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
IDBP-57750 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
IDBP-57752 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
IDBP-587017 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
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
Accession GO Term
Molecular Function
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
ENSMUSG00000052214 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000019605 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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