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	15
Unique public DNA variants reported	15
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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000019	22	transcript variant X2	XM_005261622.1	XP_005261679.1	15
00000020	22	transcript variant X1	XM_005261621.1	XP_005261678.1	15
00000021	22	aconitase 2, mitochondrial	NM_001098.2	NP_001089.1	15

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium