• Gene id: 80207

Gene Summary

• Gene Symbol: OPA3   Gene   UCSC   Ensembl
• Aliases: MGA3
• Gene name: outer mitochondrial membrane lipid metabolism regulator OPA3
• Alternate names: optic atrophy 3 protein, OPA3 outer mitochondrial membrane lipid metabolism regulator, Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'), optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia),
• Gene location: 19q13.32 (45584801: 45527426)     Exons: 4     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 606580

Protein Summary

• Protein general information: Q9H6K4  
  • Name: Optic atrophy 3 protein
  • Length: 179  
  • Mass: 19996
  • Tissue specificity: Ubiquitous. Most prominent expression in skeletal muscle and kidney. {ECO
• Sequence:

  MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRIMGFRGTVIKPLNEEA
  AAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQVQAAPPQGALE
  ELRTELQEVRAQLCNPGRSASHAVPASKK

• Structural information:
  • Interpro: IPR010754  
• Other Databases: GeneCards:  OPA3  Malacards:  OPA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019216	regulation of lipid metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0007601	visual perception	IMP	biological process

Diseases

Associated diseases	References
3-Methylglutaconic aciduria	KEGG:H00754
Optic atrophy	KEGG:H01020
3-Methylglutaconic aciduria	KEGG:H00754
Optic atrophy	KEGG:H01020
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq