ACO2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ACO2
Gene name aconitase 2, mitochondrial
Chromosome 22
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_001098.2, XM_005261621.1, XM_005261622.1
Associated with diseases ICRD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 8
Unique public DNA variants reported 8
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

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
HGNC 118
Entrez Gene 50
PubMed articles ACO2
OMIM - Gene 100850
OMIM - Diseases ICRD (Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial?)
HGMD ACO2
GeneCards ACO2
GeneTests ACO2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000019 22 transcript variant X2 XM_005261622.1 XP_005261679.1 8
00000020 22 transcript variant X1 XM_005261621.1 XP_005261678.1 8
00000021 22 aconitase 2, mitochondrial NM_001098.2 NP_001089.1 8


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium