The OPA3 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol OPA3
Gene name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Chromosome 19
Chromosomal band q13.2-q13.3
Imprinted Unknown
Genomic reference NG_013332.1
Transcript reference NM_001017989.2, NM_025136.3
Exon/intron information NM_001017989.2 exon/intron table
Associated with diseases MGCA3, OPA, OPA3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Andreas Laner and Theresa Neuhann
Total number of public variants reported 41
Unique public DNA variants reported 30
Individuals with public variants 248
Hidden variants 4
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 07, 2011
Date last updated July 07, 2023
Version OPA3:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001017989.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 8142
Entrez Gene 80207
PubMed articles OPA3
OMIM - Gene 606580
OMIM - Diseases MGCA3 (3-methylglutaconic aciduria, type III (MGCA-3))
OPA3 (atrophy, optic, type 3, autosomal dominant (OPA-3))
GeneCards OPA3
GeneTests OPA3
Orphanet OPA3

Active transcripts




NCBI ID     

NCBI Protein ID     

00015050 19 transcript variant 1 NM_001017989.2 NP_001017989.2 35
00024169 19 transcript variant 2 NM_025136.3 NP_079412.1 32

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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