Homo sapiens Gene: OPA3
Summary
InnateDB Gene IDBG-57748.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol OPA3
Gene Name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms MGA3;
Species Homo sapiens
Ensembl Gene ENSG00000125741
Encoded Proteins
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Protein Structure
Entrez Gene
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:46030685-46105470
Strand Reverse strand
Band q13.32
Transcripts
ENST00000323060 ENSP00000319817
ENST00000263275 ENSP00000263275
ENST00000544371 ENSP00000442839
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0050896 response to stimulus
Cellular Component
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9H6K4
TrEMBL B4DK77
UniProt Splice Variant
Entrez Gene 80207
UniGene Hs.466945 Hs.608015
RefSeq NM_001017989 NM_025136
HUGO 8142
OMIM 606580
CCDS CCDS12668 CCDS33052
HPRD 05956
IMGT
EMBL AC006117 AC006261 AC011480 AK025840 AK098798 AK296429 BC005059 BC047316 BC064146
GenPept AAH05059 AAH47316 AAH64146 BAB15255 BAC05415 BAG59089
ImmGen OPA3 (murine)
RNA Seq Atlas 80207