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A database from the MITOchondrial DYNamics variation portal "".
General information
Gene symbol ACO2
Gene name aconitase 2, mitochondrial
Chromosome 22
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_032143.1
Transcript reference NM_001098.2
Exon/intron information NM_001098.2 exon/intron table
Associated with diseases ICRD, ID, neuropathy, optic, OPA, OPA9
Citation reference(s) Journal: Guehlouz 2021
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 362
Unique public DNA variants reported 157
Individuals with public variants 160
Hidden variants 2
Download all this gene's data Download all data
Notes Pathogenic variants of the aconitase 2 gene (ACO2; MIM# 100850) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission.
Classification of variants: please note that where there are several records of the same variant, the classification of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the classification of the variant, please view the SUMMARY record.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 09, 2012
Date last updated November 27, 2023
Version ACO2:231127

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_001098.2.
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 118
Entrez Gene 50
PubMed articles ACO2
OMIM - Gene 100850
OMIM - Diseases ICRD (degeneration, cerebellar-retinal, infantile (ICRD))
OPA9 (atrophy, optic, type 9 (OPA-9))
GeneCards ACO2
GeneTests ACO2
Orphanet ACO2

Active transcripts




NCBI ID     

NCBI Protein ID     

00001969 22 aconitase 2, mitochondrial NM_001098.2 NP_001089.1 362

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 © 2012-2023. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.