM1N
GH19J045575 Enhancer 1.1 ENCODE dbSUPER 12.5 +25.0 24951 3.8 ZNF217 TCF12 NCOR1 JUND FOS KDM6A CUX1 SKI ZBTB26 HINFP GPR4 OPA3 MIR330 EML2 HSALNG0126578 piR-57461-112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPA3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OPA3

Top Transcription factor binding sites by QIAGEN in the OPA3 gene promoter:
  • AML1a
  • AP-2rep
  • Arnt
  • GATA-1
  • GATA-2
  • NF-1
  • Sp1
  • ZIC2

Genomic Locations for OPA3 Gene

Genomic Locations for OPA3 Gene
chr19:45,526,863-45,602,212
(GRCh38/hg38)
Size:
75,350 bases
Orientation:
Minus strand
chr19:46,030,685-46,105,470
(GRCh37/hg19)
Size:
74,786 bases
Orientation:
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:
    Q9H6K4-OPA3_HUMAN
    Recommended name:
    Optic atrophy 3 protein
    Protein Accession:
    Q9H6K4
    Secondary Accessions:
    • Q6P384
    • Q8N784

    Protein attributes for OPA3 Gene

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

    Alternative splice isoforms for OPA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPA3 Gene

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

Gene Families for OPA3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for OPA3 Gene

Blocks:
  • Optic atrophy 3
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OPA3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57883, highly similar to Optic atrophy 3 protein (B4DK77_HUMAN)
  • Optic atrophy 3 protein (OPA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6K4

UniProtKB/Swiss-Prot:

OPA3_HUMAN :
  • Belongs to the OPA3 family.
Family:
  • Belongs to the OPA3 family.
genes like me logo Genes that share domains with OPA3: view

Function for OPA3 Gene

Molecular function for OPA3 Gene

UniProtKB/Swiss-Prot Function:
May play some role in mitochondrial processes.

Phenotypes From GWAS Catalog for OPA3 Gene

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

CRISPR Products

miRNA for OPA3 Gene

miRTarBase miRNAs that target OPA3

Clone Products

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPA3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
peroxisome 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 11668429
genes like me logo Genes that share ontologies with OPA3: view

Pathways & Interactions for OPA3 Gene

PathCards logo

SuperPathways for OPA3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IMP 15342707
GO:0019216 regulation of lipid metabolic process IBA 21873635
GO:0040008 regulation of growth IEA --
GO:0050896 response to stimulus IEA --
GO:0050905 neuromuscular process 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

mRNA/cDNA for OPA3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for OPA3 Gene

GeneLoc Exon Structure for
OPA3

Expression for OPA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for OPA3 Gene



Protein tissue co-expression partners for OPA3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OPA3

SOURCE GeneReport for Unigene cluster for OPA3 Gene:

Hs.466945

mRNA Expression by UniProt/SwissProt for OPA3 Gene:

Q9H6K4-OPA3_HUMAN
Tissue specificity: Ubiquitous. Most prominent expression in skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for OPA3 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Kidney(4.1)
  • Lung(4.1)
  • Eye(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPA3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with OPA3: view

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
cow
(Bos Taurus)
Mammalia OPA3 31 30
  • 84.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OPA3 31 30
  • 82.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Opa3 17 31 30
  • 80.08 (n)
oppossum
(Monodelphis domestica)
Mammalia OPA3 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPA3 31
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia opa3 30
  • 60.96 (n)
Str.4451 30
zebrafish
(Danio rerio)
Actinopterygii opa3 31 30
  • 62.65 (n)
OneToOne
Dr.24896 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001401 30
  • 56.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13601 31 30
  • 55.41 (n)
OneToMany
CG13602 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for OPA3 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for OPA3 (if available)
TreeFam:
Gene Tree for OPA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OPA3: view image

Paralogs for OPA3 Gene

No data available for Paralogs for OPA3 Gene

Variants for OPA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OPA3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
656181 Uncertain Significance: 3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 45,553,731(-) T/TGCTGCGCCTGGTG INFRAME_INSERTION,INTRON_VARIANT
659433 Uncertain Significance: 3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 45,529,131(-) C/CAGCT FRAMESHIFT_VARIANT
675500 Likely Benign: not provided 45,554,085(-) G/A INTRON_VARIANT
680432 Likely Benign: not provided 45,553,535(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs1022155897 Likely Benign: 3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 45,553,687(-) G/T SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for OPA3 Gene

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

Variant ID Type Subtype PubMed ID
esv2718632 CNV deletion 23290073
esv3583435 CNV loss 25503493
esv3644507 CNV loss 21293372
nsv1123264 CNV deletion 24896259
nsv520061 CNV loss 19592680
nsv833848 CNV loss 17160897

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)

Additional Variant Information for OPA3 Gene

Human Gene Mutation Database (HGMD)
OPA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPA3

SNP Genotyping and Copy Number Assay Products

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

Disorders for OPA3 Gene

MalaCards: The human disease database

(23) MalaCards diseases for OPA3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search OPA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPA3_HUMAN
  • 3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: An autosomal recessive 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.

Additional Disease Information for OPA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (American journal of human genetics 2001) 2 3 4 23 54
  2. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PMID: 22064162) Edwards AC … Dick DM (Psychiatric genetics 2012) 3 41 54
  3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 41 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (PMID: 20350831) Huizing M … Anikster Y (Molecular genetics and metabolism 2010) 3 23 54

Products for OPA3 Gene

Sources for OPA3 Gene