The ACO2 gene homepage

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
Associated with diseases ID, OPA-8, cerebellar-retinal degeneration, infantile
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 137
Unique public DNA variants reported 16
Individuals with public variants 35
Hidden variants 4
Date created November 30, -0001
Date last updated September 28, 2016
Version ACO2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:118
Entrez Gene 50
PubMed articles ACO2
OMIM - Gene 100850
OMIM - Diseases OPA-8 (atrophy, optic?, type 8 (OPA-8))
cerebellar-retinal degeneration, infantile


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020645 22 aconitase 2, mitochondrial NM_001098.2 NP_001089.1 137