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Gene: ACO2 (aconitase 2) Homo sapiens
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Symbol: ACO2
Name: aconitase 2
Description: Exhibits aconitate hydratase activity and iron ion binding activity. Involved in citrate metabolic process and tricarboxylic acid cycle. Localizes to mitochondrion. Implicated in infantile cerebellar-retinal degeneration and optic atrophy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aconitase 2, mitochondrial; aconitate hydratase, mitochondrial; ACONM; citrate hydro-lyase; epididymis secretory sperm binding protein Li 284; HEL-S-284; ICRD; MGC20605; MGC33908; mitochondrial aconitase; mitochondrial aconitase (nuclear aco2 gene); OCA8; OPA9
Orthologs:
Mus musculus (house mouse) : Aco2 (aconitase 2, mitochondrial)  MGI  Alliance
Rattus norvegicus (Norway rat) : Aco2 (aconitase 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aco2 (aconitase 2)
Pan paniscus (bonobo/pygmy chimpanzee) : ACO2 (aconitase 2)
Canis lupus familiaris (dog) : ACO2 (aconitase 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aco2 (aconitase 2)
Sus scrofa (pig) : ACO2 (aconitase 2)
Chlorocebus sabaeus (African green monkey) : ACO2 (aconitase 2)
Heterocephalus glaber (naked mole-rat) : Aco2 (aconitase 2)
more info ...
Related Pseudogenes: AL021877.1   AP004289.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,469,117 - 41,528,989 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,468,756 - 41,528,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,865,099 - 41,924,993 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,195,075 - 40,254,939 (+)NCBINCBI36hg18NCBI36
Build 342240,189,628 - 40,249,492NCBI
Celera2225,671,513 - 25,731,364 (+)NCBI
Cytogenetic Map22q13.2ENTREZGENE
HuRef2224,830,931 - 24,890,807 (+)NCBIHuRef
CHM1_12241,825,012 - 41,884,897 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ACO2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 733187
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.